Variant report

Variant	rs12271056
Chromosome Location	chr11:76349466-76349467
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	chr11:76345106..76346944-chr11:76348405..76350238,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs7104337	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7126722	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7930682	0.84[ASN][1000 genomes]
rs7947915	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043912	chr11:76301316-76439095	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1039451	chr11:76301316-76440221	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv1810781	chr11:76311021-76464814	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76341600-76353000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:76346000-76349600	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr11:76346000-76349800	Enhancers	Left Ventricle	heart
4	chr11:76346000-76350800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr11:76346200-76349800	Enhancers	Placenta	Placenta
6	chr11:76346400-76350200	Enhancers	Lung	lung
7	chr11:76346600-76350800	Enhancers	Primary B cells from peripheral blood	blood
8	chr11:76346800-76349800	Enhancers	Spleen	Spleen
9	chr11:76346800-76352000	Enhancers	Primary B cells from cord blood	blood
10	chr11:76347000-76349800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr11:76347200-76349800	Enhancers	Adipose Nuclei	Adipose
12	chr11:76347600-76349600	Enhancers	HUVEC	blood vessel
13	chr11:76347600-76349800	Enhancers	Right Atrium	heart
14	chr11:76347600-76350000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr11:76347800-76349800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr11:76348200-76350000	Enhancers	Primary hematopoietic stem cells	blood
17	chr11:76348600-76349600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr11:76348600-76349600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr11:76348600-76349600	Weak transcription	K562	blood
20	chr11:76348800-76350200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr11:76349000-76349600	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr11:76349000-76353000	Weak transcription	Right Ventricle	heart
23	chr11:76349200-76349600	Enhancers	GM12878-XiMat	blood
24	chr11:76349200-76350600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr11:76349400-76349600	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr11:76349400-76350400	Enhancers	Gastric	stomach

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