Variant report

Variant	nsv888800
Chromosome Location	chr7:100411278-100436446
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1567)
CpG islands
(count:1833)
Chromatin interactive
region (count:89)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1567 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:100423542-100423806	K562	blood:	n/a	n/a
2	ARID3A	chr7:100420508-100420589	HepG2	liver:	n/a	n/a
3	ARID3A	chr7:100426919-100427133	K562	blood:	n/a	n/a
4	ARID3A	chr7:100429376-100429664	HepG2	liver:	n/a	n/a
5	ARID3A	chr7:100425307-100425310	K562	blood:	n/a	n/a
6	ATF2	chr7:100433713-100434811	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr7:100434969-100435334	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr7:100434856-100435212	GM12878	blood:	n/a	n/a
9	ATF2	chr7:100433826-100435318	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr7:100425290-100425740	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF3	chr7:100435009-100435212	GM12878	blood:	n/a	n/a
12	ATF3	chr7:100434767-100435337	A549	lung:	n/a	n/a
13	ATF3	chr7:100434930-100435372	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF3	chr7:100434989-100435278	K562	blood:	n/a	n/a
15	ATF3	chr7:100434900-100435251	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF3	chr7:100434783-100435439	A549	lung:	n/a	n/a
17	ATF3	chr7:100434889-100435316	GM12878	blood:	n/a	n/a
18	BACH1	chr7:100425249-100425737	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr7:100433558-100433758	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr7:100435026-100435322	H1-hESC	embryonic stem cell:	n/a	n/a
21	BACH1	chr7:100434218-100434432	H1-hESC	embryonic stem cell:	n/a	n/a
22	BCL3	chr7:100434700-100435477	A549	lung:	n/a	n/a
23	BCL3	chr7:100425330-100425881	A549	lung:	n/a	chr7:100425340-100425349
24	BCL3	chr7:100434598-100435467	A549	lung:	n/a	n/a
25	BCL3	chr7:100425328-100425866	A549	lung:	n/a	chr7:100425340-100425349
26	BCLAF1	chr7:100434776-100435280	GM12878	blood:	n/a	n/a
27	BCLAF1	chr7:100434884-100435296	GM12878	blood:	n/a	n/a
28	BHLHE40	chr7:100434960-100435329	GM12878	blood:	n/a	n/a
29	BHLHE40	chr7:100425331-100425662	K562	blood:	n/a	n/a
30	BHLHE40	chr7:100424807-100424989	K562	blood:	n/a	n/a
31	BHLHE40	chr7:100424240-100424246	K562	blood:	n/a	n/a
32	BHLHE40	chr7:100434902-100435290	A549	lung:	n/a	n/a
33	BHLHE40	chr7:100423673-100423850	K562	blood:	n/a	n/a
34	BHLHE40	chr7:100426926-100427213	K562	blood:	n/a	n/a
35	BHLHE40	chr7:100434929-100435376	K562	blood:	n/a	n/a
36	BRCA1	chr7:100423717-100423917	H1-hESC	embryonic stem cell:	n/a	n/a
37	BRCA1	chr7:100423794-100423905	Hela-S3	cervix:	n/a	n/a
38	BRCA1	chr7:100434173-100434351	H1-hESC	embryonic stem cell:	n/a	n/a
39	BRCA1	chr7:100434993-100435314	H1-hESC	embryonic stem cell:	n/a	n/a
40	BRCA1	chr7:100425355-100425538	H1-hESC	embryonic stem cell:	n/a	n/a
41	CBX3	chr7:100434588-100435504	K562	blood:	n/a	n/a
42	CBX3	chr7:100431537-100432351	K562	blood:	n/a	n/a
43	CBX3	chr7:100434667-100435507	K562	blood:	n/a	n/a
44	CBX3	chr7:100426677-100427396	K562	blood:	n/a	n/a
45	CBX3	chr7:100425403-100425915	K562	blood:	n/a	n/a
46	CBX3	chr7:100422966-100423555	K562	blood:	n/a	n/a
47	CBX3	chr7:100434529-100435497	HCT-116	colon:	n/a	n/a
48	CBX3	chr7:100425354-100426608	K562	blood:	n/a	n/a
49	CCNT2	chr7:100434931-100435208	K562	blood:	n/a	n/a
50	CCNT2	chr7:100424598-100425656	K562	blood:	n/a	chr7:100425417-100425426 chr7:100425334-100425343

