Variant report

Variant	rs6666223
Chromosome Location	chr1:93466062-93466063
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:93459371..93463416-chr1:93464297..93466371,4	K562	blood:

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10493863	0.83[CEU][hapmap];0.82[EUR][1000 genomes]
rs10782945	0.87[CEU][hapmap]
rs10782946	0.87[CEU][hapmap]
rs10874744	0.87[CEU][hapmap]
rs10874746	0.87[CEU][hapmap]
rs10874747	0.84[CEU][hapmap]
rs10874751	0.92[CEU][hapmap]
rs10874753	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs11164820	1.00[JPT][hapmap]
rs11164835	0.92[CEU][hapmap];0.80[EUR][1000 genomes]
rs11164836	0.92[CEU][hapmap];0.80[EUR][1000 genomes]
rs11164840	0.80[EUR][1000 genomes]
rs11164842	0.82[EUR][1000 genomes]
rs11164843	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs11164844	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs11164845	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs11577636	0.82[EUR][1000 genomes]
rs11578986	0.82[EUR][1000 genomes]
rs11583491	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11586570	1.00[JPT][hapmap]
rs11587920	0.82[EUR][1000 genomes]
rs12059883	0.92[CEU][hapmap];0.80[EUR][1000 genomes]
rs12060952	0.92[CEU][hapmap];0.80[EUR][1000 genomes]
rs12065253	0.82[EUR][1000 genomes]
rs12066638	0.92[CEU][hapmap]
rs12069727	0.82[EUR][1000 genomes]
rs12074608	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs12081675	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12728322	1.00[JPT][hapmap]
rs12745968	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs12747275	1.00[JPT][hapmap]
rs1360366	0.87[CEU][hapmap]
rs17380908	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs1854797	1.00[JPT][hapmap]
rs2255717	0.92[CEU][hapmap]
rs2255723	0.92[CEU][hapmap];0.80[EUR][1000 genomes]
rs2263247	0.92[CEU][hapmap]
rs2391177	0.92[CEU][hapmap]
rs2481710	0.92[CEU][hapmap]
rs2481712	0.84[CEU][hapmap]
rs2481713	0.92[CEU][hapmap]
rs2774949	0.92[CEU][hapmap]
rs2774953	0.92[CEU][hapmap]
rs2774956	0.92[CEU][hapmap]
rs2811593	0.92[CEU][hapmap]
rs2811594	0.88[CEU][hapmap]
rs2811600	0.92[CEU][hapmap]
rs2893226	1.00[JPT][hapmap]
rs34084844	0.81[EUR][1000 genomes]
rs34398175	0.81[EUR][1000 genomes]
rs35183060	1.00[JPT][hapmap]
rs35367625	0.82[EUR][1000 genomes]
rs35807969	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4420089	0.80[EUR][1000 genomes]
rs4450029	0.81[EUR][1000 genomes]
rs4561051	0.81[EUR][1000 genomes]
rs4592265	0.82[EUR][1000 genomes]
rs4847378	0.92[CEU][hapmap]
rs4847384	0.87[CEU][hapmap]
rs56193705	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6604026	1.00[JPT][hapmap]
rs6604028	0.92[CEU][hapmap]
rs6604029	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs6604030	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs6604031	0.84[CEU][hapmap]
rs6694051	0.82[EUR][1000 genomes]
rs6698082	0.80[EUR][1000 genomes]
rs6698179	0.81[EUR][1000 genomes]
rs6698233	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs7417198	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs7514280	1.00[JPT][hapmap]
rs7515257	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs7517935	0.82[EUR][1000 genomes]
rs7521417	1.00[JPT][hapmap]
rs7536563	0.87[CEU][hapmap]
rs7542608	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs7543548	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7550347	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs9439948	0.92[CEU][hapmap]
rs949915	0.92[CEU][hapmap]
rs9651257	0.92[CEU][hapmap];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv830614	chr1:93465978-93678700	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised 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	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93463800-93467600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:93465200-93468000	Enhancers	Fetal Intestine Small	intestine
3	chr1:93465600-93466200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr1:93465600-93467200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr1:93465800-93466200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:93465800-93466400	Enhancers	Stomach Mucosa	stomach
7	chr1:93465800-93466600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:93465800-93466800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:93465800-93467000	Enhancers	H1 Cell Line	embryonic stem cell
10	chr1:93465800-93467000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr1:93465800-93467000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:93465800-93467000	Enhancers	Brain Cingulate Gyrus	brain
13	chr1:93465800-93467000	Enhancers	Brain Substantia Nigra	brain
14	chr1:93465800-93467200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:93465800-93467200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:93466000-93466200	Enhancers	Placenta	Placenta
17	chr1:93466000-93466200	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr1:93466000-93466200	Flanking Active TSS	GM12878-XiMat	blood
19	chr1:93466000-93466200	Flanking Active TSS	HSMMtube	muscle
20	chr1:93466000-93466400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr1:93466000-93466400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr1:93466000-93466400	Enhancers	Fetal Brain Male	brain
23	chr1:93466000-93466400	Enhancers	Fetal Brain Female	brain
24	chr1:93466000-93466400	Enhancers	Fetal Heart	heart
25	chr1:93466000-93466600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr1:93466000-93466600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:93466000-93466600	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr1:93466000-93466600	Enhancers	Ovary	ovary
29	chr1:93466000-93466600	Enhancers	Pancreas	Pancrea
30	chr1:93466000-93466600	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr1:93466000-93466600	Enhancers	Small Intestine	intestine
32	chr1:93466000-93466800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr1:93466000-93466800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr1:93466000-93466800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr1:93466000-93466800	Enhancers	Brain Germinal Matrix	brain
36	chr1:93466000-93466800	Enhancers	Fetal Stomach	stomach
37	chr1:93466000-93466800	Enhancers	HMEC	breast
38	chr1:93466000-93466800	Enhancers	HSMM	muscle
39	chr1:93466000-93467000	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr1:93466000-93467000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:93466000-93467000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:93466000-93467000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr1:93466000-93467000	Enhancers	Brain Angular Gyrus	brain
44	chr1:93466000-93467000	Enhancers	Brain Anterior Caudate	brain
45	chr1:93466000-93467000	Enhancers	Brain Hippocampus Middle	brain
46	chr1:93466000-93467000	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr1:93466000-93467000	Enhancers	Placenta Amnion	Placenta Amnion
48	chr1:93466000-93467000	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr1:93466000-93467000	Bivalent Enhancer	NH-A	brain
50	chr1:93466000-93467000	Enhancers	NHEK	skin

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