Variant report

Variant	rs11961712
Chromosome Location	chr6:161615353-161615354
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	chr6:161614236..161616057-chr6:161618931..161621008,2	K562	blood:
2	chr6:161611014..161614000-chr6:161615244..161617883,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1040724	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs10499315	1.00[CEU][hapmap];0.80[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10499316	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11970102	0.85[EUR][1000 genomes]
rs13191415	1.00[CEU][hapmap]
rs13192827	1.00[CEU][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13193634	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs13194878	0.99[EUR][1000 genomes]
rs13212679	0.93[EUR][1000 genomes]
rs13215186	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13219494	1.00[CEU][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13220357	1.00[CEU][hapmap];0.92[TSI][hapmap];1.00[EUR][1000 genomes]
rs16892284	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16892303	1.00[CEU][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.99[EUR][1000 genomes]
rs17537799	0.83[EUR][1000 genomes]
rs17626731	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs34620502	0.99[EUR][1000 genomes]
rs35180185	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35267977	0.99[EUR][1000 genomes]
rs35505620	1.00[EUR][1000 genomes]
rs35727114	0.93[EUR][1000 genomes]
rs36030076	0.93[EUR][1000 genomes]
rs4314476	0.83[EUR][1000 genomes]
rs71565796	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71565797	0.99[EUR][1000 genomes]
rs746731	0.98[LWK][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes]
rs7744842	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7747618	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7751159	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7756321	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7758121	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7767737	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs7770491	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7771961	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9458149	1.00[CEU][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][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	nsv886817	chr6:161371621-161846654	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv3381361	chr6:161373617-161864101	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv949397	chr6:161592100-161812932	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv2752091	chr6:161592100-161855785	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv1029727	chr6:161607680-161814295	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv1030623	chr6:161611170-161796985	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv538494	chr6:161611170-161796985	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv5575	chr6:161611584-161643479	ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161585600-161626000	Weak transcription	Right Atrium	heart
2	chr6:161591400-161626200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr6:161591600-161615400	Weak transcription	Fetal Heart	heart
4	chr6:161599800-161647600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr6:161600400-161619400	Weak transcription	Fetal Lung	lung
6	chr6:161600400-161626000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr6:161601400-161636200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr6:161602000-161619400	Weak transcription	Brain Germinal Matrix	brain
9	chr6:161602800-161618600	Weak transcription	Fetal Muscle Leg	muscle
10	chr6:161602800-161626000	Weak transcription	Gastric	stomach
11	chr6:161606200-161615400	Weak transcription	Fetal Kidney	kidney
12	chr6:161607600-161621400	Weak transcription	Adipose Nuclei	Adipose
13	chr6:161607800-161619200	Weak transcription	NHLF	lung
14	chr6:161607800-161619400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr6:161607800-161619400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr6:161607800-161629800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr6:161607800-161644200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr6:161608000-161636000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr6:161608400-161616400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:161610000-161615400	Weak transcription	Fetal Brain Male	brain
21	chr6:161610400-161615400	Weak transcription	Esophagus	oesophagus
22	chr6:161610600-161621800	Weak transcription	Primary T cells from cord blood	blood
23	chr6:161610600-161626000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr6:161610600-161635800	Weak transcription	Ovary	ovary
25	chr6:161610600-161638000	Weak transcription	Aorta	Aorta
26	chr6:161610800-161620400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr6:161610800-161625600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr6:161611000-161637000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr6:161611200-161622000	Weak transcription	Spleen	Spleen
30	chr6:161611400-161619400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr6:161612400-161616000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr6:161612400-161616400	Weak transcription	Brain Hippocampus Middle	brain
33	chr6:161612800-161619200	Weak transcription	Brain Cingulate Gyrus	brain
34	chr6:161613000-161615400	Weak transcription	Brain Substantia Nigra	brain
35	chr6:161613800-161615800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
36	chr6:161613800-161615800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
37	chr6:161613800-161616000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
38	chr6:161614200-161616000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr6:161614400-161616600	Weak transcription	Fetal Brain Female	brain
40	chr6:161614400-161625000	Weak transcription	NH-A	brain
41	chr6:161614800-161620200	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr6:161615000-161616000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr6:161615000-161620200	Weak transcription	Primary hematopoietic stem cells	blood
44	chr6:161615200-161618600	Weak transcription	Primary B cells from cord blood	blood
45	chr6:161615200-161620600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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