Variant report

Variant	rs6695475
Chromosome Location	chr1:92766781-92766782
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:92763308..92766374-chr1:92766490..92770872,7	K562	blood:

Variant related genes	Relation type
ENSG00000174842	Chromatin interaction
ENSG00000122484	Chromatin interaction

Extended variants
information (count: 96 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10399671	0.87[EUR][1000 genomes]
rs11164423	0.83[AMR][1000 genomes]
rs11166542	1.00[CEU][hapmap];0.88[AMR][1000 genomes]
rs12070923	0.83[AMR][1000 genomes]
rs12075168	0.87[EUR][1000 genomes]
rs12075243	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs12078746	0.88[AMR][1000 genomes]
rs12090761	0.83[AMR][1000 genomes]
rs12098095	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12142556	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs12566527	1.00[CEU][hapmap]
rs17131621	1.00[CEU][hapmap];0.88[AMR][1000 genomes]
rs17131632	0.87[EUR][1000 genomes]
rs17131636	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs41286805	1.00[EUR][1000 genomes]
rs41296171	1.00[EUR][1000 genomes]
rs41313389	1.00[EUR][1000 genomes]
rs55993081	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56297403	1.00[EUR][1000 genomes]
rs56665661	0.83[AMR][1000 genomes]
rs57177520	1.00[EUR][1000 genomes]
rs57217458	1.00[EUR][1000 genomes]
rs57992264	0.88[AMR][1000 genomes]
rs58142139	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58176898	0.82[AFR][1000 genomes]
rs58820626	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs59278612	1.00[EUR][1000 genomes]
rs60265386	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60550001	1.00[EUR][1000 genomes]
rs60755573	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60933677	1.00[EUR][1000 genomes]
rs61141829	1.00[EUR][1000 genomes]
rs61185080	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61410146	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6603970	0.83[AMR][1000 genomes]
rs6660858	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6661028	1.00[EUR][1000 genomes]
rs6662565	1.00[CEU][hapmap];0.88[AMR][1000 genomes]
rs6671543	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs6672838	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs6679259	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6681027	1.00[CEU][hapmap];0.88[AMR][1000 genomes]
rs6681213	1.00[EUR][1000 genomes]
rs6683456	0.87[EUR][1000 genomes]
rs6694248	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6702975	1.00[EUR][1000 genomes]
rs6704484	1.00[EUR][1000 genomes]
rs72958740	1.00[EUR][1000 genomes]
rs72958746	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72958774	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72958781	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72958796	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72960815	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72960831	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72960835	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72960847	1.00[EUR][1000 genomes]
rs72960860	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72960870	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72960872	0.87[EUR][1000 genomes]
rs72962640	1.00[EUR][1000 genomes]
rs72962659	0.87[EUR][1000 genomes]
rs74101123	1.00[EUR][1000 genomes]
rs74101131	1.00[EUR][1000 genomes]
rs74101133	1.00[EUR][1000 genomes]
rs74101146	1.00[EUR][1000 genomes]
rs74101152	1.00[EUR][1000 genomes]
rs74101157	1.00[EUR][1000 genomes]
rs74101184	0.87[EUR][1000 genomes]
rs74101186	0.87[EUR][1000 genomes]
rs74101190	0.87[EUR][1000 genomes]
rs74102832	1.00[EUR][1000 genomes]
rs74102844	1.00[EUR][1000 genomes]
rs74102853	1.00[EUR][1000 genomes]
rs74102861	1.00[EUR][1000 genomes]
rs7513631	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7519603	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7520555	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7520675	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7525174	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7527960	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7529971	1.00[CEU][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7534750	1.00[EUR][1000 genomes]
rs7535181	1.00[CEU][hapmap];0.88[AMR][1000 genomes]
rs7542362	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7542736	0.87[EUR][1000 genomes]
rs7546528	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012864	chr1:92067100-92827761	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv535029	chr1:92067100-92827761	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv530438	chr1:92091957-92827760	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv530046	chr1:92277460-92799794	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv871508	chr1:92478130-92781579	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv830592	chr1:92669282-92805629	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS 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	15 gene(s)	inside rSNPs	diseases
7	nsv870667	chr1:92697188-92813741	Active TSS Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	nsv871352	chr1:92761127-92807238	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats 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	12 gene(s)	inside rSNPs	diseases
9	nsv870854	chr1:92765102-92807238	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
10	nsv871387	chr1:92765102-92813741	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92762800-92767200	Active TSS	GM12878-XiMat	blood
2	chr1:92763200-92766800	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr1:92765200-92791600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:92765200-92792000	Weak transcription	Aorta	Aorta
5	chr1:92765200-92792000	Weak transcription	Esophagus	oesophagus
6	chr1:92765400-92767800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:92765400-92769400	Weak transcription	Placenta	Placenta
8	chr1:92765400-92772200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr1:92765600-92766800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr1:92765600-92766800	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr1:92765600-92766800	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr1:92765600-92767200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr1:92765600-92767200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr1:92765600-92767800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:92765600-92768400	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr1:92765600-92768800	Weak transcription	HSMM	muscle
17	chr1:92765600-92769400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:92765600-92769600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:92765600-92770000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr1:92765600-92770000	Weak transcription	Fetal Muscle Leg	muscle
21	chr1:92765600-92770200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:92765600-92770200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr1:92765600-92770200	Weak transcription	Colonic Mucosa	Colon
24	chr1:92765600-92770200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr1:92765600-92770200	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr1:92765600-92772200	Weak transcription	Left Ventricle	heart
27	chr1:92765600-92775600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr1:92765600-92777600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr1:92765600-92778400	Weak transcription	Fetal Stomach	stomach
30	chr1:92765600-92789600	Weak transcription	Psoas Muscle	Psoas
31	chr1:92765600-92791000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr1:92765600-92791600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr1:92765600-92791800	Weak transcription	Lung	lung
34	chr1:92765600-92791800	Weak transcription	Pancreas	Pancrea
35	chr1:92765600-92791800	Weak transcription	Right Ventricle	heart
36	chr1:92765600-92792000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:92765600-92792000	Weak transcription	Spleen	Spleen
38	chr1:92765800-92766800	Enhancers	Primary T cells from cord blood	blood
39	chr1:92765800-92766800	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr1:92765800-92766800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr1:92765800-92766800	Enhancers	Adipose Nuclei	Adipose
42	chr1:92765800-92766800	Enhancers	Fetal Brain Female	brain
43	chr1:92765800-92766800	Enhancers	Fetal Lung	lung
44	chr1:92765800-92766800	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr1:92765800-92767200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr1:92765800-92767200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr1:92765800-92767400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr1:92765800-92767400	Enhancers	Fetal Heart	heart
49	chr1:92765800-92768800	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr1:92765800-92768800	Weak transcription	Monocytes-CD14+_RO01746	blood

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