Variant report

Variant	nsv429726
Chromosome Location	chr7:38311098-38384841
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1798)
CpG islands
(count:2261)
Chromatin interactive
region (count:56)
LncRNA
region (count:28)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1798 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:38375261-38375775	K562	blood:	n/a	n/a
2	ARID3A	chr7:38380924-38381236	K562	blood:	n/a	n/a
3	ARID3A	chr7:38333909-38333936	HepG2	liver:	n/a	n/a
4	ATF1	chr7:38375268-38375593	K562	blood:	n/a	n/a
5	ATF1	chr7:38319668-38320070	K562	blood:	n/a	n/a
6	ATF1	chr7:38379898-38380061	K562	blood:	n/a	n/a
7	ATF1	chr7:38332074-38332345	K562	blood:	n/a	n/a
8	ATF1	chr7:38380742-38381291	K562	blood:	n/a	n/a
9	ATF1	chr7:38375958-38376139	K562	blood:	n/a	n/a
10	ATF1	chr7:38358478-38358765	K562	blood:	n/a	n/a
11	ATF2	chr7:38375154-38375534	GM12878	blood:	n/a	n/a
12	ATF2	chr7:38375126-38375565	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr7:38358345-38358831	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF3	chr7:38375250-38375572	K562	blood:	n/a	n/a
15	ATF3	chr7:38375159-38375625	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr7:38375296-38375468	K562	blood:	n/a	n/a
17	BACH1	chr7:38371330-38371815	H1-hESC	embryonic stem cell:	n/a	chr7:38371628-38371642
18	BATF	chr7:38335625-38335952	GM12878	blood:	n/a	n/a
19	BATF	chr7:38375071-38375552	GM12878	blood:	n/a	n/a
20	BATF	chr7:38384403-38384723	GM12878	blood:	n/a	n/a
21	BATF	chr7:38335608-38335962	GM12878	blood:	n/a	n/a
22	BATF	chr7:38384447-38384746	GM12878	blood:	n/a	n/a
23	BCL11A	chr7:38335675-38335915	GM12878	blood:	n/a	n/a
24	BCL11A	chr7:38384321-38384734	GM12878	blood:	n/a	chr7:38384540-38384549
25	BCL11A	chr7:38335645-38335867	GM12878	blood:	n/a	n/a
26	BCL3	chr7:38375082-38375686	A549	lung:	n/a	chr7:38375198-38375207
27	BCLAF1	chr7:38375138-38375654	GM12878	blood:	n/a	chr7:38375198-38375207
28	BCLAF1	chr7:38375115-38375667	GM12878	blood:	n/a	chr7:38375198-38375207
29	BHLHE40	chr7:38375174-38375547	GM12878	blood:	n/a	n/a
30	BHLHE40	chr7:38330740-38331111	K562	blood:	n/a	n/a
31	BHLHE40	chr7:38380767-38381281	K562	blood:	n/a	n/a
32	BHLHE40	chr7:38370489-38370864	K562	blood:	n/a	n/a
33	BHLHE40	chr7:38313008-38313126	K562	blood:	n/a	n/a
34	BHLHE40	chr7:38379902-38380060	K562	blood:	n/a	n/a
35	BHLHE40	chr7:38335593-38335955	GM12878	blood:	n/a	n/a
36	BHLHE40	chr7:38339818-38340010	K562	blood:	n/a	n/a
37	BHLHE40	chr7:38358558-38358736	K562	blood:	n/a	n/a
38	BHLHE40	chr7:38374979-38376051	K562	blood:	n/a	n/a
39	BHLHE40	chr7:38351349-38351381	GM12878	blood:	n/a	n/a
40	BHLHE40	chr7:38330775-38331007	HepG2	liver:	n/a	n/a
41	BHLHE40	chr7:38351090-38351531	K562	blood:	n/a	n/a
42	BRCA1	chr7:38375364-38375495	HepG2	liver:	n/a	n/a
43	CBX3	chr7:38380733-38381387	K562	blood:	n/a	n/a
44	CBX3	chr7:38380820-38381270	K562	blood:	n/a	n/a
45	CBX3	chr7:38375149-38375641	K562	blood:	n/a	n/a
46	CBX3	chr7:38375046-38375715	K562	blood:	n/a	n/a
47	CBX3	chr7:38350978-38351579	K562	blood:	n/a	n/a
48	CBX3	chr7:38370432-38370850	K562	blood:	n/a	n/a
49	CCNT2	chr7:38380858-38381223	K562	blood:	n/a	n/a
50	CCNT2	chr7:38375300-38375668	K562	blood:	n/a	n/a

(count:2261 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:38340103-38340153	HUVEC	blood vessel:	n/a
2	chr7:38375485-38375535	HNPCEpiC	eye:	n/a
3	chr7:38361199-38361249	HMEC	breast:	n/a
4	chr7:38380582-38380632	AG09309	skin:	n/a
5	chr7:38340103-38340153	HUVEC	blood vessel:	n/a
6	chr7:38375485-38375535	HNPCEpiC	eye:	n/a
7	chr7:38361199-38361249	HMEC	breast:	n/a
8	chr7:38380582-38380632	AG09309	skin:	n/a
9	chr7:38331753-38331803	NHDF-neo	bronchial:	n/a
10	chr7:38355100-38355150	ProgFib	skin:	n/a
11	chr7:38358429-38358479	HEEpiC	esophagus:	n/a
12	chr7:38344983-38345033	GM06990	blood:	n/a
13	chr7:38350938-38350988	U87	brain:	n/a
14	chr7:38351468-38351518	GM06990	blood:	n/a
15	chr7:38312366-38312416	NHDF-neo	bronchial:	n/a
16	chr7:38351468-38351518	HEK293	kidney:	embryo
17	chr7:38358683-38358733	GM12878	blood:	n/a
18	chr7:38358429-38358479	HMEC	breast:	n/a
19	chr7:38357684-38357734	U87	brain:	n/a
20	chr7:38351468-38351518	AG09319	gingival:	n/a
21	chr7:38357684-38357734	HNPCEpiC	eye:	n/a