(count:1833 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:100423987-100424037	AG10803	skin:	n/a
2	chr7:100417404-100417454	ovcar-3	ovarian:	n/a
3	chr7:100428744-100428794	GM12891	blood:	n/a
4	chr7:100423987-100424037	AG10803	skin:	n/a
5	chr7:100417404-100417454	ovcar-3	ovarian:	n/a
6	chr7:100428744-100428794	GM12891	blood:	n/a
7	chr7:100425236-100425286	ECC-1	luminal epithelium:	n/a
8	chr7:100421317-100421367	LNCaP	prostate:	n/a
9	chr7:100434983-100435033	NH-A	brain:	n/a
10	chr7:100417404-100417454	MCF-7	breast:	n/a
11	chr7:100424532-100424582	SK-N-SH	brain:	n/a
12	chr7:100421510-100421560	Hepatocyte	liver:	n/a
13	chr7:100421502-100421552	AG04450	lung:	fetal
14	chr7:100421510-100421560	AG09309	skin:	n/a
15	chr7:100424355-100424405	BJ	skin:	n/a
16	chr7:100421502-100421552	NT2-D1	testis:	n/a
17	chr7:100425154-100425204	ProgFib	skin:	n/a
18	chr7:100423220-100423270	CMK	blood:	n/a
19	chr7:100421510-100421560	NT2-D1	testis:	n/a
20	chr7:100420212-100420262	HepG2	liver:	n/a
21	chr7:100421510-100421560	T-47D	breast:	n/a
22	chr7:100425567-100425617	HRPEpiC	eye:	n/a
23	chr7:100421296-100421346	GM12892	blood:	n/a
24	chr7:100421502-100421552	NHBE	bronchial:	n/a
25	chr7:100435192-100435242	NH-A	brain:	n/a
26	chr7:100425517-100425567	PrEC	prostate:	n/a
27	chr7:100418770-100418820	ProgFib	skin:	n/a
28	chr7:100425517-100425567	MCF10A-Er-Src	breast:	n/a
29	chr7:100421502-100421552	HCM	heart:	n/a
30	chr7:100425238-100425288	ovcar-3	ovarian:	n/a
31	chr7:100424945-100424995	PANC-1	pancreas:	n/a
32	chr7:100418770-100418820	AG09309	skin:	n/a
33	chr7:100420040-100420090	HMEC	breast:	n/a
34	chr7:100424945-100424995	SK-N-SH_RA	brain:	n/a
35	chr7:100434510-100434560	BJ	skin:	n/a
36	chr7:100421296-100421346	HIPEpiC	eye:	n/a
37	chr7:100425827-100425877	HRCEpiC	kidney:	n/a
38	chr7:100420212-100420262	HCPEpiC	choroid plexus:	n/a
39	chr7:100425238-100425288	HCM	heart:	n/a
40	chr7:100420040-100420090	RPTEC	kidney:	n/a
41	chr7:100420040-100420090	MCF-7	breast:	n/a
42	chr7:100421510-100421560	SK-N-SH_RA	brain:	n/a
43	chr7:100420040-100420090	GM12891	blood:	n/a
44	chr7:100434510-100434560	HNPCEpiC	eye:	n/a
45	chr7:100424355-100424405	NH-A	brain:	n/a
46	chr7:100420109-100420159	AG04449	skin:	fetal
47	chr7:100425236-100425286	Hela-S3	cervix:	n/a
48	chr7:100414918-100414968	NH-A	brain:	n/a
49	chr7:100418770-100418820	U87	brain:	n/a
50	chr7:100425238-100425288	ProgFib	skin:	n/a

