Variant report

Variant	rs7908852
Chromosome Location	chr10:90694793-90694794
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:226)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:226 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr10:90694680-90694830	HA-sp	spinal cord:	n/a	n/a
2	MYC	chr10:90694695-90694810	MCF-7	breast:	n/a	chr10:90694727-90694737
3	RAD21	chr10:90694667-90694812	K562	blood:	n/a	n/a
4	CTCF	chr10:90694700-90694850	Caco-2	colon:	n/a	n/a
5	CTCF	chr10:90694680-90694830	GM12866	blood:	n/a	n/a
6	CTCF	chr10:90694720-90694870	GM12872	blood:	n/a	n/a
7	BHLHE40	chr10:90694594-90695576	GM12878	blood:	n/a	n/a
8	CTCF	chr10:90694660-90694810	HPF	lung:	n/a	n/a
9	CTCF	chr10:90694660-90694810	GM12801	blood:	n/a	n/a
10	CTCF	chr10:90694700-90694850	K562	blood:	n/a	n/a
11	CTCF	chr10:90694700-90694850	NHLF	lung:	n/a	n/a
12	RAD21	chr10:90694544-90695525	IMR90	lung:	n/a	n/a
13	GATA3	chr10:90694622-90694964	T-47D	breast:	n/a	n/a
14	RCOR1	chr10:90694664-90694933	HepG2	liver:	n/a	n/a
15	CTCF	chr10:90694622-90694884	A549	lung:	n/a	n/a
16	CTCF	chr10:90694622-90694893	LNCaP	prostate:	n/a	n/a
17	CTCF	chr10:90694573-90694872	SK-N-SH_RA	brain:	n/a	n/a
18	CTCF	chr10:90694680-90694830	HMF	breast:	n/a	n/a
19	CTCF	chr10:90694625-90694886	Pancreas_OC	pancreas:	n/a	n/a
20	CTCF	chr10:90694542-90695822	SK-N-SH	brain:	n/a	chr10:90695626-90695635
21	MAX	chr10:90694601-90694904	H1-hESC	embryonic stem cell:	n/a	chr10:90694727-90694737
22	CTCF	chr10:90694386-90695806	HCT-116	colon:	n/a	chr10:90695626-90695635
23	CTCF	chr10:90694646-90694856	MCF-7	breast:	n/a	n/a
24	CTCF	chr10:90694652-90694851	H1-hESC	embryonic stem cell:	n/a	n/a
25	BCLAF1	chr10:90694507-90695585	GM12878	blood:	n/a	n/a
26	CTCF	chr10:90694680-90694830	SAEC	small airway:	n/a	n/a
27	CTCF	chr10:90694619-90694911	HepG2	liver:	n/a	n/a
28	MYC	chr10:90694585-90694911	MCF10A-Er-Src	breast:	n/a	chr10:90694727-90694737
29	FOXM1	chr10:90694523-90695503	GM12878	blood:	n/a	n/a
30	CEBPB	chr10:90694552-90695638	GM12878	blood:	n/a	n/a
31	BHLHE40	chr10:90694601-90694913	HepG2	liver:	n/a	n/a
32	CTCF	chr10:90694331-90696214	A549	lung:	n/a	chr10:90695626-90695635
33	RAD21	chr10:90694555-90695597	GM12878	blood:	n/a	n/a
34	RAD21	chr10:90694624-90694880	GM12878	blood:	n/a	n/a
35	CTCF	chr10:90694660-90694810	NHDF-neo	bronchial:	n/a	n/a
36	CTCF	chr10:90694582-90694943	HUVEC	blood vessel:	n/a	n/a
37	CTCF	chr10:90694660-90694810	SAEC	small airway:	n/a	n/a
38	CTCF	chr10:90694585-90694895	HepG2	liver:	n/a	n/a
39	RAD21	chr10:90694530-90695628	ECC-1	luminal epithelium:	n/a	n/a
40	RAD21	chr10:90694521-90695786	ECC-1	luminal epithelium:	n/a	n/a
41	CTCF	chr10:90694700-90694850	HUVEC	blood vessel:	n/a	n/a
42	CTCF	chr10:90694536-90694948	K562	blood:	n/a	n/a
43	CTCF	chr10:90694660-90694810	BJ	skin:	n/a	n/a
44	CTCF	chr10:90694660-90694810	HCM	heart:	n/a	n/a
45	CTCF	chr10:90694639-90694853	GM20000	blood:	n/a	n/a
46	CTCF	chr10:90694593-90695449	Lung_OC	lung:	n/a	n/a
47	MYC	chr10:90694654-90694814	HUVEC	blood vessel:	n/a	chr10:90694727-90694737
48	CHD2	chr10:90694634-90695370	Hela-S3	cervix:	n/a	n/a
49	CTCF	chr10:90694614-90694916	GM10266	blood:	n/a	n/a
50	CTCF	chr10:90694660-90694810	HRE	kidney:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:90694072..90695760-chr10:90972688..90973953,5	K562	blood:
2	chr10:90694289..90695530-chr10:90746407..90747396,8	K562	blood:
3	chr10:90694766..90695788-chr10:90977194..90977863,3	MCF-7	breast:
4	chr10:90694469..90695004-chr10:90977172..90978110,2	MCF-7	breast:
5	chr10:90693883..90696142-chr10:90743433..90746344,2	MCF-7	breast:
6	chr10:90694758..90695380-chr10:90973136..90973942,2	MCF-7	breast:
7	chr10:90694253..90695800-chr10:90745177..90747385,25	MCF-7	breast:
8	chr10:90694789..90695368-chr10:90747585..90748463,2	MCF-7	breast:
9	chr10:90694284..90695841-chr10:90746413..90747615,9	MCF-7	breast:

