Variant report

Variant	rs9497751
Chromosome Location	chr6:147658192-147658193
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:147628703..147630384-chr6:147656186..147658681,2	K562	blood:
2	chr6:147656651..147659258-chr6:147668248..147670413,2	K562	blood:
3	chr6:147644229..147646379-chr6:147656668..147659345,2	K562	blood:
4	chr6:147649628..147652559-chr6:147657178..147658972,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10440889	0.82[AFR][1000 genomes]
rs60712264	1.00[AFR][1000 genomes]
rs6926790	0.82[AFR][1000 genomes]
rs6927420	0.94[AFR][1000 genomes]
rs6932818	0.89[AFR][1000 genomes]
rs9485152	0.88[AFR][1000 genomes]
rs9485154	0.94[AFR][1000 genomes]
rs9485162	0.82[AFR][1000 genomes]
rs9497700	0.88[AFR][1000 genomes]
rs9497701	0.88[AFR][1000 genomes]
rs9497721	0.88[AFR][1000 genomes]
rs9497722	0.88[AFR][1000 genomes]
rs9497726	0.88[AFR][1000 genomes]
rs9497728	0.94[AFR][1000 genomes]
rs9497730	0.82[AFR][1000 genomes]
rs9497731	0.94[AFR][1000 genomes]
rs9497734	0.94[AFR][1000 genomes]
rs9497741	0.94[AFR][1000 genomes]
rs9497743	0.88[AFR][1000 genomes]
rs9497754	1.00[AFR][1000 genomes]
rs9497765	0.94[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886752	chr6:147443480-147729477	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv886753	chr6:147526508-147680291	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv470864	chr6:147539165-147709179	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv886754	chr6:147539165-147729477	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv604840	chr6:147539165-147730324	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	esv1832155	chr6:147554900-147715464	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv886755	chr6:147577646-147729477	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
8	nsv886756	chr6:147580697-147729477	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
9	nsv830839	chr6:147584914-147757264	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
10	nsv886757	chr6:147591022-147729477	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
11	nsv886758	chr6:147644505-147679631	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147584400-147684600	Weak transcription	Brain Angular Gyrus	brain
2	chr6:147607400-147707400	Weak transcription	Colon Smooth Muscle	Colon
3	chr6:147609800-147667000	Weak transcription	NHEK	skin
4	chr6:147610200-147700200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr6:147617400-147680200	Weak transcription	Small Intestine	intestine
6	chr6:147619200-147690200	Weak transcription	Fetal Heart	heart
7	chr6:147622600-147708200	Weak transcription	Psoas Muscle	Psoas
8	chr6:147625800-147664600	Weak transcription	Spleen	Spleen
9	chr6:147625800-147667400	Weak transcription	Gastric	stomach
10	chr6:147626000-147687000	Weak transcription	Lung	lung
11	chr6:147626000-147700200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr6:147626200-147662600	Weak transcription	Pancreas	Pancrea
13	chr6:147626200-147670200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr6:147626200-147684000	Weak transcription	Brain Hippocampus Middle	brain
15	chr6:147626200-147684000	Weak transcription	Fetal Muscle Trunk	muscle
16	chr6:147626200-147687200	Weak transcription	Fetal Muscle Leg	muscle
17	chr6:147626200-147707600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr6:147626400-147700000	Weak transcription	Brain Germinal Matrix	brain
19	chr6:147628000-147668000	Weak transcription	Aorta	Aorta
20	chr6:147628200-147687000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr6:147631400-147707200	Weak transcription	Hela-S3	cervix
22	chr6:147633800-147684400	Weak transcription	Ovary	ovary
23	chr6:147637000-147686800	Weak transcription	A549	lung
24	chr6:147640000-147664400	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr6:147642800-147705000	Weak transcription	HepG2	liver
26	chr6:147643600-147667000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr6:147643800-147680200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr6:147643800-147680200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr6:147643800-147680200	Weak transcription	Thymus	Thymus
30	chr6:147643800-147686800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr6:147644000-147669200	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr6:147644200-147704000	Weak transcription	GM12878-XiMat	blood
33	chr6:147644400-147679200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr6:147644400-147686600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr6:147644600-147684400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr6:147644800-147663600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr6:147644800-147683600	Weak transcription	Fetal Brain Female	brain
38	chr6:147645200-147682000	Weak transcription	HMEC	breast
39	chr6:147645200-147715000	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr6:147645800-147685000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr6:147649000-147687200	Weak transcription	Right Ventricle	heart
42	chr6:147649000-147705000	Weak transcription	Fetal Brain Male	brain
43	chr6:147649600-147662400	Weak transcription	Left Ventricle	heart
44	chr6:147649600-147679800	Weak transcription	Rectal Smooth Muscle	rectum
45	chr6:147649600-147680200	Weak transcription	Fetal Intestine Small	intestine
46	chr6:147649600-147680200	Weak transcription	NHLF	lung
47	chr6:147649600-147684000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr6:147649600-147685200	Weak transcription	Fetal Lung	lung
49	chr6:147649600-147703800	Weak transcription	Fetal Stomach	stomach
50	chr6:147649600-147706000	Weak transcription	Fetal Kidney	kidney

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