Variant report

Variant	rs62344826
Chromosome Location	chr4:187762236-187762237
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:187675497..187677160-chr4:187761262..187763373,2	K562	blood:
2	chr4:187678906..187683717-chr4:187759273..187763131,7	K562	blood:
3	chr4:187675660..187683717-chr4:187759108..187768484,20	K562	blood:
4	chr4:187761346..187763070-chr4:187833747..187836237,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10000282	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10006400	1.00[ASN][1000 genomes]
rs10019663	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1431930	1.00[ASN][1000 genomes]
rs1431933	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1431937	1.00[ASN][1000 genomes]
rs1431938	1.00[ASN][1000 genomes]
rs1560547	1.00[ASN][1000 genomes]
rs1821137	1.00[ASN][1000 genomes]
rs2043204	1.00[ASN][1000 genomes]
rs2060139	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2375938	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs322408	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs322450	1.00[ASN][1000 genomes]
rs322455	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4241835	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4862739	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62343076	0.82[AMR][1000 genomes]
rs62344821	1.00[ASN][1000 genomes]
rs62345960	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62345966	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62345967	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62345968	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62345970	0.82[AMR][1000 genomes]
rs6814542	1.00[ASN][1000 genomes]
rs6821756	1.00[ASN][1000 genomes]
rs7697279	0.89[EUR][1000 genomes]
rs919649	1.00[ASN][1000 genomes]

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	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	nsv1031603	chr4:187636716-188020741	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv880401	chr4:187668795-188047143	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv596441	chr4:187695564-187786316	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187760200-187762400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr4:187760600-187762600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr4:187760600-187762600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:187760800-187762400	Active TSS	Skeletal Muscle Female	skeletal muscle
5	chr4:187760800-187762400	Active TSS	Stomach Smooth Muscle	stomach
6	chr4:187761000-187762400	Active TSS	Duodenum Mucosa	Duodenum
7	chr4:187761200-187762400	Active TSS	Colon Smooth Muscle	Colon
8	chr4:187761200-187762400	Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr4:187761200-187764600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr4:187761200-187764600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr4:187761200-187765200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr4:187761200-187765200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr4:187761200-187765400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr4:187761400-187762400	Enhancers	Hela-S3	cervix
15	chr4:187761400-187762400	Active TSS	Osteobl	bone
16	chr4:187761400-187764800	Weak transcription	NH-A	brain
17	chr4:187761400-187765200	Weak transcription	Fetal Lung	lung
18	chr4:187761400-187765400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr4:187761400-187765400	Weak transcription	A549	lung
20	chr4:187761600-187762400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr4:187761600-187764600	Weak transcription	HUVEC	blood vessel
22	chr4:187761600-187765000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr4:187761800-187762400	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr4:187761800-187762400	Flanking Active TSS	K562	blood
25	chr4:187762000-187762400	Active TSS	Psoas Muscle	Psoas
26	chr4:187762000-187764600	Weak transcription	NHDF-Ad	bronchial
27	chr4:187762000-187764600	Weak transcription	NHEK	skin
28	chr4:187762000-187764800	Weak transcription	HSMM	muscle
29	chr4:187762200-187762400	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr4:187762200-187762400	Flanking Active TSS	Esophagus	oesophagus
31	chr4:187762200-187762400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr4:187762200-187762400	Enhancers	Ovary	ovary
33	chr4:187762200-187762400	Active TSS	NHLF	lung
34	chr4:187762200-187764600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr4:187762200-187764600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr4:187762200-187764600	Weak transcription	Fetal Muscle Leg	muscle
37	chr4:187762200-187764600	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr4:187762200-187764800	Weak transcription	HSMMtube	muscle
39	chr4:187762200-187765000	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr4:187762200-187765000	Weak transcription	Rectal Smooth Muscle	rectum
41	chr4:187762200-187765000	Weak transcription	HMEC	breast
42	chr4:187762200-187765200	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr4:187762200-187765800	Weak transcription	Colonic Mucosa	Colon

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