(count:89 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr6:146056240..146056988-chr7:100424823..100425448,2	HCT-116	colon:
2	chr7:100396999..100399481-chr7:100432100..100434547,2	MCF-7	breast:
3	chr7:100427050..100428595-chr7:100433038..100435319,2	MCF-7	breast:
4	chr7:100425260..100426798-chr7:100493596..100496066,2	K562	blood:
5	chr7:100425738..100428117-chr7:100484984..100487781,2	K562	blood:
6	chr7:100208147..100211165-chr7:100422696..100426389,3	MCF-7	breast:
7	chr7:100433568..100436428-chr7:100463432..100465884,2	K562	blood:
8	chr7:100075692..100077852-chr7:100432522..100434614,2	K562	blood:
9	chr7:100422126..100425537-chr7:100471170..100475559,4	MCF-7	breast:
10	chr7:100415072..100417547-chr7:100433376..100435074,2	K562	blood:
11	chr7:100428650..100430263-chr7:100434365..100436126,2	K562	blood:
12	chr7:100433551..100436484-chr7:100455995..100458424,2	MCF-7	breast:
13	chr7:100428155..100429867-chr7:100486427..100488061,2	K562	blood:
14	chr7:100433319..100435177-chr7:100470244..100472636,2	MCF-7	breast:
15	chr7:100396723..100397558-chr7:100423449..100424411,5	MCF-7	breast:
16	chr7:100421802..100424702-chr7:100482689..100484467,2	MCF-7	breast:
17	chr7:100317495..100321039-chr7:100423744..100425687,3	MCF-7	breast:
18	chr7:100395163..100402625-chr7:100430790..100439308,9	K562	blood:
19	chr7:100411612..100416367-chr7:100416758..100421985,7	MCF-7	breast:
20	chr7:100302002..100304028-chr7:100432602..100435007,2	K562	blood:
21	chr7:100302203..100304565-chr7:100433455..100435641,2	MCF-7	breast:
22	chr7:100410309..100412230-chr7:100433856..100436732,2	MCF-7	breast:
23	chr7:100397045..100397664-chr7:100423201..100424033,3	MCF-7	breast:
24	chr7:100180828..100183630-chr7:100412153..100413841,2	MCF-7	breast:
25	chr7:100427087..100431759-chr7:100432300..100436126,8	K562	blood:
26	chr7:100425740..100428117-chr7:100484984..100487072,2	K562	blood:
27	chr7:100026028..100027729-chr7:100422435..100425262,2	MCF-7	breast:
28	chr7:100434894..100436577-chr7:100440736..100443867,3	K562	blood:
29	chr7:100418397..100419909-chr7:100486584..100488563,2	MCF-7	breast:
30	chr7:100271082..100273257-chr7:100420058..100422444,2	MCF-7	breast:
31	chr7:100410343..100413835-chr7:100422249..100426210,7	MCF-7	breast:
32	chr7:100025953..100027700-chr7:100433744..100436385,2	K562	blood:
33	chr7:100424956..100426805-chr7:100433115..100435139,3	K562	blood:
34	chr7:100414358..100416032-chr7:100466153..100468789,2	K562	blood:
35	chr7:100434732..100436886-chr7:100448043..100451085,4	MCF-7	breast:
36	chr7:100434202..100436782-chr7:100443711..100446643,3	MCF-7	breast:
37	chr7:100415072..100417547-chr7:100433376..100435074,2	K562	blood:
38	chr7:100423433..100426983-chr7:100448013..100452140,5	K562	blood:
39	chr7:100433647..100436393-chr7:100462974..100466470,4	MCF-7	breast:
40	chr7:100183417..100185001-chr7:100424655..100427018,2	K562	blood:
41	chr7:100433653..100435265-chr7:100487454..100490757,3	MCF-7	breast:
42	chr7:100410343..100413835-chr7:100422249..100426210,7	MCF-7	breast:
43	chr7:100395758..100398887-chr7:100432685..100435250,3	K562	blood:
44	chr7:100423424..100426106-chr7:100484562..100490364,9	MCF-7	breast:
45	chr7:100422507..100425208-chr7:100700393..100702455,2	MCF-7	breast:
46	chr7:100404960..100406737-chr7:100409300..100411375,2	MCF-7	breast:
47	chr7:100414804..100417415-chr7:100464591..100466157,2	MCF-7	breast:
48	chr7:100416260..100418305-chr7:100463374..100465090,2	MCF-7	breast:
49	chr7:100182494..100184501-chr7:100433559..100435165,2	K562	blood:
50	chr7:100223251..100225945-chr7:100423491..100425881,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC12A9-1	chr7:100424442-100424669	NONHSAT122409

No data

Variant related genes	Relation type
SLC12A9	TF binding region
RN7SL750P	TF binding region
EPHB4	TF binding region
SLC12A9	CpG island
RN7SL750P	CpG island
EPHB4	CpG island
ENSG00000087077	chromatin interactions
ENSG00000236305	chromatin interactions
ENSG00000087085	chromatin interactions
ENSG00000124171	chromatin interactions
ENSG00000146834	chromatin interactions
ENSG00000106327	chromatin interactions
ENSG00000077454	chromatin interactions
ENSG00000222636	chromatin interactions
ENSG00000087087	chromatin interactions
ENSG00000263672	chromatin interactions
ENSG00000106330	chromatin interactions
ENSG00000130427	chromatin interactions
ENSG00000141543	chromatin interactions
ENSG00000112425	chromatin interactions
ENSG00000172336	chromatin interactions
ENSG00000196411	chromatin interactions
ENSG00000166925	chromatin interactions
ENSG00000270638	chromatin interactions
ENSG00000146828	chromatin interactions
ENSG00000176125	chromatin interactions
ENSG00000148175	chromatin interactions
ENSG00000172354	chromatin interactions
ENSG00000106336	chromatin interactions
ENSG00000078487	chromatin interactions

