Variant report

Variant	rs34512170
Chromosome Location	chr4:48669113-48669114
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11732827	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs13111419	1.00[AFR][1000 genomes]
rs34902597	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][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	nsv1002674	chr4:48507608-49032909	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv537087	chr4:48507608-49032909	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1010923	chr4:48575156-49083089	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv537088	chr4:48575156-49083089	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv1013762	chr4:48580484-49032909	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv537089	chr4:48580484-49032909	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv999203	chr4:48645887-48735512	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv1802666	chr4:48646594-48721327	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1013914	chr4:48652784-48728934	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv537090	chr4:48652784-48728934	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48621200-48729400	Weak transcription	Thymus	Thymus
2	chr4:48638400-48686200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr4:48645200-48679400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr4:48648800-48669200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr4:48653400-48669200	Weak transcription	Gastric	stomach
6	chr4:48654400-48669600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr4:48655800-48685600	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr4:48656200-48670400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr4:48656600-48669800	Weak transcription	Esophagus	oesophagus
10	chr4:48656600-48674200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr4:48656600-48680200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr4:48657400-48686000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr4:48657400-48688600	Weak transcription	Brain Angular Gyrus	brain
14	chr4:48657600-48688600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr4:48663600-48669800	Weak transcription	Colonic Mucosa	Colon
16	chr4:48663600-48700200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:48663800-48670400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr4:48664400-48669600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr4:48664400-48683200	Weak transcription	Ovary	ovary
20	chr4:48665000-48677600	Weak transcription	Fetal Stomach	stomach
21	chr4:48665800-48671400	Enhancers	Fetal Intestine Small	intestine
22	chr4:48665800-48671600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr4:48666000-48669200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr4:48666000-48671200	Enhancers	Fetal Intestine Large	intestine
25	chr4:48666000-48671400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr4:48666200-48669200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr4:48666200-48672600	Weak transcription	Primary B cells from cord blood	blood
28	chr4:48666400-48670600	Weak transcription	Primary B cells from peripheral blood	blood
29	chr4:48666400-48670600	Weak transcription	Right Ventricle	heart
30	chr4:48666400-48683200	Weak transcription	Pancreas	Pancrea
31	chr4:48666600-48670400	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr4:48666600-48685600	Weak transcription	Dnd41	blood
33	chr4:48666600-48686800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr4:48667000-48671400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr4:48667200-48670400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr4:48667200-48670400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr4:48667200-48671400	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr4:48667600-48669200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr4:48667600-48670200	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr4:48667600-48671400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr4:48667600-48671400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr4:48667600-48671400	Enhancers	HUVEC	blood vessel
43	chr4:48667800-48669200	Weak transcription	Brain Substantia Nigra	brain
44	chr4:48667800-48669200	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr4:48668000-48669200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr4:48668000-48669400	Weak transcription	Stomach Mucosa	stomach
47	chr4:48668000-48669800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr4:48668000-48670000	Weak transcription	Fetal Heart	heart
49	chr4:48668000-48670400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr4:48668000-48672600	Weak transcription	Fetal Lung	lung

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