Variant report

Variant	rs363983
Chromosome Location	chr5:49734505-49734506
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:49731051..49732867-chr5:49733750..49736731,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs13154421	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13158256	0.82[EUR][1000 genomes]
rs13169411	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13174803	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs35647517	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61133464	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032003	chr5:49455624-49881491	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv1023981	chr5:49584188-49871537	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv537757	chr5:49584188-49871537	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1022067	chr5:49584188-49960083	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv537758	chr5:49584188-49960083	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	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
9	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
10	nsv916441	chr5:49584313-49831223	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	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
12	nsv980641	chr5:49733616-49734636	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs363983	LOC647121	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49720400-49736400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:49720400-49736400	Weak transcription	Spleen	Spleen
3	chr5:49723600-49735200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr5:49724200-49735800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr5:49726400-49735000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
6	chr5:49727200-49736000	Weak transcription	HSMM	muscle
7	chr5:49727400-49735000	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr5:49727400-49735200	Weak transcription	Fetal Thymus	thymus
9	chr5:49727600-49735000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:49727600-49735800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr5:49727800-49736400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr5:49728000-49735800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:49728200-49736000	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr5:49728600-49735200	Weak transcription	NHEK	skin
15	chr5:49729200-49735000	Weak transcription	Primary hematopoietic stem cells	blood
16	chr5:49730000-49735000	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr5:49730400-49735000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr5:49730600-49735200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr5:49731400-49735000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr5:49731400-49735000	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr5:49731400-49735200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr5:49731400-49735200	Weak transcription	Duodenum Mucosa	Duodenum
23	chr5:49731400-49735400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr5:49731400-49735600	Weak transcription	Thymus	Thymus
25	chr5:49731600-49736000	Weak transcription	Small Intestine	intestine
26	chr5:49731800-49736000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr5:49732400-49735000	Weak transcription	Primary T cells from cord blood	blood
28	chr5:49732600-49735200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr5:49733000-49734800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr5:49733000-49735200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr5:49733200-49735000	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr5:49733200-49735000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr5:49733200-49735000	Enhancers	Dnd41	blood
34	chr5:49733200-49735200	Weak transcription	Primary B cells from peripheral blood	blood
35	chr5:49733400-49735000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr5:49734000-49735200	Enhancers	Primary B cells from cord blood	blood
37	chr5:49734000-49735200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr5:49734200-49735000	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr5:49734200-49735000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr5:49734400-49734600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr5:49734400-49735000	Enhancers	Primary T killer memory cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links