Variant report

Variant	rs11538929
Chromosome Location	chr8:120431506-120431507
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:120426975..120428854-chr8:120430579..120432749,2	K562	blood:

Variant related genes	Relation type
ENSG00000136999	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11993820	1.00[CEU][hapmap];0.85[TSI][hapmap]
rs4305931	0.81[EUR][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	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1026655	chr8:120282929-120522329	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120429400-120431600	Weak transcription	Lung	lung
2	chr8:120429400-120435200	Weak transcription	Pancreas	Pancrea
3	chr8:120429600-120432000	Weak transcription	Fetal Lung	lung
4	chr8:120429600-120432200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr8:120429600-120435200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:120429600-120436800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:120429600-120437200	Weak transcription	NHLF	lung
8	chr8:120429800-120431600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr8:120429800-120433000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr8:120429800-120435200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:120429800-120436800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr8:120429800-120437000	Weak transcription	Fetal Stomach	stomach
13	chr8:120429800-120437400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:120430000-120432800	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr8:120430600-120431600	Genic enhancers	Fetal Muscle Trunk	muscle
16	chr8:120430600-120437800	Weak transcription	Hela-S3	cervix
17	chr8:120430800-120433000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:120431000-120432000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr8:120431000-120439600	Weak transcription	NHDF-Ad	bronchial
20	chr8:120431200-120431600	Transcr. at gene 5' and 3'	Aorta	Aorta
21	chr8:120431400-120431600	Enhancers	Left Ventricle	heart
22	chr8:120431400-120431800	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr8:120431400-120432000	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
24	chr8:120431400-120432000	Weak transcription	Gastric	stomach

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