Variant report

Variant	rs3824270
Chromosome Location	chr8:68418726-68418727
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	chr8:68418348..68420236-chr8:68421505..68423535,2	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10957389	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11984622	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11994817	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12115004	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1393897	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1566769	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16933341	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1812678	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1847292	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4386963	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57070848	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57097218	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57185404	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57312956	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57714056	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57836294	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58637111	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59607772	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60606572	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61142861	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61220075	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61679446	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6472300	1.00[JPT][hapmap]
rs6472301	1.00[JPT][hapmap]
rs6472303	1.00[JPT][hapmap]
rs6472306	1.00[JPT][hapmap]
rs6472307	1.00[JPT][hapmap]
rs6472308	1.00[JPT][hapmap]
rs6472314	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6651314	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7005010	1.00[JPT][hapmap]
rs7009065	1.00[JPT][hapmap]
rs7018199	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73262665	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73262669	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73262675	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73262680	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73262681	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73262685	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73262686	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73262688	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73262691	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73262695	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73262696	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73264707	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73264769	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73264774	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73264780	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73264784	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73264792	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73264794	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7341614	1.00[CEU][hapmap]
rs7815213	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7824691	1.00[JPT][hapmap]
rs7839073	1.00[JPT][hapmap]
rs7842960	1.00[JPT][hapmap]
rs7843818	1.00[JPT][hapmap]
rs966593	1.00[CEU][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs966594	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752263	chr8:68170946-68788493	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1024135	chr8:68235792-68629789	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv539642	chr8:68235792-68629789	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv2752264	chr8:68244546-68647201	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:68402600-68423000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr8:68416200-68418800	Enhancers	Adipose Nuclei	Adipose
3	chr8:68416200-68419200	Enhancers	HSMM	muscle
4	chr8:68416400-68418800	Enhancers	HMEC	breast
5	chr8:68416400-68419000	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr8:68416800-68418800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:68416800-68419000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:68417200-68420200	Weak transcription	Aorta	Aorta
9	chr8:68417200-68424600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr8:68417400-68424800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr8:68417600-68419000	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr8:68417600-68419200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr8:68417800-68419000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr8:68417800-68419200	Flanking Active TSS	Dnd41	blood
15	chr8:68417800-68419200	Flanking Active TSS	GM12878-XiMat	blood
16	chr8:68417800-68420000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr8:68418000-68418800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr8:68418000-68418800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr8:68418000-68418800	Flanking Active TSS	NH-A	brain
20	chr8:68418000-68418800	Flanking Active TSS	Osteobl	bone
21	chr8:68418000-68419000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr8:68418000-68419000	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr8:68418000-68419000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr8:68418000-68419200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr8:68418200-68419000	Enhancers	Primary T cells from cord blood	blood
26	chr8:68418200-68419000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr8:68418200-68419200	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr8:68418200-68419200	Enhancers	Fetal Thymus	thymus
29	chr8:68418400-68418800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:68418400-68419000	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr8:68418400-68419000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr8:68418400-68419000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr8:68418400-68419000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr8:68418400-68419000	Enhancers	Thymus	Thymus
35	chr8:68418400-68419400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr8:68418400-68419400	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr8:68418400-68420000	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr8:68418600-68418800	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr8:68418600-68418800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr8:68418600-68418800	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr8:68418600-68419000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr8:68418600-68419000	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr8:68418600-68419200	Enhancers	H1 Cell Line	embryonic stem cell
44	chr8:68418600-68419200	Enhancers	H9 Cell Line	embryonic stem cell
45	chr8:68418600-68419200	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr8:68418600-68419200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr8:68418600-68419200	Enhancers	HSMMtube	muscle
48	chr8:68418600-68419200	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr8:68418600-68419200	Enhancers	NHDF-Ad	bronchial
50	chr8:68418600-68419200	Enhancers	NHLF	lung

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