Variant report

Variant	rs947997
Chromosome Location	chr11:76333899-76333900
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	chr11:76331643..76333160-chr11:76333362..76334961,2	K562	blood:

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs7124842	0.92[AMR][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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76327400-76334200	Weak transcription	Esophagus	oesophagus
2	chr11:76328600-76340400	Weak transcription	Right Atrium	heart
3	chr11:76329400-76336600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr11:76331800-76335000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr11:76331800-76335000	Enhancers	Osteobl	bone
6	chr11:76331800-76335200	Enhancers	NHDF-Ad	bronchial
7	chr11:76331800-76335200	Enhancers	NHLF	lung
8	chr11:76332000-76335000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr11:76332000-76340400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr11:76332200-76336400	Enhancers	Fetal Stomach	stomach
11	chr11:76332400-76335200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr11:76332400-76336200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr11:76332400-76336200	Enhancers	Placenta	Placenta
14	chr11:76332600-76335000	Enhancers	Fetal Muscle Trunk	muscle
15	chr11:76332600-76335000	Enhancers	Fetal Muscle Leg	muscle
16	chr11:76332600-76335600	Enhancers	Spleen	Spleen
17	chr11:76332600-76336400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr11:76332600-76336600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:76332600-76336600	Enhancers	Fetal Heart	heart
20	chr11:76332800-76334600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr11:76332800-76336000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr11:76333200-76334600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr11:76333200-76334600	Weak transcription	Lung	lung
24	chr11:76333400-76334000	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr11:76333400-76334200	Enhancers	Stomach Smooth Muscle	stomach
26	chr11:76333400-76334400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr11:76333400-76340200	Weak transcription	Ovary	ovary
28	chr11:76333600-76334000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr11:76333600-76334400	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr11:76333600-76335400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr11:76333800-76334000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr11:76333800-76334000	Enhancers	Right Ventricle	heart
33	chr11:76333800-76334200	Weak transcription	NH-A	brain

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