22	chr7:38370664-38370714	HL-60	blood:	n/a
23	chr7:38370988-38371038	Hela-S3	cervix:	n/a
24	chr7:38351468-38351518	Hela-S3	cervix:	n/a
25	chr7:38351468-38351518	SK-N-MC	brain:	n/a
26	chr7:38355100-38355150	SK-N-SH_RA	brain:	n/a
27	chr7:38344934-38344984	ECC-1	luminal epithelium:	n/a
28	chr7:38340103-38340153	RPTEC	kidney:	n/a
29	chr7:38331753-38331803	HUVEC	blood vessel:	n/a
30	chr7:38344455-38344505	HCM	heart:	n/a
31	chr7:38351154-38351204	ProgFib	skin:	n/a
32	chr7:38331871-38331921	SAEC	small airway:	n/a
33	chr7:38350464-38350514	Caco-2	colon:	n/a
34	chr7:38358683-38358733	T-47D	breast:	n/a
35	chr7:38316654-38316704	U87	brain:	n/a
36	chr7:38375485-38375535	ovcar-3	ovarian:	n/a
37	chr7:38332633-38332683	CMK	blood:	n/a
38	chr7:38351468-38351518	MCF-7	breast:	n/a
39	chr7:38358429-38358479	AG09319	gingival:	n/a
40	chr7:38370874-38370924	K562	blood:	n/a
41	chr7:38380487-38380537	Jurkat	blood:	n/a
42	chr7:38370676-38370726	HCT-116	colon:	n/a
43	chr7:38375376-38375426	GM12892	blood:	n/a
44	chr7:38356729-38356779	RPTEC	kidney:	n/a
45	chr7:38370676-38370726	K562	blood:	n/a
46	chr7:38344983-38345033	AG04450	lung:	fetal
47	chr7:38380487-38380537	NH-A	brain:	n/a
48	chr7:38351094-38351144	ovcar-3	ovarian:	n/a
49	chr7:38361199-38361249	SAEC	small airway:	n/a
50	chr7:38351468-38351518	Caco-2	colon:	n/a

(count:56 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:38327903..38329443-chr7:38331082..38333824,2	MCF-7	breast:
2	chr7:38378347..38380949-chr7:38392502..38394879,2	K562	blood:
3	chr7:38383736..38385810-chr7:38388077..38391054,2	MCF-7	breast:
4	chr7:38333908..38338085-chr7:38338653..38341388,3	K562	blood:
5	chr7:38375472..38376033-chr7:38384935..38385704,2	MCF-7	breast:
6	chr7:38338259..38341713-chr7:38349234..38353582,4	K562	blood:
7	chr7:38350491..38352001-chr7:38373860..38376555,2	K562	blood:
8	chr7:38333908..38338085-chr7:38338653..38341388,3	K562	blood:
9	chr7:38337293..38339358-chr7:38341457..38343029,2	K562	blood:
10	chr7:38350441..38353889-chr7:38368470..38373744,5	K562	blood:
11	chr7:38375070..38375771-chr7:38393808..38394547,2	MCF-7	breast:
12	chr7:38369534..38372460-chr7:38378778..38381886,3	K562	blood:
13	chr7:38338259..38341713-chr7:38349234..38353582,4	K562	blood:
14	chr7:38365694..38367640-chr7:38368298..38369847,2	K562	blood:
15	chr7:38309718..38312267-chr7:38320422..38323270,2	MCF-7	breast:
16	chr5:139487048..139487856-chr7:38339265..38339924,2	NB4	blood:
17	chr19:47892610..47893302-chr7:38314653..38315604,2	NB4	blood:
18	chr7:38369534..38372460-chr7:38378778..38381886,3	K562	blood:
19	chr7:38357958..38360447-chr7:38360808..38363317,4	K562	blood:
20	chr7:38369664..38372472-chr7:38373590..38376789,3	K562	blood:
21	chr7:38350855..38351410-chr9:4679053..4679680,2	NB4	blood:
22	chr7:38320521..38322943-chr7:38347615..38349997,2	K562	blood:
23	chr7:38322069..38325279-chr7:38325414..38329966,4	K562	blood:
24	chr7:38350491..38353138-chr7:38373860..38375500,2	K562	blood:
25	chr7:38342202..38344316-chr7:38351382..38353535,2	K562	blood:
26	chr7:38369664..38372472-chr7:38373590..38376789,3	K562	blood:
27	chr7:38320521..38322943-chr7:38347615..38349997,2	K562	blood:
28	chr7:38268526..38271338-chr7:38351636..38353674,2	K562	blood:
29	chr5:150068580..150069370-chr7:38338298..38339028,2	NB4	blood:
30	chr7:38325300..38328102-chr7:38356981..38359031,2	K562	blood:
31	chr7:38372590..38377698-chr7:38377994..38383669,12	K562	blood:
32	chr7:38329299..38330977-chr7:38349932..38352366,2	K562	blood:
33	chr7:38255022..38255645-chr7:38375302..38376120,3	MCF-7	breast:
34	chr7:38379860..38381671-chr7:38382000..38383618,2	K562	blood:
35	chr7:38309718..38312267-chr7:38320422..38323270,2	MCF-7	breast:
36	chr7:38338259..38344316-chr7:38349234..38354817,8	K562	blood:
37	chr7:38350491..38353138-chr7:38373860..38375500,2	K562	blood:
38	chr7:38145396..38146142-chr7:38358527..38359113,2	MCF-7	breast:
39	chr7:38357958..38360447-chr7:38360808..38363317,4	K562	blood:
40	chr7:38268103..38269784-chr7:38382757..38385051,2	K562	blood:
41	chr7:38322069..38325279-chr7:38325414..38329966,4	K562	blood:
42	chr7:38312675..38315674-chr7:38326850..38329772,2	K562	blood:
43	chr7:38272138..38275044-chr7:38351799..38354206,2	K562	blood:
