Variant report

Variant	rs61045375
Chromosome Location	chr6:166978874-166978875
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:166975267..166978295-chr6:166978843..166980508,3	K562	blood:
2	chr6:166974194..166976909-chr6:166977553..166980494,3	K562	blood:
3	chr6:166964236..166966556-chr6:166978667..166980857,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11963778	0.89[AMR][1000 genomes]
rs11964118	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11969154	1.00[AMR][1000 genomes]
rs11969174	1.00[AMR][1000 genomes]
rs11969176	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11970618	0.89[AMR][1000 genomes]
rs16899123	0.89[AMR][1000 genomes]
rs16899126	1.00[AMR][1000 genomes]
rs16899129	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16899150	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16899151	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16899157	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57647994	1.00[AMR][1000 genomes]
rs59061765	0.89[AMR][1000 genomes]
rs60005152	1.00[AMR][1000 genomes]
rs73255201	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73257211	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73257221	1.00[AMR][1000 genomes]
rs73257223	1.00[AMR][1000 genomes]
rs73257240	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73257242	0.89[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	esv3490076	chr6:166727901-167306743	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
2	esv3490077	chr6:166727901-167306743	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
3	nsv886941	chr6:166907173-166996991	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv5592	chr6:166958317-167002951	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1029530	chr6:166977678-167016052	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:166968400-166985800	Weak transcription	Fetal Kidney	kidney
2	chr6:166970800-166979800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr6:166970800-166986200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:166971000-166986000	Weak transcription	Pancreas	Pancrea
5	chr6:166971400-166980200	Weak transcription	Brain Anterior Caudate	brain
6	chr6:166972200-166979600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr6:166972200-166986000	Weak transcription	Gastric	stomach
8	chr6:166972400-166979200	Weak transcription	NHEK	skin
9	chr6:166973000-166979200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:166973400-166984600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:166973800-166979000	Weak transcription	HMEC	breast
12	chr6:166973800-166979200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr6:166973800-166986000	Weak transcription	Fetal Intestine Small	intestine
14	chr6:166974000-166979400	Weak transcription	Brain Substantia Nigra	brain
15	chr6:166974000-166989600	Weak transcription	Primary T cells from cord blood	blood
16	chr6:166974200-166981600	Enhancers	Fetal Muscle Leg	muscle
17	chr6:166974400-166992400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr6:166974600-166979000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr6:166974600-166979400	Genic enhancers	Fetal Stomach	stomach
20	chr6:166974600-166981000	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr6:166974800-166986000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr6:166975000-166979200	Weak transcription	Brain Angular Gyrus	brain
23	chr6:166975600-166979400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr6:166975600-166981600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr6:166975800-166979000	Weak transcription	Brain Cingulate Gyrus	brain
26	chr6:166975800-166979600	Weak transcription	HSMM	muscle
27	chr6:166975800-166980000	Weak transcription	Osteobl	bone
28	chr6:166976000-166979000	Weak transcription	HSMMtube	muscle
29	chr6:166976200-166981600	Enhancers	Fetal Muscle Trunk	muscle
30	chr6:166976400-166979600	Weak transcription	NHDF-Ad	bronchial
31	chr6:166976400-166988600	Weak transcription	Ovary	ovary
32	chr6:166976600-166979000	Weak transcription	Right Atrium	heart
33	chr6:166976600-166979600	Weak transcription	Right Ventricle	heart
34	chr6:166976800-166979800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr6:166977000-166979600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr6:166977000-166980200	Weak transcription	Brain Germinal Matrix	brain
37	chr6:166977000-166983000	Weak transcription	Esophagus	oesophagus
38	chr6:166977600-166980400	Weak transcription	HUVEC	blood vessel
39	chr6:166977800-166979400	Genic enhancers	Muscle Satellite Cultured Cells	--
40	chr6:166977800-166985800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr6:166978000-166979000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr6:166978000-166980000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
43	chr6:166978000-166981600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr6:166978000-166981800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr6:166978000-166982200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr6:166978200-166979000	Enhancers	Rectal Smooth Muscle	rectum
47	chr6:166978200-166979400	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr6:166978200-166981600	Enhancers	NHLF	lung
49	chr6:166978200-166984600	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr6:166978200-166984600	Weak transcription	Fetal Brain Female	brain

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