Variant report

Variant	rs2710651
Chromosome Location	chr2:63166379-63166380
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:63166022-63166379	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:63164960..63167848-chr2:63174412..63177357,2	K562	blood:

Variant related genes	Relation type
ENSG00000237162	TF binding region
EHBP1	TF binding region
ENSG00000115504	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs13410889	0.87[ASN][1000 genomes]
rs1468748	0.86[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs17027429	0.81[AFR][1000 genomes]
rs2430386	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2539978	0.83[ASN][1000 genomes]
rs2539981	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2539982	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2539984	0.85[ASN][1000 genomes]
rs2539990	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2710637	0.84[ASN][1000 genomes]
rs2710639	0.81[ASN][1000 genomes]
rs2710640	0.80[AFR][1000 genomes]
rs2710647	0.83[EUR][1000 genomes]
rs6545971	0.82[AFR][1000 genomes]
rs7591708	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv535767	chr2:62461582-63413596	Bivalent Enhancer Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv3417336	chr2:62957866-63749654	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv428041	chr2:63027947-63206574	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1006848	chr2:63061816-63631407	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	esv2756598	chr2:63085848-63491438	Strong transcription Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	esv3340700	chr2:63127412-63534998	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63122800-63166600	Weak transcription	HMEC	breast
2	chr2:63142400-63190800	Weak transcription	Brain Angular Gyrus	brain
3	chr2:63150600-63176000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr2:63151200-63166800	Weak transcription	NHEK	skin
5	chr2:63151200-63167200	Weak transcription	HSMM	muscle
6	chr2:63151200-63171200	Weak transcription	Ovary	ovary
7	chr2:63151200-63175600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr2:63151200-63182800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr2:63151400-63166400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:63151400-63166600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:63151400-63166800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:63151400-63169600	Weak transcription	A549	lung
13	chr2:63151400-63171400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:63151400-63194200	Weak transcription	Esophagus	oesophagus
15	chr2:63151400-63194200	Weak transcription	Fetal Brain Male	brain
16	chr2:63151400-63200800	Weak transcription	Fetal Stomach	stomach
17	chr2:63151400-63208800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr2:63151400-63272200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:63152200-63169200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr2:63152200-63175600	Weak transcription	Primary T cells from cord blood	blood
21	chr2:63154400-63209000	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr2:63155400-63209000	Weak transcription	Psoas Muscle	Psoas
23	chr2:63157400-63175600	Weak transcription	Left Ventricle	heart
24	chr2:63157400-63188800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:63157400-63207400	Weak transcription	Pancreas	Pancrea
26	chr2:63160200-63190000	Weak transcription	Primary B cells from cord blood	blood
27	chr2:63161800-63171200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr2:63161800-63184400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr2:63162000-63166800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:63162000-63166800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:63162000-63196800	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr2:63162000-63199800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr2:63163000-63170800	Weak transcription	Stomach Smooth Muscle	stomach
34	chr2:63163200-63167200	Weak transcription	NHLF	lung
35	chr2:63163600-63167800	Strong transcription	HepG2	liver
36	chr2:63164800-63167200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr2:63164800-63167400	Enhancers	NH-A	brain
38	chr2:63165000-63167600	Enhancers	HSMMtube	muscle
39	chr2:63165000-63171600	Weak transcription	Primary hematopoietic stem cells	blood
40	chr2:63165200-63209200	Weak transcription	Aorta	Aorta
41	chr2:63165600-63166800	Weak transcription	Osteobl	bone
42	chr2:63165800-63166800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:63165800-63166800	Weak transcription	NHDF-Ad	bronchial
44	chr2:63165800-63167200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr2:63166000-63167400	Strong transcription	Liver	Liver
46	chr2:63166200-63167800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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