44	chr7:38350441..38353889-chr7:38368470..38373744,5	K562	blood:
45	chr7:38316692..38319374-chr7:38324142..38325804,2	MCF-7	breast:
46	chr7:38269978..38272526-chr7:38377435..38379545,2	K562	blood:
47	chr7:38380741..38382401-chr7:38383649..38386131,2	K562	blood:
48	chr7:38350491..38352001-chr7:38373860..38376555,2	K562	blood:
49	chr7:38342202..38344316-chr7:38351382..38353535,2	K562	blood:
50	chr11:93474211..93474958-chr7:38350865..38351599,2	NB4	blood:

(count:28 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-STARD3NL-1	chr7:38347741-38347925	ucscGeneNc_uc003tgp_1
2	lnc-AMPH-2	chr7:38342349-38343224	NONHSAT120173
3	lnc-AMPH-10	chr7:38356621-38356709	NONHSAT120162
4	lnc-AMPH-5	chr7:38375073-38375115	NONHSAT120177
5	lnc-AMPH-10	chr7:38356623-38356709	NONHSAT120170
6	lnc-AMPH-10	chr7:38356621-38356709	NONHSAT120161
7	lnc-STARD3NL-1	chr7:38381747-38382154	NONHSAT120178
8	lnc-AMPH-10	chr7:38356622-38356709	NONHSAT120167
9	lnc-AMPH-7	chr7:38362047-38362331	NONHSAT120176
10	lnc-AMPH-2	chr7:38342383-38343224	ENSG00000244971
11	lnc-AMPH-2	chr7:38344265-38345247	ENSG00000244971
12	lnc-AMPH-2	chr7:38343487-38343773	ENSG00000244971
13	lnc-AMPH-10	chr7:38313188-38313238	NONHSAT120169
14	lnc-AMPH-2	chr7:38344265-38344378	NONHSAT120173
15	lnc-AMPH-6	chr7:38365671-38367234	ENSG00000272908.1
16	lnc-STARD3NL-1	chr7:38381178-38381400	NONHSAT120179
17	lnc-AMPH-6	chr7:38368841-38369244	ENSG00000272908.1
18	lnc-STARD3NL-1	chr7:38381216-38381400	ENSG00000250924
19	lnc-AMPH-2	chr7:38343487-38343773	NONHSAT120173
20	lnc-STARD3NL-1	chr7:38356472-38356576	ucscGeneNc_uc003tgp_1
21	lnc-AMPH-10	chr7:38356616-38356709	NONHSAT120169
22	lnc-AMPH-10	chr7:38356605-38356709	NONHSAT120166
23	lnc-AMPH-5	chr7:38374642-38374951	NONHSAT120177
24	lnc-AMPH-8	chr7:38335364-38335834	NONHSAT120172
25	lnc-STARD3NL-1	chr7:38381098-38381400	NONHSAT120178
26	lnc-AMPH-10	chr7:38313188-38313242	NONHSAT120170
27	lnc-STARD3NL-1	chr7:38381683-38384763	ucscGeneNc_uc003tgp_1
28	lnc-STARD3NL-1	chr7:38352147-38352253	ucscGeneNc_uc003tgp_1

No data

Variant related genes	Relation type
ENSG00000272908	TF binding region
TRGV7	TF binding region
TRGJP	TF binding region
TRGV6	TF binding region
TRGV10	TF binding region
TRGV11	TF binding region
TRGV8	TF binding region
TRGVB	TF binding region
TRGJP1	TF binding region
TRGJ1	TF binding region
TRGVA	TF binding region
ENSG00000231916	TF binding region
TRGV9	TF binding region
ENSG00000272908	CpG island
TRGV7	CpG island
TRGJP	CpG island
TRGV6	CpG island
TRGV10	CpG island
TRGV11	CpG island
TRGV8	CpG island
TRGVB	CpG island
TRGJP1	CpG island
TRGJ1	CpG island
TRGVA	CpG island
ENSG00000231916	CpG island
TRGV9	CpG island
ENSG00000211696	chromatin interactions
ENSG00000228668	chromatin interactions
ENSG00000106993	chromatin interactions
ENSG00000182919	chromatin interactions
ENSG00000211691	chromatin interactions
ENSG00000249978	chromatin interactions
ENSG00000211697	chromatin interactions
ENSG00000211693	chromatin interactions
ENSG00000211698	chromatin interactions
ENSG00000231916	chromatin interactions
ENSG00000231202	chromatin interactions
ENSG00000226212	chromatin interactions
ENSG00000211695	chromatin interactions
ENSG00000273061	chromatin interactions
ENSG00000211694	chromatin interactions
ENSG00000166012	chromatin interactions
ENSG00000185129	chromatin interactions
ENSG00000204472	chromatin interactions
ENSG00000225992	chromatin interactions
ENSG00000245146	chromatin interactions
ENSG00000272908	chromatin interactions
CA13	miRNA target sites
PTEN	miRNA target sites

Extended variants
information (count: 3231 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:3231 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10262830	chr7:38311098-38311099	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs528249460	chr7:38311101-38311102	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs551650797	chr7:38311115-38311116	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs73343649	chr7:38311121-38311122	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs146948611	chr7:38311150-38311151	Weak transcription Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
