Variant report

Variant	rs2691492
Chromosome Location	chr6:71290505-71290506
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	chr6:71287440..71290712-chr6:71292784..71295822,3	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2691487	0.85[AMR][1000 genomes]
rs2691497	0.85[AMR][1000 genomes]
rs2842078	1.00[EUR][1000 genomes]
rs56210276	0.83[EUR][1000 genomes]
rs73746024	0.83[EUR][1000 genomes]
rs9446270	0.83[EUR][1000 genomes]
rs9455082	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932111	chr6:70736835-71633094	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1027049	chr6:70961610-71561488	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv524328	chr6:70961833-71558805	Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv917312	chr6:70961903-71601688	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv886145	chr6:71119524-71317480	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv886146	chr6:71219464-71317480	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv886147	chr6:71273253-71471863	Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:71277200-71290600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:71277200-71290600	Weak transcription	Brain Substantia Nigra	brain
3	chr6:71277200-71292000	Weak transcription	Small Intestine	intestine
4	chr6:71277200-71292400	Weak transcription	Colon Smooth Muscle	Colon
5	chr6:71277200-71294400	Weak transcription	HSMM	muscle
6	chr6:71277200-71296800	Weak transcription	Pancreas	Pancrea
7	chr6:71277200-71300200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr6:71277200-71303200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr6:71277200-71310600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:71277400-71290600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr6:71277400-71290600	Weak transcription	Fetal Intestine Small	intestine
12	chr6:71277400-71294200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr6:71277400-71294800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr6:71277400-71295000	Weak transcription	HUVEC	blood vessel
15	chr6:71277400-71299000	Weak transcription	NHDF-Ad	bronchial
16	chr6:71277400-71300600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr6:71277400-71301800	Weak transcription	HSMMtube	muscle
18	chr6:71277400-71302000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr6:71277400-71302200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr6:71277400-71302800	Weak transcription	Thymus	Thymus
21	chr6:71277600-71291000	Weak transcription	Fetal Thymus	thymus
22	chr6:71277800-71291200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr6:71277800-71291800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr6:71277800-71301800	Weak transcription	HepG2	liver
25	chr6:71277800-71301800	Weak transcription	NHEK	skin
26	chr6:71278000-71305200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr6:71278200-71291000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr6:71278200-71308800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr6:71278400-71294200	Weak transcription	HMEC	breast
30	chr6:71278400-71300800	Weak transcription	Fetal Kidney	kidney
31	chr6:71278600-71291000	Weak transcription	GM12878-XiMat	blood
32	chr6:71278600-71293600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr6:71278600-71308800	Weak transcription	Dnd41	blood
34	chr6:71278800-71298200	Weak transcription	K562	blood
35	chr6:71279800-71291200	Weak transcription	Fetal Brain Female	brain
36	chr6:71280200-71291800	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr6:71280400-71290600	Weak transcription	Fetal Stomach	stomach
38	chr6:71281800-71298400	Weak transcription	NHLF	lung
39	chr6:71285800-71292400	Weak transcription	Fetal Brain Male	brain
40	chr6:71286000-71291200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr6:71286000-71297400	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr6:71286000-71303200	Weak transcription	Psoas Muscle	Psoas
43	chr6:71286000-71304800	Weak transcription	Gastric	stomach
44	chr6:71286200-71310600	Weak transcription	Right Ventricle	heart
45	chr6:71286800-71293400	Weak transcription	Aorta	Aorta
46	chr6:71286800-71301600	Weak transcription	Lung	lung
47	chr6:71287000-71295000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr6:71287200-71291000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr6:71287400-71296600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr6:71287800-71290600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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