Variant report

Variant	rs60412958
Chromosome Location	chr6:147562413-147562414
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	chr6:147562403..147564458-chr6:147565957..147567500,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10080610	0.81[AFR][1000 genomes]
rs17076672	0.95[AFR][1000 genomes]
rs17076679	0.86[AFR][1000 genomes]
rs17076691	0.86[AFR][1000 genomes]
rs17076702	0.88[AFR][1000 genomes]
rs34181841	0.88[AFR][1000 genomes]
rs55691000	0.95[AFR][1000 genomes]
rs55758181	1.00[AFR][1000 genomes]
rs57629542	0.85[AFR][1000 genomes]
rs57867594	0.85[AFR][1000 genomes]
rs58570586	0.90[AFR][1000 genomes]
rs58638359	0.83[AFR][1000 genomes]
rs58831496	0.95[AFR][1000 genomes]
rs59575940	0.85[AFR][1000 genomes]
rs60225993	0.86[AFR][1000 genomes]
rs60969570	0.95[AFR][1000 genomes]
rs61078293	0.88[AFR][1000 genomes]
rs73787171	0.83[AFR][1000 genomes]
rs73787179	0.81[AFR][1000 genomes]
rs73788818	0.90[AFR][1000 genomes]
rs73788820	0.90[AFR][1000 genomes]
rs73788821	0.90[AFR][1000 genomes]
rs73788836	0.95[AFR][1000 genomes]
rs73788839	0.95[AFR][1000 genomes]
rs73788842	0.95[AFR][1000 genomes]
rs73788844	0.95[AFR][1000 genomes]
rs9322096	0.86[AFR][1000 genomes]
rs9322097	0.88[AFR][1000 genomes]
rs9322098	0.83[AFR][1000 genomes]
rs9485157	0.90[AFR][1000 genomes]
rs9485158	0.86[AFR][1000 genomes]
rs9485160	0.86[AFR][1000 genomes]
rs9485161	0.86[AFR][1000 genomes]
rs9485163	0.86[AFR][1000 genomes]
rs9485168	0.88[AFR][1000 genomes]
rs9485169	0.88[AFR][1000 genomes]
rs9497727	1.00[AFR][1000 genomes]
rs9497733	0.86[AFR][1000 genomes]
rs9497735	0.86[AFR][1000 genomes]
rs9497737	0.86[AFR][1000 genomes]
rs9497739	0.86[AFR][1000 genomes]
rs9497742	0.86[AFR][1000 genomes]
rs9497744	0.86[AFR][1000 genomes]
rs9497745	0.88[AFR][1000 genomes]
rs9497746	0.90[AFR][1000 genomes]
rs9497749	0.90[AFR][1000 genomes]
rs9497750	0.90[AFR][1000 genomes]
rs9497755	0.88[AFR][1000 genomes]
rs9497756	0.88[AFR][1000 genomes]
rs9497758	0.81[AFR][1000 genomes]
rs9497760	0.88[AFR][1000 genomes]
rs9885707	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019245	chr6:147350834-147609776	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv538467	chr6:147350834-147609776	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	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

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147526000-147572200	Weak transcription	Lung	lung
2	chr6:147527200-147570000	Weak transcription	Left Ventricle	heart
3	chr6:147527200-147572000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:147527200-147572200	Weak transcription	Esophagus	oesophagus
5	chr6:147527400-147563800	Weak transcription	NH-A	brain
6	chr6:147527400-147566800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr6:147527400-147576400	Weak transcription	HSMMtube	muscle
8	chr6:147527800-147586800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr6:147528800-147565800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr6:147528800-147572000	Weak transcription	A549	lung
11	chr6:147529000-147572200	Weak transcription	Aorta	Aorta
12	chr6:147529400-147571800	Weak transcription	Fetal Brain Male	brain
13	chr6:147530000-147572000	Weak transcription	NHEK	skin
14	chr6:147533200-147572200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr6:147534000-147572200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr6:147537600-147572200	Weak transcription	Ovary	ovary
17	chr6:147537800-147571600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr6:147538200-147572200	Weak transcription	Spleen	Spleen
19	chr6:147538400-147572200	Weak transcription	Fetal Lung	lung
20	chr6:147538800-147572200	Weak transcription	Placenta	Placenta
21	chr6:147540200-147569600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr6:147540200-147572000	Weak transcription	Thymus	Thymus
23	chr6:147542400-147590800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr6:147543800-147562600	Weak transcription	Brain Hippocampus Middle	brain
25	chr6:147543800-147563600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr6:147543800-147566200	Weak transcription	Stomach Mucosa	stomach
27	chr6:147543800-147572200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr6:147543800-147588800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr6:147544000-147572200	Weak transcription	GM12878-XiMat	blood
30	chr6:147544200-147566800	Weak transcription	Pancreas	Pancrea
31	chr6:147544200-147574200	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr6:147544400-147574800	Weak transcription	HepG2	liver
33	chr6:147545600-147571600	Weak transcription	Fetal Muscle Leg	muscle
34	chr6:147545600-147617000	Weak transcription	Small Intestine	intestine
35	chr6:147549200-147566200	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr6:147549200-147572200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr6:147549400-147616800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr6:147549600-147572200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr6:147549600-147578200	Weak transcription	Fetal Heart	heart
40	chr6:147549600-147584600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr6:147549600-147587200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr6:147549800-147566600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr6:147550400-147566000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr6:147552600-147591800	Weak transcription	HUVEC	blood vessel
45	chr6:147553600-147566800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr6:147554600-147590000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr6:147556200-147564600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr6:147556200-147574600	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr6:147556400-147564400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr6:147556400-147564600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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