Variant report

Variant	rs10078671
Chromosome Location	chr5:74902848-74902849
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:37)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:37 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:74902700-74902850	NHEK	skin:	n/a	n/a
2	CTCF	chr5:74902735-74902853	Hela-S3	cervix:	n/a	n/a
3	CTCF	chr5:74902700-74902850	HCPEpiC	choroid plexus:	n/a	n/a
4	CTCF	chr5:74902740-74902890	GM12864	blood:	n/a	n/a
5	CTCF	chr5:74902740-74902890	GM12873	blood:	n/a	n/a
6	CTCF	chr5:74902720-74902870	HepG2	liver:	n/a	n/a
7	CTCF	chr5:74902760-74902910	GM12875	blood:	n/a	n/a
8	CTCF	chr5:74902725-74902919	GM12878	blood:	n/a	n/a
9	POU2F2	chr5:74902695-74902876	GM12878	blood:	n/a	n/a
10	CTCF	chr5:74902720-74902870	MCF-7	breast:	n/a	n/a
11	CTCF	chr5:74902700-74902850	MCF-7	breast:	n/a	n/a
12	CTCF	chr5:74902720-74902870	GM06990	blood:	n/a	n/a
13	CTCF	chr5:74902760-74902910	GM12870	blood:	n/a	n/a
14	CTCF	chr5:74902700-74902850	GM12871	blood:	n/a	n/a
15	CTCF	chr5:74902700-74902850	HMF	breast:	n/a	n/a
16	RAD21	chr5:74902690-74902861	GM12878	blood:	n/a	n/a
17	CTCF	chr5:74902740-74902890	HCM	heart:	n/a	n/a
18	CTCF	chr5:74902720-74902870	HCPEpiC	choroid plexus:	n/a	n/a
19	CTCF	chr5:74902700-74902850	HPAF	blood vessel:	n/a	n/a
20	CTCF	chr5:74902760-74902910	HFF	foreskin:	n/a	n/a
21	POLR2A	chr5:74902705-74903075	GM12878	blood:	n/a	n/a
22	CTCF	chr5:74902760-74902910	HCFaa	heart:	n/a	n/a
23	CTCF	chr5:74902780-74902930	GM12874	blood:	n/a	n/a
24	CTCF	chr5:74902720-74902870	HMF	breast:	n/a	n/a
25	CTCF	chr5:74902720-74902870	HVMF	connective:	n/a	n/a
26	CTCF	chr5:74902760-74902910	HRPEpiC	eye:	n/a	n/a
27	CTCF	chr5:74902700-74902850	HEK293	kidney:	n/a	n/a
28	CTCF	chr5:74902700-74902850	GM12864	blood:	n/a	n/a
29	CTCF	chr5:74902760-74902910	NHDF-neo	bronchial:	n/a	n/a
30	CTCF	chr5:74902700-74902850	GM06990	blood:	n/a	n/a
31	CTCF	chr5:74902700-74902850	GM12872	blood:	n/a	n/a
32	CTCF	chr5:74902720-74902870	AG04450	lung:	n/a	n/a
33	POU2F2	chr5:74902602-74902981	GM12878	blood:	n/a	n/a
34	CTCF	chr5:74902700-74902850	AG09309	skin:	n/a	n/a
35	POLR2A	chr5:74902732-74903008	K562	blood:	n/a	n/a
36	CTCF	chr5:74902740-74902890	HPF	lung:	n/a	n/a
37	CTCF	chr5:74902740-74902890	BE2_C	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:74868580..74871320-chr5:74902166..74903871,2	MCF-7	breast:

No data

Variant related genes	Relation type
ANKDD1B	TF binding region
ENSG00000272040	TF binding region

