Variant report

Variant	rs11991309
Chromosome Location	chr8:68516395-68516396
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11995823	1.00[LWK][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752263	chr8:68170946-68788493	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1024135	chr8:68235792-68629789	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv539642	chr8:68235792-68629789	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv2752264	chr8:68244546-68647201	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1032986	chr8:68468044-68789883	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:68514200-68517200	Enhancers	Primary hematopoietic stem cells	blood
2	chr8:68514400-68516400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr8:68514400-68520600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr8:68514600-68516400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr8:68514600-68516400	Enhancers	GM12878-XiMat	blood
6	chr8:68514600-68516600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr8:68514800-68516400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:68515000-68517200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr8:68515200-68516800	Weak transcription	Small Intestine	intestine
10	chr8:68515200-68517000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr8:68515200-68519200	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr8:68515400-68516600	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr8:68515400-68516800	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr8:68515400-68517000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:68516000-68516400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:68516000-68516400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr8:68516200-68516400	Enhancers	Duodenum Mucosa	Duodenum
18	chr8:68516200-68516400	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr8:68516200-68517000	Enhancers	Rectal Smooth Muscle	rectum
20	chr8:68516200-68539400	Weak transcription	Rectal Mucosa Donor 31	rectum

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