Variant report

Variant	rs56291937
Chromosome Location	chr3:67674271-67674272
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:67673373..67676039-chr3:67678094..67679786,2	K562	blood:
2	chr3:67669767..67672572-chr3:67674238..67677122,3	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10510965	0.89[EUR][1000 genomes]
rs11127657	0.80[EUR][1000 genomes]
rs11924268	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17046689	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2076913	0.85[EUR][1000 genomes]
rs2363091	0.80[EUR][1000 genomes]
rs2885692	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55662797	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55706427	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55780245	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55811928	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55871518	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55933747	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56149443	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56162614	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56317125	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56341400	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56411806	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57450793	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58637570	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59742261	0.80[EUR][1000 genomes]
rs60283689	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6765734	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6767025	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6798438	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6806897	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6810139	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72929333	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9683084	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9809720	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9824641	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9830311	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9871141	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9882327	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9882828	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470638	chr3:67367341-67814738	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv460700	chr3:67393629-67712970	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv590560	chr3:67393629-67712970	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv590561	chr3:67548852-67690626	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv3359258	chr3:67589615-67828274	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv876922	chr3:67635506-67755257	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers 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	9 gene(s)	inside rSNPs	diseases
7	nsv428739	chr3:67656829-67730379	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr3:67612400-67697200	Weak transcription	Hela-S3	cervix
2	chr3:67629200-67675000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:67631400-67700200	Weak transcription	K562	blood
4	chr3:67640200-67678000	Weak transcription	Small Intestine	intestine
5	chr3:67653800-67679600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr3:67659600-67680800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr3:67659800-67680000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr3:67659800-67681000	Weak transcription	Spleen	Spleen
9	chr3:67659800-67684400	Weak transcription	Esophagus	oesophagus
10	chr3:67659800-67685600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr3:67659800-67690600	Weak transcription	Brain Hippocampus Middle	brain
12	chr3:67659800-67697400	Weak transcription	Colonic Mucosa	Colon
13	chr3:67660000-67680200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr3:67660000-67685600	Weak transcription	HSMMtube	muscle
15	chr3:67660000-67686000	Weak transcription	Gastric	stomach
16	chr3:67660000-67697200	Weak transcription	Lung	lung
17	chr3:67660000-67697400	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr3:67660200-67678200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr3:67660200-67680000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr3:67660400-67677800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr3:67660400-67680200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr3:67660600-67691600	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr3:67661200-67685800	Weak transcription	Pancreas	Pancrea
24	chr3:67661200-67704000	Weak transcription	Fetal Kidney	kidney
25	chr3:67661400-67685200	Weak transcription	NHLF	lung
26	chr3:67661400-67699400	Weak transcription	Stomach Smooth Muscle	stomach
27	chr3:67661400-67700000	Weak transcription	Ovary	ovary
28	chr3:67661400-67701000	Weak transcription	Fetal Lung	lung
29	chr3:67661400-67704000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr3:67661600-67684600	Weak transcription	Osteobl	bone
31	chr3:67661600-67685200	Weak transcription	NHEK	skin
32	chr3:67661600-67703600	Weak transcription	Rectal Smooth Muscle	rectum
33	chr3:67662600-67693000	Weak transcription	HepG2	liver
34	chr3:67663800-67680800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr3:67665000-67692800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr3:67665200-67692000	Weak transcription	Colon Smooth Muscle	Colon
37	chr3:67665400-67679600	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr3:67665600-67679400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr3:67666400-67677000	Strong transcription	Primary B cells from cord blood	blood
40	chr3:67667600-67675400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr3:67668000-67675800	Weak transcription	Placenta	Placenta
42	chr3:67668200-67684600	Weak transcription	NHDF-Ad	bronchial
43	chr3:67668200-67685200	Weak transcription	HMEC	breast
44	chr3:67668200-67687400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr3:67668400-67699600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr3:67668600-67696600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr3:67669200-67691800	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr3:67670000-67680800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr3:67670200-67703400	Weak transcription	Aorta	Aorta
50	chr3:67670400-67675400	Weak transcription	A549	lung

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