Variant report

Variant	rs227585
Chromosome Location	chr4:187635353-187635354
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:187634755..187638971-chr4:187642720..187646926,4	K562	blood:

Variant related genes	Relation type
ENSG00000083857	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11939575	1.00[CEU][hapmap];0.85[CHB][hapmap];0.91[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13123522	0.95[CEU][hapmap];0.85[CHB][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1877731	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs327068	0.89[ASN][1000 genomes]
rs327070	0.86[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs327103	0.90[ASN][1000 genomes]
rs367863	0.94[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs466535	0.91[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs950113	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs997696	0.86[CHB][hapmap];0.87[JPT][hapmap];0.85[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	nsv1025088	chr4:187407683-187674585	Genic enhancers Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1025244	chr4:187419770-188284813	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1034212	chr4:187437895-188030805	Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv537438	chr4:187437895-188030805	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv532745	chr4:187471692-188205443	Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv1022262	chr4:187475862-187848284	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv1024705	chr4:187534005-187849091	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv1026970	chr4:187537418-187913351	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv596440	chr4:187538133-187848075	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187626400-187643600	Weak transcription	Stomach Mucosa	stomach
2	chr4:187630400-187643600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:187630600-187635400	Weak transcription	Right Atrium	heart
4	chr4:187630600-187638800	Weak transcription	Gastric	stomach
5	chr4:187630600-187638800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr4:187630600-187641600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr4:187630800-187636600	Weak transcription	Aorta	Aorta
8	chr4:187630800-187636800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr4:187631000-187635400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr4:187631000-187635400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr4:187631000-187635800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr4:187631000-187636600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr4:187631000-187638400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr4:187631000-187639000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr4:187631000-187639200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr4:187631000-187640000	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr4:187631000-187641200	Weak transcription	Fetal Kidney	kidney
18	chr4:187631000-187643600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr4:187631200-187636800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr4:187631800-187635800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:187632200-187636200	Weak transcription	Pancreas	Pancrea
22	chr4:187632400-187636600	Weak transcription	NHLF	lung
23	chr4:187632400-187636800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr4:187632400-187638800	Weak transcription	A549	lung
25	chr4:187633400-187635600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr4:187633600-187635400	Enhancers	Osteobl	bone
27	chr4:187633600-187635600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr4:187633600-187635800	Genic enhancers	NHEK	skin
29	chr4:187633800-187635400	Strong transcription	Fetal Intestine Small	intestine
30	chr4:187633800-187635600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr4:187633800-187635600	Enhancers	Left Ventricle	heart
32	chr4:187633800-187635800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr4:187633800-187635800	Enhancers	HSMMtube	muscle
34	chr4:187633800-187640000	Weak transcription	NHDF-Ad	bronchial
35	chr4:187634200-187635600	Weak transcription	HepG2	liver
36	chr4:187634200-187636200	Enhancers	HMEC	breast
37	chr4:187634400-187636600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr4:187634400-187636600	Weak transcription	NH-A	brain
39	chr4:187634600-187635600	Enhancers	Right Ventricle	heart
40	chr4:187634600-187636200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr4:187634600-187636600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr4:187634600-187637200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr4:187634600-187637200	Enhancers	Fetal Heart	heart
44	chr4:187634800-187635600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
45	chr4:187634800-187636200	ZNF genes & repeats	Fetal Stomach	stomach
46	chr4:187634800-187636600	Enhancers	Ovary	ovary
47	chr4:187634800-187636800	Weak transcription	Fetal Lung	lung
48	chr4:187634800-187640000	Weak transcription	HSMM	muscle
49	chr4:187634800-187644200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr4:187635000-187635400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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