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10036682	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10038945	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10041470	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10055011	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10059022	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10061689	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10067900	1.00[CEU][hapmap];0.81[CHB][hapmap];0.93[JPT][hapmap];0.89[EUR][1000 genomes]
rs10074747	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10076819	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10077427	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10474437	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12173076	0.85[EUR][1000 genomes]
rs13360099	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13361353	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1469051	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1553234	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1820049	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1909719	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2287710	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs253410	0.85[ASN][1000 genomes]
rs28408106	0.89[EUR][1000 genomes]
rs28612248	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28668361	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28874007	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34339	0.85[ASN][1000 genomes]
rs34342	0.85[ASN][1000 genomes]
rs34343	0.85[ASN][1000 genomes]
rs34349	0.80[ASN][1000 genomes]
rs3804231	0.89[EUR][1000 genomes]
rs4703675	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4704213	0.89[EUR][1000 genomes]
rs4704229	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56859362	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5744544	0.90[EUR][1000 genomes]
rs5744545	0.89[EUR][1000 genomes]
rs5744636	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5744667	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5744704	1.00[CEU][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5744709	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5744712	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57907925	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58841453	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6891560	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72633965	0.89[EUR][1000 genomes]
rs72633966	0.82[EUR][1000 genomes]
rs72633967	0.91[EUR][1000 genomes]
rs72633968	0.88[EUR][1000 genomes]
rs72633969	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72633970	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72633971	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72633972	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72633973	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72633974	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72633975	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72633976	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72633977	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7356633	0.89[EUR][1000 genomes]
rs7726478	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs904743	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9293652	1.00[CEU][hapmap];0.86[CHB][hapmap];0.88[JPT][hapmap];0.89[EUR][1000 genomes]
rs9293654	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9293655	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs979182	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882193	chr5:74656175-74917862	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv882194	chr5:74656175-74946455	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv882196	chr5:74678937-74917862	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv882197	chr5:74692776-74946455	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv882199	chr5:74757758-74946455	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv882202	chr5:74808417-74946455	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv518475	chr5:74863041-75411804	Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	esv1850196	chr5:74890618-75138443	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74833400-74906800	Weak transcription	Brain Substantia Nigra	brain
2	chr5:74862800-74907200	Weak transcription	Esophagus	oesophagus
3	chr5:74863600-74905800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr5:74863800-74906800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr5:74864000-74907000	Weak transcription	Psoas Muscle	Psoas
6	chr5:74865800-74906800	Weak transcription	Colonic Mucosa	Colon
7	chr5:74867600-74907200	Weak transcription	Small Intestine	intestine
8	chr5:74873600-74907000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr5:74875200-74907000	Weak transcription	Right Ventricle	heart
10	chr5:74875800-74903400	Weak transcription	Fetal Thymus	thymus
11	chr5:74879000-74907000	Weak transcription	HepG2	liver
12	chr5:74889800-74906200	Weak transcription	Fetal Intestine Small	intestine
13	chr5:74889800-74906800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr5:74889800-74907200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr5:74890400-74907000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr5:74892800-74907000	Weak transcription	Colon Smooth Muscle	Colon
17	chr5:74893200-74906800	Weak transcription	Stomach Mucosa	stomach
18	chr5:74894400-74908200	Weak transcription	GM12878-XiMat	blood
19	chr5:74896600-74907000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr5:74896600-74907000	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr5:74896600-74907000	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr5:74896600-74907200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr5:74896800-74907000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr5:74897000-74906800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr5:74897200-74906800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr5:74897800-74903200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr5:74897800-74907000	Weak transcription	Gastric	stomach
28	chr5:74898200-74904400	Weak transcription	Dnd41	blood
29	chr5:74898200-74905400	Weak transcription	A549	lung
30	chr5:74898200-74906600	Weak transcription	Liver	Liver
31	chr5:74898200-74906800	Weak transcription	Brain Hippocampus Middle	brain
32	chr5:74898200-74906800	Weak transcription	Fetal Brain Female	brain
33	chr5:74898200-74906800	Weak transcription	Ovary	ovary
34	chr5:74898200-74906800	Weak transcription	Pancreas	Pancrea
35	chr5:74898200-74906800	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr5:74898200-74907000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr5:74898200-74907000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr5:74898200-74907000	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr5:74898200-74907000	Weak transcription	NHDF-Ad	bronchial
40	chr5:74898200-74907200	Weak transcription	Spleen	Spleen
41	chr5:74898400-74906400	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr5:74898400-74906800	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr5:74898400-74906800	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr5:74898400-74907000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr5:74898400-74907000	Weak transcription	Fetal Intestine Large	intestine
46	chr5:74898400-74907000	Weak transcription	Fetal Muscle Trunk	muscle
47	chr5:74898400-74907000	Weak transcription	Stomach Smooth Muscle	stomach
48	chr5:74898400-74907200	Weak transcription	Lung	lung
49	chr5:74898400-74907200	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr5:74898400-74907200	Weak transcription	Thymus	Thymus

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