Variant report

Variant	rs3822587
Chromosome Location	chr5:74892352-74892353
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr5:74892262-74892551	HepG2	liver:	n/a	n/a
2	FOXA2	chr5:74892279-74892499	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:74889870..74892388-chr5:74899059..74901805,3	K562	blood:
2	chr5:74889934..74892388-chr5:74899059..74901805,2	K562	blood:

Variant related genes	Relation type
POLK	TF binding region

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1004201	0.84[ASN][1000 genomes]
rs10942740	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs11952534	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs11953883	1.00[ASN][1000 genomes]
rs1422441	1.00[ASN][1000 genomes]
rs1422442	1.00[ASN][1000 genomes]
rs16872696	1.00[ASN][1000 genomes]
rs16872701	1.00[ASN][1000 genomes]
rs16872710	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs1991450	1.00[ASN][1000 genomes]
rs2112348	1.00[ASN][1000 genomes]
rs28376795	0.82[ASN][1000 genomes]
rs28562938	0.82[ASN][1000 genomes]
rs3104717	1.00[LWK][hapmap]
rs3104729	1.00[LWK][hapmap]
rs55817530	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55831232	1.00[ASN][1000 genomes]
rs55849961	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55885461	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56348108	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56813297	0.82[ASN][1000 genomes]
rs5744713	1.00[LWK][hapmap];1.00[TSI][hapmap]
rs5744716	1.00[LWK][hapmap]
rs57670471	1.00[ASN][1000 genomes]
rs6895148	1.00[ASN][1000 genomes]
rs888785	0.82[ASN][1000 genomes]
rs9293653	1.00[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv882195	chr5:74678937-74896798	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv882198	chr5:74736065-74896798	Strong transcription Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	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
11	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:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74818200-74897400	Weak transcription	Thymus	Thymus
2	chr5:74822800-74896000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr5:74833400-74906800	Weak transcription	Brain Substantia Nigra	brain
4	chr5:74839400-74897400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr5:74841200-74899400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr5:74850200-74896200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr5:74862200-74897800	Weak transcription	Brain Germinal Matrix	brain
8	chr5:74862600-74897200	Weak transcription	Lung	lung
9	chr5:74862800-74897400	Weak transcription	Pancreas	Pancrea
10	chr5:74862800-74897400	Weak transcription	Spleen	Spleen
11	chr5:74862800-74897600	Weak transcription	Gastric	stomach
12	chr5:74862800-74907200	Weak transcription	Esophagus	oesophagus
13	chr5:74863000-74896200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr5:74863600-74905800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr5:74863800-74906800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr5:74864000-74897400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr5:74864000-74897400	Weak transcription	NHEK	skin
18	chr5:74864000-74899600	Weak transcription	Hela-S3	cervix
19	chr5:74864000-74907000	Weak transcription	Psoas Muscle	Psoas
20	chr5:74865800-74906800	Weak transcription	Colonic Mucosa	Colon
21	chr5:74867600-74907200	Weak transcription	Small Intestine	intestine
22	chr5:74869400-74893400	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr5:74871400-74897400	Weak transcription	Aorta	Aorta
24	chr5:74871400-74897400	Weak transcription	Brain Angular Gyrus	brain
25	chr5:74871400-74897400	Weak transcription	Brain Hippocampus Middle	brain
26	chr5:74871400-74897400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr5:74871800-74900600	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr5:74872200-74893000	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr5:74872400-74898400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr5:74873600-74907000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr5:74873800-74899200	Weak transcription	K562	blood
32	chr5:74873800-74901000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr5:74874600-74897400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr5:74875200-74907000	Weak transcription	Right Ventricle	heart
35	chr5:74875800-74903400	Weak transcription	Fetal Thymus	thymus
36	chr5:74877000-74898400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr5:74877400-74896200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr5:74877400-74899200	Weak transcription	HUVEC	blood vessel
39	chr5:74878200-74892400	Weak transcription	Fetal Brain Female	brain
40	chr5:74878200-74899000	Weak transcription	HMEC	breast
41	chr5:74878400-74898200	Weak transcription	Fetal Brain Male	brain
42	chr5:74878600-74901200	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr5:74879000-74907000	Weak transcription	HepG2	liver
44	chr5:74879600-74897800	Weak transcription	NHLF	lung
45	chr5:74881400-74895800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr5:74881800-74896800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr5:74882400-74897000	Weak transcription	Fetal Lung	lung
48	chr5:74884200-74893600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr5:74884600-74893400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr5:74884600-74901200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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