Variant report

Variant	nsv607932
Chromosome Location	chr7:100172495-100182691
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:360)
CpG islands
(count:366)
Chromatin interactive
region (count:48)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:360 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr7:100182645-100183016	K562	blood:	n/a	n/a
2	ATF2	chr7:100182363-100183005	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF3	chr7:100172928-100173111	K562	blood:	n/a	n/a
4	BCLAF1	chr7:100181132-100182008	GM12878	blood:	n/a	chr7:100181305-100181314
5	BHLHE40	chr7:100173004-100173076	GM12878	blood:	n/a	n/a
6	BHLHE40	chr7:100181077-100181798	GM12878	blood:	n/a	n/a
7	BHLHE40	chr7:100182658-100182760	K562	blood:	n/a	n/a
8	BHLHE40	chr7:100172800-100173238	HepG2	liver:	n/a	n/a
9	BHLHE40	chr7:100172817-100173201	K562	blood:	n/a	n/a
10	BRCA1	chr7:100175250-100175320	HepG2	liver:	n/a	n/a
11	BRCA1	chr7:100182631-100182971	Hela-S3	cervix:	n/a	n/a
12	BRCA1	chr7:100181753-100181884	GM12878	blood:	n/a	n/a
13	CCNT2	chr7:100172937-100172964	K562	blood:	n/a	n/a
14	CEBPB	chr7:100177074-100177274	K562	blood:	n/a	n/a
15	CHD1	chr7:100180997-100181929	GM12878	blood:	n/a	n/a
16	CHD2	chr7:100168579-100174037	HepG2	liver:	n/a	n/a
17	CHD2	chr7:100182560-100182567	HepG2	liver:	n/a	n/a
18	CHD2	chr7:100182489-100182733	Hela-S3	cervix:	n/a	n/a
19	CHD2	chr7:100182585-100182900	H1-hESC	embryonic stem cell:	n/a	n/a
20	CHD2	chr7:100174296-100174620	HepG2	liver:	n/a	n/a
21	CHD2	chr7:100182267-100182360	H1-hESC	embryonic stem cell:	n/a	n/a
22	CHD2	chr7:100181160-100181907	GM12878	blood:	n/a	n/a
23	CHD2	chr7:100176622-100176822	HepG2	liver:	n/a	n/a
24	CHD2	chr7:100175801-100175871	HepG2	liver:	n/a	n/a
25	CHD2	chr7:100174826-100175508	HepG2	liver:	n/a	n/a
26	CREB1	chr7:100182525-100183009	A549	lung:	n/a	n/a
27	CREB1	chr7:100182352-100183443	H1-hESC	embryonic stem cell:	n/a	n/a
28	CREB1	chr7:100182306-100184537	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr7:100182560-100182710	HPAF	blood vessel:	n/a	n/a
30	CTCF	chr7:100178392-100178492	GM19239	blood:	n/a	n/a
31	CTCF	chr7:100182480-100182630	BJ	skin:	n/a	n/a
32	CTCF	chr7:100182620-100182770	AG04449	skin:	n/a	n/a
33	CTCF	chr7:100181700-100181850	GM12869	blood:	n/a	n/a
34	CUX1	chr7:100177898-100177910	K562	blood:	n/a	n/a
35	E2F6	chr7:100172927-100173058	K562	blood:	n/a	n/a
36	EBF1	chr7:100181007-100181950	GM12878	blood:	n/a	chr7:100181187-100181198 chr7:100181655-100181664
37	EBF1	chr7:100181002-100181839	GM12878	blood:	n/a	chr7:100181187-100181198 chr7:100181655-100181664
38	EBF1	chr7:100181049-100181355	GM12878	blood:	n/a	chr7:100181187-100181198
39	EBF1	chr7:100181392-100181951	GM12878	blood:	n/a	chr7:100181655-100181664
40	EGR1	chr7:100180801-100181041	K562	blood:	n/a	n/a
41	EGR1	chr7:100172936-100173153	K562	blood:	n/a	n/a
42	ELF1	chr7:100181245-100181969	GM12878	blood:	n/a	chr7:100181849-100181860
43	ELF1	chr7:100182649-100183059	K562	blood:	n/a	n/a
44	ELK1	chr7:100181203-100181639	GM12878	blood:	n/a	n/a
45	EP300	chr7:100182592-100182892	K562	blood:	n/a	chr7:100182785-100182799
46	EP300	chr7:100181406-100181831	GM12878	blood:	n/a	n/a
47	EP300	chr7:100179834-100180232	T-47D	breast:	n/a	n/a
48	EP300	chr7:100182475-100182622	GM12878	blood:	n/a	n/a
49	FOXP2	chr7:100181161-100181672	PFSK-1	brain:	n/a	n/a
50	GABPA	chr7:100181403-100181662	GM12878	blood:	n/a	n/a

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:100175462-100175512	NHDF-neo	bronchial:	n/a
2	chr7:100182075-100182125	HEEpiC	esophagus:	n/a
3	chr7:100182085-100182135	Hela-S3	cervix:	n/a
4	chr7:100182075-100182125	AoSMC	blood vessel:	n/a
5	chr7:100175462-100175512	AG04450	lung:	fetal
6	chr7:100181701-100181751	H1-hESC	embryonic stem cell:	embryo
7	chr7:100182085-100182135	GM19239	blood:	n/a
8	chr7:100182075-100182125	HNPCEpiC	eye:	n/a
9	chr7:100175462-100175512	HEEpiC	esophagus:	n/a
10	chr7:100181701-100181751	HNPCEpiC	eye:	n/a
11	chr7:100173533-100173583	LNCaP	prostate:	n/a
12	chr7:100182085-100182135	HEK293	kidney:	embryo
13	chr7:100182085-100182135	PANC-1	pancreas:	n/a
14	chr7:100182075-100182125	AG04449	skin:	fetal
15	chr7:100182085-100182135	HL-60	blood:	n/a
16	chr7:100182085-100182135	HRPEpiC	eye:	n/a
17	chr7:100182085-100182135	NHDF-neo	bronchial:	n/a
18	chr7:100174944-100174994	HPAEpiC	pulmonary alveolar:	n/a
19	chr7:100182075-100182125	HCT-116	colon:	n/a
20	chr7:100173533-100173583	SK-N-SH_RA	brain:	n/a
21	chr7:100181701-100181751	NH-A	brain:	n/a
22	chr7:100175462-100175512	HIPEpiC	eye:	n/a
23	chr7:100182075-100182125	SK-N-SH	brain:	n/a
24	chr7:100182075-100182125	BE2_C	brain:	n/a
25	chr7:100175462-100175512	ECC-1	luminal epithelium:	n/a
26	chr7:100181701-100181751	NB4	blood:	n/a
27	chr7:100181701-100181751	SK-N-MC	brain:	n/a
