Variant report

Variant	rs7246161
Chromosome Location	chr19:43035767-43035768
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10401178	1.00[CEU][hapmap]
rs10402559	1.00[EUR][1000 genomes]
rs10404589	1.00[CEU][hapmap]
rs10405152	1.00[CEU][hapmap]
rs10405410	1.00[CEU][hapmap]
rs10407596	1.00[EUR][1000 genomes]
rs10416108	1.00[CEU][hapmap]
rs10424206	1.00[CEU][hapmap]
rs10425757	1.00[EUR][1000 genomes]
rs11878991	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11879456	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11880554	1.00[CEU][hapmap]
rs11881583	1.00[CEU][hapmap]
rs11883406	1.00[EUR][1000 genomes]
rs11883425	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16975799	1.00[CEU][hapmap]
rs1975178	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28514529	1.00[EUR][1000 genomes]
rs35190409	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36024215	1.00[EUR][1000 genomes]
rs41363350	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs45439592	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45459094	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45463194	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45482593	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45542141	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45551231	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45583435	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45617042	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45618138	1.00[EUR][1000 genomes]
rs45620339	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61739430	1.00[EUR][1000 genomes]
rs6509015	1.00[CEU][hapmap]
rs6509019	1.00[CEU][hapmap]
rs7246227	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7246591	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7247278	1.00[CEU][hapmap]
rs7258854	1.00[CEU][hapmap]
rs73562334	1.00[EUR][1000 genomes]
rs73562336	1.00[EUR][1000 genomes]
rs8105027	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8105525	1.00[CEU][hapmap]
rs8106654	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9676326	0.88[AFR][1000 genomes];1.00[EUR][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	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
2	esv2422471	chr19:42733141-43669485	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
3	esv2422468	chr19:42991289-43669027	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1057390	chr19:43003323-43173028	Enhancers Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv11884	chr19:43035285-43037914	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:43033600-43036200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr19:43033600-43037000	Weak transcription	Spleen	Spleen
3	chr19:43033600-43038400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr19:43033600-43043000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr19:43033600-43043800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr19:43033600-43044200	Weak transcription	Gastric	stomach
7	chr19:43033800-43037000	Weak transcription	Brain Anterior Caudate	brain
8	chr19:43033800-43037600	Weak transcription	Liver	Liver
9	chr19:43033800-43038400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr19:43033800-43038600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr19:43033800-43039200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr19:43033800-43040000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr19:43033800-43043400	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr19:43033800-43044200	Weak transcription	Brain Substantia Nigra	brain
15	chr19:43034000-43037000	Weak transcription	Brain Hippocampus Middle	brain
16	chr19:43034000-43038400	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr19:43034000-43038400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr19:43034000-43038600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr19:43034000-43039800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr19:43034000-43043000	Weak transcription	Adipose Nuclei	Adipose
21	chr19:43034200-43038400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr19:43034200-43038400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr19:43034200-43038400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr19:43034200-43043600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr19:43035200-43037600	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr19:43035400-43035800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr19:43035400-43036000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr19:43035400-43036800	Enhancers	HMEC	breast
29	chr19:43035600-43035800	Enhancers	NHEK	skin
30	chr19:43035600-43036000	Enhancers	Esophagus	oesophagus

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