Variant report

Variant	rs12634296
Chromosome Location	chr3:112501763-112501764
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:112490402..112493050-chr3:112499007..112501789,2	K562	blood:
2	chr3:112491625..112493260-chr3:112500816..112503806,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12633641	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12636634	0.85[AFR][1000 genomes]
rs16860025	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16860034	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2036938	0.97[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2087286	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4682425	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4682427	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4682428	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7611048	1.00[ASN][1000 genomes]
rs7648520	1.00[ASN][1000 genomes]
rs7650843	0.88[AMR][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	esv3329419	chr3:112236688-112620544	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv432477	chr3:112390310-112603310	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3431441	chr3:112453467-113213252	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv877343	chr3:112470586-112597706	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112492200-112502000	Enhancers	NHEK	skin
2	chr3:112495200-112512600	Weak transcription	Spleen	Spleen
3	chr3:112498800-112502000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:112498800-112502000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr3:112499600-112504200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr3:112500000-112501800	Enhancers	A549	lung
7	chr3:112500200-112504400	Weak transcription	K562	blood
8	chr3:112500400-112502800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr3:112500600-112504600	Weak transcription	HSMMtube	muscle
10	chr3:112500600-112504800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr3:112500800-112504600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr3:112500800-112504800	Weak transcription	Stomach Mucosa	stomach
13	chr3:112501000-112502000	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr3:112501000-112504600	Weak transcription	HSMM	muscle
15	chr3:112501000-112505200	Weak transcription	NH-A	brain
16	chr3:112501200-112501800	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr3:112501200-112501800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr3:112501200-112504200	Weak transcription	NHLF	lung
19	chr3:112501200-112504800	Weak transcription	Osteobl	bone
20	chr3:112501200-112505200	Weak transcription	NHDF-Ad	bronchial
21	chr3:112501400-112501800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr3:112501400-112502000	Enhancers	Placenta Amnion	Placenta Amnion
23	chr3:112501400-112502600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr3:112501400-112503000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr3:112501600-112501800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr3:112501600-112502000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr3:112501600-112504800	Weak transcription	Placenta	Placenta
28	chr3:112501600-112505000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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