28	chr7:100181701-100181751	HCT-116	colon:	n/a
29	chr7:100182085-100182135	SK-N-SH	brain:	n/a
30	chr7:100175462-100175512	GM12892	blood:	n/a
31	chr7:100182085-100182135	AG10803	skin:	n/a
32	chr7:100175462-100175512	HepG2	liver:	n/a
33	chr7:100175462-100175512	HCM	heart:	n/a
34	chr7:100174944-100174994	GM12878	blood:	n/a
35	chr7:100173533-100173583	HepG2	liver:	n/a
36	chr7:100181701-100181751	HCM	heart:	n/a
37	chr7:100173533-100173583	NB4	blood:	n/a
38	chr7:100182075-100182125	HMEC	breast:	n/a
39	chr7:100182085-100182135	Caco-2	colon:	n/a
40	chr7:100181701-100181751	BJ	skin:	n/a
41	chr7:100174944-100174994	AG09319	gingival:	n/a
42	chr7:100175462-100175512	Jurkat	blood:	n/a
43	chr7:100182085-100182135	MCF-7	breast:	n/a
44	chr7:100182085-100182135	GM12878	blood:	n/a
45	chr7:100175462-100175512	GM12891	blood:	n/a
46	chr7:100182075-100182125	HRPEpiC	eye:	n/a
47	chr7:100182085-100182135	NB4	blood:	n/a
48	chr7:100182085-100182135	ProgFib	skin:	n/a
49	chr7:100181701-100181751	ProgFib	skin:	n/a
50	chr7:100182075-100182125	A549	lung:	n/a

(count:48 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100181018..100185569-chr7:100200264..100204023,6	MCF-7	breast:
2	chr7:100024988..100028445-chr7:100180808..100186978,10	K562	blood:
3	chr7:100181058..100187386-chr7:100198846..100203499,12	K562	blood:
4	chr11:65264056..65266842-chr7:100182390..100184760,2	MCF-7	breast:
5	chr7:100181574..100184448-chr7:100269546..100273047,4	K562	blood:
6	chr7:100182236..100184425-chr7:100238898..100241261,2	MCF-7	breast:
7	chr7:100080109..100082832-chr7:100180830..100183809,4	MCF-7	breast:
8	chr5:109124372..109125150-chr7:100181922..100182732,2	Hela-S3	cervix:
9	chr7:100024997..100029018-chr7:100182448..100185836,5	MCF-7	breast:
10	chr7:100024456..100030636-chr7:100180698..100187996,13	K562	blood:
11	chr7:100171397..100173664-chr7:100281141..100284646,3	K562	blood:
12	chr7:100180512..100183004-chr7:100452297..100454557,2	MCF-7	breast:
13	chr7:100059236..100061028-chr7:100176403..100178856,2	K562	blood:
14	chr7:100181605..100184428-chr7:100302112..100307493,7	MCF-7	breast:
15	chr7:100031924..100034212-chr7:100179842..100183716,3	MCF-7	breast:
16	chr7:100182521..100184068-chr7:100470982..100473122,2	K562	blood:
17	chr7:100070743..100075629-chr7:100178965..100183270,7	K562	blood:
18	chr7:100176059..100178977-chr7:100238614..100240388,2	K562	blood:
19	chr7:100076419..100078761-chr7:100175635..100177478,2	K562	blood:
20	chr7:100182211..100184849-chr7:100486903..100489190,3	MCF-7	breast:
21	chr7:100182086..100185168-chr7:100253147..100256450,3	MCF-7	breast:
22	chr7:100065519..100069193-chr7:100181232..100183900,3	MCF-7	breast:
23	chr7:100075297..100078487-chr7:100182577..100184592,4	MCF-7	breast:
24	chr7:100180934..100186212-chr7:100208003..100211666,10	K562	blood:
25	chr7:100080695..100082892-chr7:100181914..100185450,4	MCF-7	breast:
26	chr7:100181643..100184250-chr7:100471958..100474283,2	MCF-7	breast:
27	chr7:100182617..100185782-chr7:100284570..100287283,3	MCF-7	breast:
28	chr7:100182175..100185247-chr7:100208524..100211802,7	K562	blood:
29	chr7:100181910..100186072-chr7:100207984..100213440,10	MCF-7	breast:
30	chr7:100182574..100183531-chr7:100200856..100201701,2	K562	blood:
31	chr7:100181696..100183356-chr7:100285003..100287484,2	K562	blood:
32	chr7:100178369..100186125-chr7:100269651..100278553,26	MCF-7	breast:
33	chr7:100136348..100138859-chr7:100182557..100185063,3	MCF-7	breast:
34	chr7:100180263..100184567-chr7:100269497..100273047,5	K562	blood:
35	chr7:100026775..100029248-chr7:100181334..100183939,2	MCF-7	breast:
36	chr7:100075021..100078361-chr7:100180649..100185937,5	MCF-7	breast:
37	chr7:100179326..100185857-chr7:100269460..100275597,19	MCF-7	breast:
38	chr7:100181873..100185085-chr7:100229346..100230888,3	MCF-7	breast:
39	chr7:100025492..100028279-chr7:100180739..100182375,3	MCF-7	breast:
40	chr7:100179244..100181643-chr7:100480633..100482895,2	MCF-7	breast:
41	chr7:100075632..100078427-chr7:100182362..100185442,6	K562	blood:
42	chr7:100182178..100184822-chr7:100229744..100231921,2	K562	blood:
43	chr7:100182229..100186397-chr7:100301308..100304608,4	MCF-7	breast:
44	chr7:100031790..100034595-chr7:100181557..100184454,2	MCF-7	breast:
45	chr7:100181244..100182815-chr7:100224206..100225875,2	MCF-7	breast:
46	chr7:100135877..100137947-chr7:100173185..100175230,2	K562	blood:
47	chr7:100179385..100182357-chr7:100273234..100275046,2	K562	blood:
48	chr7:100075509..100078207-chr7:100182258..100185575,5	K562	blood:

No data

Variant related genes	Relation type
LRCH4	TF binding region
FBXO24	TF binding region
SAP25	TF binding region
LRCH4	CpG island
FBXO24	CpG island
SAP25	CpG island
ENSG00000106351	chromatin interactions