Extended variants
information (count: 1148 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:1148 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs314359	chr7:100411278-100411279	Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs116240595	chr7:100411287-100411288	Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs563114834	chr7:100411294-100411295	Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs36050247	chr7:100411302-100411303	Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs373064420	chr7:100411305-100411306	Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs60537976	chr7:100411306-100411307	Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs377351816	chr7:100411342-100411343	Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs202035530	chr7:100411344-100411345	Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs372971671	chr7:100411346-100411347	Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs74340862	chr7:100411372-100411373	Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs368565029	chr7:100411382-100411383	Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs141459441	chr7:100411398-100411399	Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs540654832	chr7:100411429-100411430	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs549090700	chr7:100411504-100411505	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs371520533	chr7:100411527-100411528	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs199707528	chr7:100411551-100411552	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs370425633	chr7:100411589-100411590	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs201252094	chr7:100411600-100411601	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs201096509	chr7:100411607-100411608	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs542077734	chr7:100411621-100411622	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs139594739	chr7:100411628-100411629	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs149690566	chr7:100411634-100411635	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs55682161	chr7:100411639-100411640	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs368384954	chr7:100411647-100411648	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs372052364	chr7:100411666-100411667	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs28444497	chr7:100411688-100411689	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs570839663	chr7:100411705-100411706	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs528624643	chr7:100411798-100411799	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs546671418	chr7:100411813-100411814	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs377113249	chr7:100411836-100411837	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs568398181	chr7:100411867-100411868	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs535862923	chr7:100411874-100411875	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs3890144	chr7:100411875-100411876	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs314360	chr7:100411918-100411919	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs552018924	chr7:100411923-100411924	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs538530073	chr7:100411924-100411925	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs12154438	chr7:100411927-100411928	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs557253899	chr7:100411953-100411954	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs551353975	chr7:100411987-100411988	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs564960758	chr7:100412014-100412015	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs558822561	chr7:100412115-100412116	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs145096319	chr7:100412144-100412145	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs576345874	chr7:100412171-100412172	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs541168232	chr7:100412185-100412186	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs552802725	chr7:100412196-100412197	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs77703501	chr7:100412214-100412215	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs541445454	chr7:100412328-100412329	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs563615779	chr7:100412342-100412343	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs191805562	chr7:100412372-100412373	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs3847061	chr7:100412374-100412375	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:96)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21509527	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Breast cancer	20409316	CNVD
aortic dissecting aneurysms	22263138	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17431168	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Cancer	20164919	CNVD

Chromatin state (count:1416 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100399600-100422200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:100399600-100422200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
3	chr7:100399800-100422400	Strong transcription	H9 Cell Line	embryonic stem cell
4	chr7:100399800-100422400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:100400000-100422200	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr7:100400400-100422200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr7:100401600-100420800	Weak transcription	Brain Angular Gyrus	brain
8	chr7:100401600-100421800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr7:100401600-100421800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:100401600-100422000	Strong transcription	H1 Cell Line	embryonic stem cell
11	chr7:100401600-100422000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr7:100401600-100422600	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr7:100401600-100423200	Weak transcription	Brain Anterior Caudate	brain
14	chr7:100401800-100411400	Weak transcription	Primary B cells from cord blood	blood
15	chr7:100401800-100412200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr7:100401800-100412200	Strong transcription	HMEC	breast
17	chr7:100401800-100413400	Weak transcription	Brain Substantia Nigra	brain
18	chr7:100401800-100415800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr7:100401800-100416600	Weak transcription	Stomach Mucosa	stomach
20	chr7:100401800-100419600	Weak transcription	Right Atrium	heart
21	chr7:100401800-100421400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr7:100401800-100421400	Strong transcription	Fetal Stomach	stomach
23	chr7:100401800-100422200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr7:100401800-100422200	Weak transcription	Fetal Heart	heart
25	chr7:100401800-100422400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:100401800-100422400	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr7:100401800-100422400	Strong transcription	Fetal Intestine Large	intestine
28	chr7:100401800-100422600	Weak transcription	Fetal Brain Male	brain
29	chr7:100401800-100422600	Strong transcription	Fetal Intestine Small	intestine
30	chr7:100401800-100423000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr7:100402000-100411600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr7:100402000-100421200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr7:100402000-100421800	Strong transcription	Fetal Muscle Trunk	muscle
34	chr7:100402000-100421800	Strong transcription	NHEK	skin
35	chr7:100402000-100422000	Strong transcription	Fetal Muscle Leg	muscle
36	chr7:100402000-100422600	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr7:100402000-100422600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr7:100402200-100413400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr7:100402200-100418400	Strong transcription	Duodenum Mucosa	Duodenum
40	chr7:100402200-100418600	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr7:100402200-100421600	Strong transcription	Adipose Nuclei	Adipose
42	chr7:100402200-100421600	Strong transcription	Stomach Smooth Muscle	stomach
43	chr7:100402200-100421800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr7:100402400-100419000	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr7:100402400-100422000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr7:100402400-100422000	Strong transcription	Fetal Lung	lung
47	chr7:100402600-100412400	Weak transcription	Primary T cells from cord blood	blood
48	chr7:100402600-100421800	Strong transcription	Lung	lung
49	chr7:100403000-100412000	Strong transcription	Colon Smooth Muscle	Colon
50	chr7:100403200-100411400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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