Variant report

Variant	rs4866001
Chromosome Location	chr5:50009676-50009677
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10038842	1.00[ASN][1000 genomes]
rs10039639	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10041633	1.00[ASN][1000 genomes]
rs10043477	1.00[ASN][1000 genomes]
rs10045122	1.00[ASN][1000 genomes]
rs10052001	1.00[ASN][1000 genomes]
rs10070517	1.00[ASN][1000 genomes]
rs10071272	1.00[ASN][1000 genomes]
rs10434558	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10471888	1.00[ASN][1000 genomes]
rs10471893	1.00[ASN][1000 genomes]
rs10471940	1.00[ASN][1000 genomes]
rs10471956	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11741205	1.00[ASN][1000 genomes]
rs12518013	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12518710	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13162921	1.00[ASN][1000 genomes]
rs13164951	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13355372	1.00[ASN][1000 genomes]
rs13355434	1.00[ASN][1000 genomes]
rs1375127	1.00[ASN][1000 genomes]
rs157970	1.00[JPT][hapmap]
rs171555	1.00[JPT][hapmap]
rs1988613	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2034392	1.00[ASN][1000 genomes]
rs2034394	1.00[ASN][1000 genomes]
rs26066	1.00[ASN][1000 genomes]
rs26068	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2697662	1.00[ASN][1000 genomes]
rs27245	1.00[JPT][hapmap]
rs27251	1.00[JPT][hapmap]
rs282549	1.00[ASN][1000 genomes]
rs282552	1.00[JPT][hapmap]
rs282559	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs32377	1.00[ASN][1000 genomes]
rs32378	1.00[ASN][1000 genomes]
rs4029420	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4101529	1.00[ASN][1000 genomes]
rs4865846	1.00[ASN][1000 genomes]
rs4865974	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes]
rs578198	1.00[JPT][hapmap]
rs6450359	1.00[ASN][1000 genomes]
rs6869356	1.00[ASN][1000 genomes]
rs6879306	1.00[ASN][1000 genomes]
rs6886872	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6888147	1.00[ASN][1000 genomes]
rs73093361	1.00[ASN][1000 genomes]
rs73112331	1.00[ASN][1000 genomes]
rs73112340	1.00[ASN][1000 genomes]
rs7449019	1.00[ASN][1000 genomes]
rs7709831	1.00[ASN][1000 genomes]
rs7710150	1.00[ASN][1000 genomes]
rs7711839	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7723361	1.00[JPT][hapmap]
rs7728222	1.00[ASN][1000 genomes]
rs7730847	1.00[ASN][1000 genomes]
rs7734389	1.00[ASN][1000 genomes]
rs895801	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs921210	1.00[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016583	chr5:49455624-50116720	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1023140	chr5:49455624-50121623	Enhancers Active TSS Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv918220	chr5:49584188-50111282	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv931010	chr5:49584189-50118254	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv523212	chr5:49597497-50058043	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv2757995	chr5:49748352-50058182	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	esv2759342	chr5:49748352-50058182	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv818352	chr5:49958221-50017724	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv462159	chr5:49960673-50229851	Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv598108	chr5:49960673-50229851	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv537759	chr5:49986171-50033616	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv1030068	chr5:49986171-50047352	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv537760	chr5:49986171-50047352	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	nsv1016237	chr5:49986171-50118816	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	nsv537761	chr5:49986171-50118816	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
16	nsv1034445	chr5:49986171-50492609	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
17	nsv521214	chr5:49988020-50037381	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
18	nsv462160	chr5:49988020-50058043	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
19	nsv598109	chr5:49988020-50058043	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
20	nsv598110	chr5:49988020-50089919	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
21	nsv462162	chr5:49989701-50040778	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
22	nsv598111	chr5:49989701-50040778	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
23	nsv598112	chr5:49989701-50062611	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
24	nsv462163	chr5:49989701-50088317	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
25	nsv598113	chr5:49989701-50088317	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
26	nsv598114	chr5:49991561-50088317	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49995800-50011000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:50005600-50010600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr5:50006200-50013600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:50007200-50016000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr5:50007200-50020200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr5:50007400-50010400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:50007400-50010400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr5:50007400-50016000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:50007400-50016200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:50007400-50017200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr5:50007400-50022400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr5:50007400-50022400	Weak transcription	Gastric	stomach
13	chr5:50007600-50009800	Enhancers	Primary B cells from peripheral blood	blood
14	chr5:50007600-50009800	Enhancers	Duodenum Mucosa	Duodenum
15	chr5:50007600-50012000	Weak transcription	Stomach Mucosa	stomach
16	chr5:50007600-50012400	Weak transcription	Small Intestine	intestine
17	chr5:50007600-50012800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr5:50007600-50017200	Weak transcription	NHEK	skin
19	chr5:50007600-50020200	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr5:50007800-50010000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr5:50007800-50010800	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr5:50007800-50010800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr5:50007800-50011000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr5:50007800-50011400	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr5:50007800-50012200	Weak transcription	Fetal Intestine Large	intestine
26	chr5:50007800-50012200	Weak transcription	Fetal Intestine Small	intestine
27	chr5:50007800-50012600	Enhancers	Primary T cells from cord blood	blood
28	chr5:50007800-50014000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr5:50007800-50017800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr5:50007800-50020000	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr5:50007800-50031000	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr5:50008200-50013000	Weak transcription	Liver	Liver
33	chr5:50008400-50011000	Enhancers	Primary T cells fromperipheralblood	blood
34	chr5:50008400-50011000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr5:50008400-50016600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr5:50008600-50010400	Weak transcription	Rectal Smooth Muscle	rectum
37	chr5:50008600-50010600	Weak transcription	Fetal Heart	heart
38	chr5:50008600-50010600	Weak transcription	Left Ventricle	heart
39	chr5:50008600-50011800	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr5:50008800-50010400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr5:50008800-50010600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr5:50008800-50012200	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr5:50008800-50012400	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr5:50008800-50017200	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr5:50009000-50016600	Weak transcription	Dnd41	blood
46	chr5:50009200-50023200	Weak transcription	Primary hematopoietic stem cells	blood
47	chr5:50009400-50010800	Enhancers	H1 Cell Line	embryonic stem cell
48	chr5:50009400-50015400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr5:50009400-50016000	Weak transcription	Fetal Thymus	thymus
50	chr5:50009400-50016200	Weak transcription	Esophagus	oesophagus

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