Variant report

Variant	rs12620901
Chromosome Location	chr2:182680781-182680782
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:182680132..182681845-chr2:182722990..182726056,3	MCF-7	breast:
2	chr2:182674283..182676270-chr2:182679368..182682318,3	MCF-7	breast:
3	chr2:182679351..182682085-chr2:182754696..182756887,2	MCF-7	breast:
4	chr2:182676782..182679506-chr2:182680066..182682576,2	K562	blood:
5	chr2:182674418..182676903-chr2:182677977..182680829,2	K562	blood:

Variant related genes	Relation type
ENSG00000138434	Chromatin interaction
ENSG00000260742	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10183937	0.83[CHB][hapmap];0.88[JPT][hapmap]
rs10803953	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs11891680	0.95[ASN][1000 genomes]
rs11898530	0.99[ASN][1000 genomes]
rs11902326	0.96[ASN][1000 genomes]
rs12612058	0.93[ASN][1000 genomes]
rs12618902	0.82[ASN][1000 genomes]
rs12622894	0.89[ASN][1000 genomes]
rs13387144	0.97[ASN][1000 genomes]
rs1427333	0.86[ASN][1000 genomes]
rs1528028	0.82[ASN][1000 genomes]
rs16867494	0.93[CHB][hapmap]
rs16867502	0.88[JPT][hapmap]
rs16867503	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs16867504	0.88[JPT][hapmap]
rs16867506	0.89[ASN][1000 genomes]
rs1991374	0.86[ASN][1000 genomes]
rs2303553	1.00[YRI][hapmap]
rs4018749	0.83[CHB][hapmap];0.88[JPT][hapmap]
rs4597474	0.86[CHB][hapmap]
rs57000426	0.99[ASN][1000 genomes]
rs57281910	0.82[ASN][1000 genomes]
rs57971040	0.95[ASN][1000 genomes]
rs59159077	0.82[ASN][1000 genomes]
rs59956987	0.99[ASN][1000 genomes]
rs60200067	0.82[ASN][1000 genomes]
rs61246630	0.99[ASN][1000 genomes]
rs6720578	0.97[ASN][1000 genomes]
rs7567399	0.97[ASN][1000 genomes]
rs7567560	0.97[ASN][1000 genomes]
rs7581484	0.97[ASN][1000 genomes]
rs7584725	0.97[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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182671200-182682600	Weak transcription	Fetal Stomach	stomach
2	chr2:182676200-182682600	Weak transcription	Colon Smooth Muscle	Colon
3	chr2:182676800-182681200	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr2:182676800-182682400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr2:182676800-182686400	Weak transcription	Pancreas	Pancrea
6	chr2:182677200-182683600	Weak transcription	Fetal Kidney	kidney
7	chr2:182677600-182683600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:182678600-182680800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:182679000-182681200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:182679200-182681200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:182679200-182681400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr2:182679200-182681800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:182679200-182681800	Weak transcription	NH-A	brain
14	chr2:182679400-182682400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:182679400-182683400	Weak transcription	HUVEC	blood vessel
16	chr2:182680200-182681200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr2:182680200-182681200	Weak transcription	Stomach Mucosa	stomach
18	chr2:182680200-182681200	Weak transcription	Hela-S3	cervix
19	chr2:182680200-182681400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr2:182680200-182681400	Weak transcription	HepG2	liver
21	chr2:182680200-182683600	Weak transcription	Fetal Lung	lung
22	chr2:182680400-182683800	Weak transcription	Placenta	Placenta
23	chr2:182680400-182683800	Weak transcription	Fetal Thymus	thymus

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