Variant report

Variant	rs6690187
Chromosome Location	chr1:184160477-184160478
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	chr1:184157500..184160984-chr1:184162695..184165772,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10752934	0.91[ASN][1000 genomes]
rs1078926	0.91[ASN][1000 genomes]
rs11582627	0.92[ASN][1000 genomes]
rs12123933	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12136030	0.90[ASN][1000 genomes]
rs1327143	0.96[CHB][hapmap]
rs17574056	0.81[ASN][1000 genomes]
rs1887295	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2025808	0.97[ASN][1000 genomes]
rs2042556	0.85[ASN][1000 genomes]
rs59795179	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60072887	0.91[ASN][1000 genomes]
rs6684045	0.82[ASN][1000 genomes]
rs67878484	0.81[ASN][1000 genomes]
rs7527771	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7540770	0.96[CHB][hapmap]
rs997343	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1006655	chr1:183922288-184186677	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh 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	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184157000-184162000	Weak transcription	Right Ventricle	heart
2	chr1:184157000-184162200	Weak transcription	Left Ventricle	heart
3	chr1:184157800-184162400	Enhancers	Fetal Heart	heart
4	chr1:184158600-184160800	Enhancers	Fetal Brain Female	brain
5	chr1:184158600-184163200	Enhancers	Fetal Stomach	stomach
6	chr1:184159400-184160800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:184159400-184161400	Enhancers	Fetal Lung	lung
8	chr1:184159600-184160600	Enhancers	Brain Germinal Matrix	brain
9	chr1:184159600-184160600	Bivalent Enhancer	Fetal Intestine Large	intestine
10	chr1:184159600-184160600	Bivalent Enhancer	Fetal Intestine Small	intestine
11	chr1:184159600-184161600	Enhancers	Fetal Muscle Leg	muscle
12	chr1:184159800-184160600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr1:184159800-184160800	Enhancers	Fetal Brain Male	brain
14	chr1:184159800-184161400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:184160000-184160600	Bivalent Enhancer	Brain Hippocampus Middle	brain
16	chr1:184160000-184160600	Enhancers	Colon Smooth Muscle	Colon
17	chr1:184160000-184160600	Enhancers	NHDF-Ad	bronchial
18	chr1:184160000-184161000	Enhancers	Brain Substantia Nigra	brain
19	chr1:184160000-184161000	Enhancers	Rectal Smooth Muscle	rectum
20	chr1:184160000-184161200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:184160000-184161200	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr1:184160000-184161200	Enhancers	NHLF	lung
23	chr1:184160200-184160600	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr1:184160200-184160600	Enhancers	Fetal Muscle Trunk	muscle
25	chr1:184160200-184160600	Enhancers	Placenta	Placenta
26	chr1:184160200-184160600	Enhancers	Ovary	ovary
27	chr1:184160200-184160600	Enhancers	Stomach Smooth Muscle	stomach
28	chr1:184160200-184160600	Enhancers	HSMM	muscle
29	chr1:184160200-184160800	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr1:184160200-184160800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
31	chr1:184160200-184161000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:184160200-184161000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr1:184160200-184161000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:184160200-184161000	Enhancers	Fetal Kidney	kidney
35	chr1:184160200-184161000	Enhancers	HSMMtube	muscle
36	chr1:184160200-184161200	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr1:184160400-184160600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:184160400-184160600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr1:184160400-184160600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr1:184160400-184160600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr1:184160400-184160600	Bivalent Enhancer	Brain Angular Gyrus	brain
42	chr1:184160400-184160600	Flanking Active TSS	Brain Anterior Caudate	brain
43	chr1:184160400-184160600	Flanking Active TSS	Brain Cingulate Gyrus	brain
44	chr1:184160400-184160600	Flanking Bivalent TSS/Enh	Osteobl	bone

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