6	rs533840555	chr7:38311151-38311152	Weak transcription Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
7	rs533299962	chr7:38311172-38311173	Weak transcription Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs182746461	chr7:38311177-38311178	Weak transcription Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs28446898	chr7:38311200-38311201	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs535850068	chr7:38311203-38311204	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
11	rs73692273	chr7:38311229-38311230	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs116204676	chr7:38311244-38311245	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs73692274	chr7:38311247-38311248	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs370836213	chr7:38311285-38311286	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs374080146	chr7:38311288-38311289	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs530493084	chr7:38311294-38311295	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs74862851	chr7:38311342-38311343	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs557962199	chr7:38311371-38311372	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs577293644	chr7:38311424-38311425	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
20	rs543125685	chr7:38311439-38311440	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
21	rs377138121	chr7:38311441-38311442	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
22	rs117167440	chr7:38311448-38311449	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
23	rs573519087	chr7:38311472-38311473	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
24	rs187723973	chr7:38311510-38311511	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
25	rs577297432	chr7:38311543-38311544	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
26	rs116703123	chr7:38311562-38311563	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
27	rs370935744	chr7:38311578-38311579	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
28	rs77335686	chr7:38311597-38311598	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
29	rs193222172	chr7:38311627-38311628	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
30	rs572351369	chr7:38311633-38311634	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
31	rs148354881	chr7:38311678-38311679	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
32	rs549966634	chr7:38311768-38311769	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs12155081	chr7:38311790-38311791	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs561635645	chr7:38311806-38311807	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs529267338	chr7:38311807-38311808	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs117277199	chr7:38311809-38311810	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs141188374	chr7:38311818-38311819	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs114977817	chr7:38311831-38311832	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs372574083	chr7:38311840-38311841	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs150738652	chr7:38311856-38311857	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs12155083	chr7:38311871-38311872	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs537663454	chr7:38311945-38311946	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs12154505	chr7:38311952-38311953	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs117516982	chr7:38312015-38312016	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
45	rs535862401	chr7:38312053-38312054	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
46	rs570112676	chr7:38312065-38312066	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
47	rs553040223	chr7:38312070-38312071	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
48	rs184786814	chr7:38312071-38312072	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
49	rs371755636	chr7:38312074-38312075	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
50	rs545296166	chr7:38312097-38312098	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	18632612	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Acute myeloid leukemia	17237825	CNVD
