Variant report

Variant	rs2287710
Chromosome Location	chr5:74898866-74898867
allele	C/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	POLR2A	chr5:74898029-74899595	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:74893769..74896975-chr5:74898744..74901246,3	K562	blood:

Variant related genes	Relation type
ENSG00000248881	TF binding region
ENSG00000248881	Chromatin interaction

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

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

rs_ID	r²[population]
rs10036682	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10038945	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10041470	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10055011	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10059022	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10061689	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10067900	0.88[EUR][1000 genomes]
rs10074747	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10076819	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10077427	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10078671	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10474437	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12173076	0.84[EUR][1000 genomes]
rs13360099	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13361353	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1469051	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1553234	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1820049	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1909719	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs253410	0.85[ASN][1000 genomes]
rs28408106	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs28612248	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28668361	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28874007	0.87[AMR][1000 genomes];0.97[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	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs4703675	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4704213	0.88[EUR][1000 genomes]
rs4704229	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56859362	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5744544	0.89[EUR][1000 genomes]
rs5744545	0.88[EUR][1000 genomes]
rs5744636	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5744667	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5744704	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5744709	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5744712	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57907925	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58841453	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6891560	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72633965	0.88[EUR][1000 genomes]
rs72633966	0.81[EUR][1000 genomes]
rs72633967	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs72633968	0.87[EUR][1000 genomes]
rs72633969	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72633970	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72633971	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72633972	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72633973	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72633974	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72633975	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72633976	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72633977	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7356633	0.88[EUR][1000 genomes]
rs7726478	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs904743	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9293652	0.88[EUR][1000 genomes]
rs9293654	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9293655	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs979182	0.84[AMR][1000 genomes];0.91[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:115 , 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	chr5:74841200-74899400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr5:74862800-74907200	Weak transcription	Esophagus	oesophagus
4	chr5:74863600-74905800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr5:74863800-74906800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr5:74864000-74899600	Weak transcription	Hela-S3	cervix
7	chr5:74864000-74907000	Weak transcription	Psoas Muscle	Psoas
8	chr5:74865800-74906800	Weak transcription	Colonic Mucosa	Colon
9	chr5:74867600-74907200	Weak transcription	Small Intestine	intestine
10	chr5:74871800-74900600	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr5:74873600-74907000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr5:74873800-74899200	Weak transcription	K562	blood
13	chr5:74873800-74901000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr5:74875200-74907000	Weak transcription	Right Ventricle	heart
15	chr5:74875800-74903400	Weak transcription	Fetal Thymus	thymus
16	chr5:74877400-74899200	Weak transcription	HUVEC	blood vessel
17	chr5:74878200-74899000	Weak transcription	HMEC	breast
18	chr5:74878600-74901200	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr5:74879000-74907000	Weak transcription	HepG2	liver
20	chr5:74884600-74901200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr5:74885400-74901000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:74889800-74906200	Weak transcription	Fetal Intestine Small	intestine
23	chr5:74889800-74906800	Weak transcription	Duodenum Mucosa	Duodenum
24	chr5:74889800-74907200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr5:74890400-74907000	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr5:74892800-74901000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:74892800-74907000	Weak transcription	Colon Smooth Muscle	Colon
28	chr5:74893200-74906800	Weak transcription	Stomach Mucosa	stomach
29	chr5:74893400-74901400	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr5:74894400-74908200	Weak transcription	GM12878-XiMat	blood
31	chr5:74894800-74899600	Strong transcription	Primary B cells from cord blood	blood
32	chr5:74895200-74899600	Strong transcription	HSMM	muscle
33	chr5:74895800-74900800	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr5:74896600-74900000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr5:74896600-74902000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr5:74896600-74907000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr5:74896600-74907000	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr5:74896600-74907000	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr5:74896600-74907200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr5:74896800-74900200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr5:74896800-74907000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr5:74897000-74899200	Strong transcription	Primary B cells from peripheral blood	blood
43	chr5:74897000-74899800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr5:74897000-74906800	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr5:74897200-74900600	Strong transcription	Fetal Muscle Leg	muscle
46	chr5:74897200-74906800	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr5:74897400-74899000	Genic enhancers	NHEK	skin
48	chr5:74897400-74899200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr5:74897400-74899200	Strong transcription	Brain Inferior Temporal Lobe	brain
50	chr5:74897400-74899400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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