Variant report

Variant	rs71514723
Chromosome Location	chr8:121816194-121816195
allele	C/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:2)

rs_ID	r²[population]
rs34385297	1.00[AFR][1000 genomes]
rs34392458	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016172	chr8:121679590-121929916	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv891422	chr8:121680857-121819478	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2757289	chr8:121765701-121828919	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2759640	chr8:121765701-121828919	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121798600-121819400	Weak transcription	Fetal Stomach	stomach
2	chr8:121799000-121820800	Weak transcription	Aorta	Aorta
3	chr8:121799200-121819600	Weak transcription	Lung	lung
4	chr8:121799400-121820800	Weak transcription	Fetal Intestine Small	intestine
5	chr8:121801600-121820400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:121802000-121816400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr8:121804800-121820800	Weak transcription	Fetal Intestine Large	intestine
8	chr8:121805600-121821200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr8:121805800-121816600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr8:121806600-121816200	Weak transcription	Fetal Kidney	kidney
11	chr8:121806800-121819800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:121808200-121820600	Weak transcription	HSMM	muscle
13	chr8:121809000-121820400	Weak transcription	NHLF	lung
14	chr8:121809000-121820600	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr8:121810400-121816600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:121811400-121818200	Weak transcription	Gastric	stomach
17	chr8:121811400-121820800	Weak transcription	Left Ventricle	heart
18	chr8:121812800-121817600	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr8:121813000-121820600	Weak transcription	Adipose Nuclei	Adipose
20	chr8:121813600-121817400	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr8:121813600-121820600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr8:121813800-121817400	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr8:121814000-121816800	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr8:121814200-121817400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr8:121814400-121817200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr8:121814400-121817200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr8:121814600-121816800	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr8:121814600-121817200	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr8:121814600-121820400	Genic enhancers	HepG2	liver
30	chr8:121814600-121820600	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr8:121814800-121816200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr8:121814800-121816600	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr8:121814800-121816600	Weak transcription	Pancreas	Pancrea
34	chr8:121814800-121817200	Enhancers	Primary hematopoietic stem cells	blood
35	chr8:121815000-121816800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr8:121815000-121817000	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr8:121815000-121817200	Enhancers	Primary B cells from cord blood	blood
38	chr8:121815000-121819800	Enhancers	Liver	Liver
39	chr8:121815000-121822800	Weak transcription	Small Intestine	intestine
40	chr8:121815200-121817000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr8:121815200-121818400	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr8:121815400-121816200	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr8:121815400-121816200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr8:121815400-121816800	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr8:121815400-121817200	Enhancers	Primary B cells from peripheral blood	blood
46	chr8:121815400-121817200	Enhancers	HSMMtube	muscle
47	chr8:121815400-121820400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr8:121815600-121816200	Genic enhancers	Primary T cells from cord blood	blood
49	chr8:121815600-121817000	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr8:121815600-121820800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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