Breast cancer	17899364	CNVD
Breast cancer	20409316	CNVD
Acute monocytic leukemia	16498392	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Sezary syndrome	18413736	CNVD
Gastric cancer	24379144	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Cancer	20164919	CNVD
Neuroblastoma	19536264	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1388 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:38288200-38311200	Weak transcription	Primary T cells from cord blood	blood
2	chr7:38297200-38312600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr7:38297800-38312200	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr7:38298200-38313000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr7:38298600-38311200	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr7:38298600-38314200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr7:38305600-38312000	Weak transcription	Fetal Thymus	thymus
8	chr7:38310800-38313600	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
9	chr7:38311000-38315800	Active TSS	Primary T cells fromperipheralblood	blood
10	chr7:38311200-38312600	Active TSS	Primary T cells from cord blood	blood
11	chr7:38311200-38317000	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr7:38312000-38316400	Active TSS	Fetal Thymus	thymus
13	chr7:38312200-38312800	Active TSS	Primary monocytes fromperipheralblood	blood
14	chr7:38312200-38312800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr7:38312600-38312800	Enhancers	Primary B cells from cord blood	blood
16	chr7:38312600-38312800	Flanking Active TSS	Primary T cells from cord blood	blood
17	chr7:38312600-38312800	Enhancers	Primary hematopoietic stem cells	blood
18	chr7:38312600-38313800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
19	chr7:38312800-38313200	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr7:38312800-38313800	Weak transcription	Primary B cells from cord blood	blood
21	chr7:38312800-38314400	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr7:38312800-38315800	Active TSS	Primary T cells from cord blood	blood
23	chr7:38312800-38316000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr7:38313000-38313200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr7:38313200-38313400	Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr7:38313200-38313800	Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr7:38313200-38314200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr7:38313400-38313600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr7:38313600-38315800	Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr7:38313600-38316600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
31	chr7:38313800-38314000	Enhancers	Primary B cells from cord blood	blood
32	chr7:38313800-38314600	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr7:38313800-38314600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr7:38313800-38315800	Active TSS	Thymus	Thymus
35	chr7:38313800-38316000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr7:38314000-38316200	Weak transcription	Primary B cells from cord blood	blood
37	chr7:38314200-38314400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr7:38314200-38316000	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr7:38314400-38315000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr7:38314400-38315800	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr7:38314600-38315400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr7:38314600-38315800	Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr7:38314600-38315800	Active TSS	Primary T helper cells fromperipheralblood	blood
44	chr7:38315000-38315200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr7:38315200-38316000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr7:38315400-38316200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr7:38315800-38316600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr7:38315800-38316800	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr7:38315800-38316800	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr7:38315800-38316800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood

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