ENSG00000224729	chromatin interactions
ENSG00000172354	chromatin interactions
ENSG00000106327	chromatin interactions
ENSG00000087087	chromatin interactions
ENSG00000106333	chromatin interactions
ENSG00000241357	chromatin interactions
ENSG00000146828	chromatin interactions
ENSG00000172336	chromatin interactions
ENSG00000078487	chromatin interactions
ENSG00000264758	chromatin interactions
ENSG00000176125	chromatin interactions
ENSG00000166925	chromatin interactions
ENSG00000077080	chromatin interactions
ENSG00000266372	chromatin interactions
ENSG00000146830	chromatin interactions
ENSG00000106330	chromatin interactions
ENSG00000270117	chromatin interactions
ENSG00000166924	chromatin interactions
ENSG00000146834	chromatin interactions
ENSG00000160813	chromatin interactions
ENSG00000251562	chromatin interactions
ENSG00000240211	chromatin interactions

Extended variants
information (count: 571 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:571 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73711137	chr7:100172495-100172496	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs112238718	chr7:100172525-100172526	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs74987581	chr7:100172559-100172560	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
4	rs577358634	chr7:100172561-100172562	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs141971636	chr7:100172591-100172592	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs544565317	chr7:100172651-100172652	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs560097910	chr7:100172662-100172663	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs527951964	chr7:100172663-100172664	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs543289455	chr7:100172665-100172666	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs558851090	chr7:100172697-100172698	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs573588388	chr7:100172700-100172701	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs2246545	chr7:100172733-100172734	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs369773140	chr7:100172747-100172748	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs149939717	chr7:100172759-100172760	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs531938270	chr7:100172761-100172762	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs144934792	chr7:100172774-100172775	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs201058555	chr7:100172783-100172784	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs377536480	chr7:100172795-100172796	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs532653065	chr7:100172812-100172813	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs201639027	chr7:100172813-100172814	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs149064405	chr7:100172819-100172820	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs144124953	chr7:100172829-100172830	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs369534057	chr7:100172845-100172846	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs566082625	chr7:100172847-100172848	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs3197597	chr7:100172858-100172859	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs373733500	chr7:100172869-100172870	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs74868617	chr7:100172871-100172872	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs370810162	chr7:100172875-100172876	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs373589205	chr7:100172877-100172878	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs201734399	chr7:100172885-100172886	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs567273164	chr7:100172914-100172915	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs370267346	chr7:100172951-100172952	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs537643965	chr7:100172964-100172965	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs555952544	chr7:100172969-100172970	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs139678373	chr7:100172970-100172971	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs544727100	chr7:100173013-100173014	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs553618755	chr7:100173046-100173047	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs571982837	chr7:100173047-100173048	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs542302737	chr7:100173052-100173053	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs181648905	chr7:100173061-100173062	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs532053160	chr7:100173063-100173064	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs543985732	chr7:100173092-100173093	