Variant report

Variant	rs3767583
Chromosome Location	chr1:92159841-92159842
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:92154030..92157001-chr1:92158555..92160542,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12034795	1.00[JPT][hapmap]
rs2078051	1.00[JPT][hapmap]
rs2078052	1.00[JPT][hapmap]
rs2078053	1.00[JPT][hapmap]
rs4658106	1.00[JPT][hapmap]

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	nsv1009560	chr1:91897078-92270781	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1012864	chr1:92067100-92827761	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv535029	chr1:92067100-92827761	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	esv2763581	chr1:92068967-92203803	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv1014990	chr1:92084142-92206674	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv530438	chr1:92091957-92827760	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv1010179	chr1:92140209-92655952	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv535030	chr1:92140209-92655952	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92146800-92163000	Weak transcription	Hela-S3	cervix
2	chr1:92147400-92164600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:92149000-92170000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:92149400-92172800	Weak transcription	Esophagus	oesophagus
5	chr1:92149600-92166000	Weak transcription	NHEK	skin
6	chr1:92150400-92162600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr1:92150800-92160400	Weak transcription	K562	blood
8	chr1:92151200-92162400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr1:92151200-92164200	Weak transcription	Right Ventricle	heart
10	chr1:92151200-92172800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:92151400-92162200	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr1:92151600-92161800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr1:92151600-92162200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr1:92151600-92162200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr1:92151800-92162400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr1:92152400-92162400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr1:92152600-92184200	Strong transcription	HepG2	liver
18	chr1:92152800-92162400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:92152800-92162400	Weak transcription	Left Ventricle	heart
20	chr1:92152800-92163200	Weak transcription	Fetal Heart	heart
21	chr1:92153000-92162400	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr1:92153000-92197000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr1:92154000-92162200	Weak transcription	Fetal Intestine Small	intestine
24	chr1:92155400-92161600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:92155400-92162400	Weak transcription	Spleen	Spleen
26	chr1:92155400-92178800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:92155600-92178800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr1:92155800-92162000	Weak transcription	Fetal Intestine Large	intestine
29	chr1:92155800-92171600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:92155800-92191200	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr1:92156000-92161400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr1:92156000-92163200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr1:92156000-92163200	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr1:92156000-92172800	Weak transcription	Gastric	stomach
35	chr1:92156200-92162400	Weak transcription	Duodenum Mucosa	Duodenum
36	chr1:92156200-92172800	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr1:92156200-92177800	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr1:92157800-92162000	Strong transcription	Liver	Liver
39	chr1:92157800-92163800	Strong transcription	Placenta	Placenta
40	chr1:92158200-92160600	Genic enhancers	NHDF-Ad	bronchial
41	chr1:92158200-92161400	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr1:92158200-92163000	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr1:92158400-92160200	Genic enhancers	Colon Smooth Muscle	Colon
44	chr1:92158600-92161400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:92158800-92160000	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr1:92158800-92160400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr1:92158800-92160600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr1:92158800-92161600	Genic enhancers	Adipose Nuclei	Adipose
49	chr1:92159000-92160000	Enhancers	Stomach Smooth Muscle	stomach
50	chr1:92159000-92160000	Enhancers	NHLF	lung

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