Variant report

Variant	rs62133325
Chromosome Location	chr2:37687953-37687954
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:37682465..37684139-chr2:37686739..37688333,2	K562	blood:
2	chr2:37674288..37676337-chr2:37685737..37688675,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs2888498	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4670204	0.95[EUR][1000 genomes]
rs56093982	0.83[EUR][1000 genomes]
rs58141632	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59627342	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62133321	0.95[EUR][1000 genomes]
rs62133324	0.95[EUR][1000 genomes]
rs62133327	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62133329	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62133331	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72792882	0.95[EUR][1000 genomes]
rs888098	0.93[EUR][1000 genomes]
rs888099	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833814	chr2:37643132-37840247	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv456374	chr2:37669487-37868214	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv470453	chr2:37669487-37868214	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv581473	chr2:37669487-37868214	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37677800-37695400	Weak transcription	Aorta	Aorta
2	chr2:37682000-37688400	Enhancers	Fetal Heart	heart
3	chr2:37682800-37688000	Enhancers	HUVEC	blood vessel
4	chr2:37683400-37688400	Enhancers	HSMM	muscle
5	chr2:37683600-37688600	Enhancers	NHDF-Ad	bronchial
6	chr2:37683800-37688600	Enhancers	NHLF	lung
7	chr2:37684000-37688200	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr2:37684000-37691200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:37684200-37688600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr2:37684400-37688600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr2:37684800-37688600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:37685200-37688400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:37685200-37688400	Weak transcription	K562	blood
14	chr2:37685200-37688600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:37685200-37688600	Enhancers	Osteobl	bone
16	chr2:37685400-37688400	Enhancers	Primary T cells fromperipheralblood	blood
17	chr2:37685400-37688400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr2:37685400-37688600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:37685800-37688000	Enhancers	HSMMtube	muscle
20	chr2:37685800-37688000	Enhancers	NHEK	skin
21	chr2:37685800-37688400	Enhancers	Rectal Smooth Muscle	rectum
22	chr2:37685800-37688800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:37685800-37688800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr2:37686000-37688000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr2:37686000-37688600	Enhancers	Fetal Stomach	stomach
26	chr2:37686000-37688800	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr2:37686000-37688800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr2:37686200-37688400	Weak transcription	Small Intestine	intestine
29	chr2:37686200-37688600	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr2:37686200-37688600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr2:37686200-37688600	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr2:37686200-37688600	Enhancers	Colon Smooth Muscle	Colon
33	chr2:37686400-37688200	Enhancers	Fetal Lung	lung
34	chr2:37686400-37688600	Enhancers	Fetal Kidney	kidney
35	chr2:37686600-37688200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr2:37686600-37688200	Enhancers	Stomach Smooth Muscle	stomach
37	chr2:37686600-37688400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr2:37686600-37688400	Enhancers	Hela-S3	cervix
39	chr2:37686600-37688600	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr2:37686800-37688000	Enhancers	Stomach Mucosa	stomach
41	chr2:37687200-37688000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr2:37687200-37688000	Enhancers	Adipose Nuclei	Adipose
43	chr2:37687200-37688000	Enhancers	Fetal Thymus	thymus
44	chr2:37687200-37688000	Enhancers	Ovary	ovary
45	chr2:37687200-37688000	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr2:37687200-37688400	Enhancers	Muscle Satellite Cultured Cells	--
47	chr2:37687200-37688400	Enhancers	Right Atrium	heart
48	chr2:37687200-37688600	Enhancers	Fetal Intestine Large	intestine
49	chr2:37687600-37688000	Enhancers	Esophagus	oesophagus
50	chr2:37687600-37688000	Enhancers	Right Ventricle	heart

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