Variant report

Variant	rs12613586
Chromosome Location	chr2:112948954-112948955
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:112947735..112949469-chr2:112950184..112952276,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12711736	0.92[AFR][1000 genomes]
rs4848281	0.93[AFR][1000 genomes]
rs4849051	0.93[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874863	chr2:112591224-113157344	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv874864	chr2:112617280-113104142	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv874865	chr2:112623098-113049274	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	esv3422414	chr2:112883450-113200285	Strong transcription Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv874866	chr2:112906599-112991098	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv582703	chr2:112920219-113100014	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	nsv874867	chr2:112930064-113038409	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112914600-112972800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:112943200-112952200	Weak transcription	Fetal Lung	lung
3	chr2:112945200-112970600	Weak transcription	Fetal Stomach	stomach
4	chr2:112945800-112951600	Weak transcription	Fetal Muscle Leg	muscle
5	chr2:112946400-112951800	Weak transcription	K562	blood
6	chr2:112946400-112953800	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr2:112946600-112950800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr2:112946800-112950600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr2:112946800-112951000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr2:112946800-112952200	Enhancers	Primary T cells from cord blood	blood
11	chr2:112947000-112949200	Weak transcription	HUVEC	blood vessel
12	chr2:112947000-112951600	Weak transcription	Fetal Thymus	thymus
13	chr2:112947000-112951600	Weak transcription	Thymus	Thymus
14	chr2:112947200-112951800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr2:112948200-112949200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr2:112948200-112953800	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr2:112948400-112949200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr2:112948400-112949400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr2:112948600-112949000	Enhancers	Primary T cells fromperipheralblood	blood
20	chr2:112948600-112949600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr2:112948600-112949800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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