Variant report

Variant	rs62365900
Chromosome Location	chr5:49728203-49728204
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:49721397..49723979-chr5:49726310..49728493,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10054749	0.93[ASN][1000 genomes]
rs10058578	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10063069	0.90[ASN][1000 genomes]
rs10073802	0.89[ASN][1000 genomes]
rs12110262	0.99[ASN][1000 genomes]
rs1849196	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1849201	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3915990	0.84[ASN][1000 genomes]
rs4030567	0.95[ASN][1000 genomes]
rs4030574	0.92[ASN][1000 genomes]
rs62365888	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62365943	0.94[ASN][1000 genomes]
rs62386166	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62386226	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6862198	0.89[ASN][1000 genomes]
rs7729211	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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

No data

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	chr5:49724000-49733400	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr5:49724200-49731000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr5:49724200-49735800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr5:49724400-49730400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr5:49724600-49729200	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr5:49724600-49730400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr5:49724600-49732400	Enhancers	Primary T cells from cord blood	blood
11	chr5:49724800-49732800	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr5:49725000-49729000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr5:49726000-49731400	Weak transcription	Small Intestine	intestine
14	chr5:49726400-49728600	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr5:49726400-49735000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr5:49726800-49728600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr5:49726800-49731000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr5:49727000-49728800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr5:49727200-49728400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr5:49727200-49728400	Weak transcription	HMEC	breast
21	chr5:49727200-49728600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr5:49727200-49728600	Enhancers	NHEK	skin
23	chr5:49727200-49729600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr5:49727200-49732400	Enhancers	Dnd41	blood
25	chr5:49727200-49734400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr5:49727200-49736000	Weak transcription	HSMM	muscle
27	chr5:49727400-49728600	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr5:49727400-49728800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr5:49727400-49729400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr5:49727400-49729600	Weak transcription	Primary B cells from peripheral blood	blood
31	chr5:49727400-49729600	Weak transcription	Duodenum Mucosa	Duodenum
32	chr5:49727400-49731400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr5:49727400-49735000	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr5:49727400-49735200	Weak transcription	Fetal Thymus	thymus
35	chr5:49727600-49730600	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr5:49727600-49735000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr5:49727600-49735800	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr5:49727800-49736400	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr5:49728000-49728400	Weak transcription	Primary B cells from cord blood	blood
40	chr5:49728000-49735800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr5:49728200-49736000	Enhancers	Primary monocytes fromperipheralblood	blood

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