Variant report

Variant	rs57971040
Chromosome Location	chr2:182656582-182656583
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:182653773..182656641-chr2:182670969..182672673,2	K562	blood:
2	chr2:182647541..182657734-chr2:182753295..182760748,23	MCF-7	breast:
3	chr2:182655375..182656915-chr2:182750868..182752797,2	MCF-7	breast:
4	chr2:182655124..182657474-chr2:182657876..182660662,2	K562	blood:
5	chr2:182653727..182657745-chr2:182674412..182677081,4	MCF-7	breast:
6	chr2:182646086..182659083-chr2:182754079..182762654,36	MCF-7	breast:
7	chr2:182655212..182656838-chr2:182740097..182741979,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138434	Chromatin interaction
ENSG00000260742	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10497586	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11891680	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11898530	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11902326	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12612058	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12618902	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12620901	0.95[ASN][1000 genomes]
rs12622894	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13387144	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1427333	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1528028	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs16867496	0.91[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs16867503	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16867506	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1991374	0.84[ASN][1000 genomes]
rs4597474	0.82[ASN][1000 genomes]
rs57000426	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57281910	0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs59159077	0.87[ASN][1000 genomes]
rs59956987	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60200067	0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs61246630	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6720578	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7567399	0.98[ASN][1000 genomes]
rs7567560	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7581484	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7584725	0.94[EUR][1000 genomes];0.98[ASN][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	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1001558	chr2:182590009-182732738	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv834478	chr2:182654811-182843201	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182642200-182657200	Enhancers	Hela-S3	cervix
2	chr2:182648000-182657200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:182648600-182657200	Enhancers	HMEC	breast
4	chr2:182648800-182657000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:182649600-182657200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:182650200-182657000	Enhancers	Fetal Intestine Large	intestine
7	chr2:182651200-182656800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr2:182651200-182657000	Enhancers	Primary hematopoietic stem cells	blood
9	chr2:182651200-182657200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:182652200-182657400	Enhancers	HUVEC	blood vessel
11	chr2:182652400-182657200	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr2:182653400-182657400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:182653600-182657200	Enhancers	NH-A	brain
14	chr2:182653600-182657200	Enhancers	NHDF-Ad	bronchial
15	chr2:182653600-182657200	Enhancers	NHLF	lung
16	chr2:182653600-182657400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:182653800-182656800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:182654200-182657200	Enhancers	Stomach Mucosa	stomach
19	chr2:182654600-182657000	Enhancers	Fetal Thymus	thymus
20	chr2:182654800-182656800	Flanking Active TSS	A549	lung
21	chr2:182654800-182657000	Enhancers	Fetal Intestine Small	intestine
22	chr2:182654800-182657200	Enhancers	HSMM	muscle
23	chr2:182655600-182656600	Enhancers	HSMMtube	muscle
24	chr2:182655800-182656800	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr2:182655800-182657000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:182656000-182657000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:182656000-182657000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:182656000-182657200	Enhancers	NHEK	skin
29	chr2:182656200-182656600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:182656200-182656600	Enhancers	Dnd41	blood
31	chr2:182656200-182656800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:182656400-182656600	Flanking Active TSS	Osteobl	bone
33	chr2:182656400-182656800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
34	chr2:182656400-182657200	Enhancers	HepG2	liver
35	chr2:182656400-182658600	Weak transcription	Thymus	Thymus

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