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs565499765	chr7:100173116-100173117	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs532616180	chr7:100173135-100173136	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs547855694	chr7:100173172-100173173	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs566069629	chr7:100173182-100173183	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs530103249	chr7:100173190-100173191	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs548334520	chr7:100173196-100173197	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs567185446	chr7:100173212-100173213	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs144634470	chr7:100173215-100173216	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Stenocardia	21860640	CNVD
Vasospasm	21860640	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
Acute lymphoblastic leukemia	21339820	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21364760	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Autism	21865298	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:769 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100154600-100173600	Weak transcription	HSMMtube	muscle
2	chr7:100160800-100172800	Weak transcription	Aorta	Aorta
3	chr7:100167600-100173600	Weak transcription	HSMM	muscle
4	chr7:100168000-100172800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr7:100168000-100172800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr7:100168000-100179800	Weak transcription	Right Atrium	heart
7	chr7:100168200-100172600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr7:100168200-100172600	Weak transcription	Ovary	ovary
9	chr7:100168200-100172800	Weak transcription	Brain Angular Gyrus	brain
10	chr7:100168200-100172800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr7:100168200-100177600	Weak transcription	HMEC	breast
12	chr7:100168600-100175200	Weak transcription	Osteobl	bone
13	chr7:100168600-100179600	Strong transcription	NHLF	lung
14	chr7:100168800-100173800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr7:100168800-100175400	Weak transcription	HUVEC	blood vessel
16	chr7:100168800-100175800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr7:100168800-100177400	Weak transcription	NHDF-Ad	bronchial
18	chr7:100169200-100172800	Weak transcription	Primary B cells from cord blood	blood
19	chr7:100169400-100178200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr7:100169400-100178400	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr7:100169600-100172800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr7:100169600-100172800	Strong transcription	Lung	lung
23	chr7:100169600-100176200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr7:100169600-100178600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr7:100169600-100179000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr7:100169600-100180000	Strong transcription	Fetal Intestine Small	intestine
27	chr7:100169600-100180200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr7:100169800-100172600	Weak transcription	Duodenum Mucosa	Duodenum
29	chr7:100169800-100172800	Weak transcription	Liver	Liver
30	chr7:100169800-100176200	Weak transcription	A549	lung
31	chr7:100169800-100177200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:100169800-100178200	Weak transcription	Fetal Heart	heart
33	chr7:100169800-100179400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr7:100169800-100180000	Strong transcription	Thymus	Thymus
35	chr7:100170000-100172600	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr7:100170000-100172800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr7:100170000-100173400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr7:100170000-100174400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr7:100170000-100175400	Weak transcription	GM12878-XiMat	blood
40	chr7:100170000-100175600	Weak transcription	K562	blood
41	chr7:100170000-100177600	Weak transcription	Fetal Kidney	kidney
42	chr7:100170000-100178200	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr7:100170000-100181200	Weak transcription	Hela-S3	cervix
44	chr7:100170200-100177400	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr7:100170200-100178000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr7:100170200-100178600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr7:100170200-100180200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr7:100170200-100180200	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr7:100170200-100180800	Strong transcription	Brain Germinal Matrix	brain
50	chr7:100170400-100172600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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