No data

Variant related genes	Relation type
ACTA2-AS1	TF binding region

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10509558	0.91[CHB][hapmap];1.00[TSI][hapmap]
rs10509559	0.91[CHB][hapmap]
rs10509560	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[ASN][1000 genomes]
rs10887870	1.00[ASN][1000 genomes]
rs11202906	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11202907	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12242274	0.91[CHB][hapmap];1.00[TSI][hapmap]
rs12243282	0.91[CHB][hapmap]
rs12243621	0.91[CHB][hapmap]
rs12247227	0.88[CHB][hapmap]
rs12254451	1.00[TSI][hapmap]
rs12257540	1.00[TSI][hapmap]
rs12260572	0.91[CHB][hapmap]
rs12262461	0.91[CHB][hapmap]
rs12263461	1.00[TSI][hapmap]
rs12264840	1.00[CHB][hapmap];0.92[ASN][1000 genomes]
rs12413277	1.00[TSI][hapmap]
rs17113344	1.00[TSI][hapmap]
rs17113426	1.00[TSI][hapmap]
rs17113942	0.91[CHB][hapmap]
rs17113959	0.91[CHB][hapmap]
rs17114000	0.91[CHB][hapmap]
rs17114016	0.91[CHB][hapmap]
rs17114020	0.91[CHB][hapmap]
rs17114024	0.91[CHB][hapmap]
rs17114057	0.91[CHB][hapmap]
rs17114116	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs17114143	1.00[CHB][hapmap]
rs17114182	0.80[ASN][1000 genomes]
rs17114186	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.98[ASN][1000 genomes]
rs17114283	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[ASN][1000 genomes]
rs2119685	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2231780	0.91[CHB][hapmap]
rs2231785	0.91[CHB][hapmap]
rs2231786	0.91[CHB][hapmap];1.00[TSI][hapmap]
rs3781206	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[ASN][1000 genomes]
rs3781208	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs3781212	1.00[ASN][1000 genomes]
rs3814691	1.00[TSI][hapmap]
rs3816245	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[ASN][1000 genomes]
rs3898173	0.91[CHB][hapmap]
rs3898174	0.91[CHB][hapmap]
rs41284112	0.88[AFR][1000 genomes]
rs59597720	0.82[AFR][1000 genomes]
rs7070713	1.00[CHB][hapmap]
rs7077019	1.00[TSI][hapmap]
rs7078383	1.00[CHB][hapmap];0.92[ASN][1000 genomes]
rs7085698	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7090631	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7098235	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7897521	1.00[CHB][hapmap];0.94[CHD][hapmap];0.92[ASN][1000 genomes]
rs7915393	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529324	chr10:90198865-90738588	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1042848	chr10:90466032-91318474	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv540741	chr10:90466032-91318474	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	nsv831942	chr10:90564697-90730352	Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv831943	chr10:90664836-90865834	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:90655200-90701400	Weak transcription	Gastric	stomach
2	chr10:90660400-90695000	Weak transcription	Fetal Brain Male	brain
3	chr10:90664400-90694800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr10:90668400-90694800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr10:90675800-90696400	Weak transcription	Spleen	Spleen
6	chr10:90678000-90694800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr10:90681400-90697800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr10:90682000-90694800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr10:90683800-90694800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr10:90684800-90694800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr10:90685800-90695000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr10:90686000-90694800	Weak transcription	Stomach Mucosa	stomach
13	chr10:90686000-90697600	Weak transcription	Left Ventricle	heart
14	chr10:90686600-90694800	Weak transcription	Brain Substantia Nigra	brain
15	chr10:90686800-90694800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr10:90686800-90694800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr10:90686800-90694800	Weak transcription	Liver	Liver
18	chr10:90686800-90697800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr10:90687000-90695000	Weak transcription	Primary B cells from cord blood	blood
20	chr10:90687400-90694800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr10:90687400-90695000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr10:90687600-90694800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr10:90687600-90694800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr10:90687600-90694800	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr10:90687600-90694800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr10:90687600-90694800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr10:90687600-90694800	Weak transcription	Fetal Thymus	thymus
28	chr10:90687600-90694800	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr10:90687800-90694800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr10:90688200-90694800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr10:90688200-90694800	Weak transcription	Dnd41	blood
32	chr10:90688600-90694800	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr10:90688800-90694800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr10:90689200-90694800	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr10:90689200-90695000	Weak transcription	Primary T cells from cord blood	blood
36	chr10:90689400-90694800	Weak transcription	Primary hematopoietic stem cells	blood
37	chr10:90689400-90694800	Weak transcription	HSMM	muscle
38	chr10:90691400-90697800	Weak transcription	Small Intestine	intestine
39	chr10:90692000-90694800	Weak transcription	Esophagus	oesophagus
40	chr10:90692400-90694800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr10:90692400-90694800	Weak transcription	NH-A	brain
42	chr10:90692400-90695000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr10:90692400-90695000	Weak transcription	Lung	lung
44	chr10:90692400-90695000	Weak transcription	Ovary	ovary
45	chr10:90692400-90699200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr10:90692400-90711000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr10:90692600-90694800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr10:90692600-90694800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr10:90692600-90694800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr10:90692600-90694800	Weak transcription	Primary neutrophils fromperipheralblood	blood

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