Variant report

Variant	rs17163693
Chromosome Location	chr5:128462174-128462175
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:128461144..128463118-chr5:128795505..128797060,2	MCF-7	breast:
2	chr5:128240931..128241657-chr5:128461887..128462572,2	MCF-7	breast:
3	chr5:128433582..128436325-chr5:128460643..128463570,2	MCF-7	breast:
4	chr5:128449401..128450328-chr5:128462057..128462852,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145808	Chromatin interaction
ENSG00000249421	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs17163696	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17163698	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2059124	1.00[CHB][hapmap]
rs2304578	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs31271	1.00[JPT][hapmap]
rs3734161	1.00[CHB][hapmap]
rs3756749	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3798118	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs41298338	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55741113	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61190669	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73784850	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73784863	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv830485	chr5:128298622-128480492	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv882842	chr5:128301971-128552706	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv599701	chr5:128328165-128773052	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv882847	chr5:128368505-128665719	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
5	nsv882848	chr5:128378225-128516629	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
6	nsv882849	chr5:128446692-128501738	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	nsv462444	chr5:128458834-128531972	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv599702	chr5:128458834-128531972	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	esv2763870	chr5:128460713-128738285	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
10	nsv882850	chr5:128460963-128529794	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:128435200-128462200	Weak transcription	Pancreas	Pancrea
2	chr5:128444000-128462400	Weak transcription	Gastric	stomach
3	chr5:128453200-128462600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr5:128454000-128462200	Weak transcription	Fetal Stomach	stomach
5	chr5:128454200-128462400	Weak transcription	Fetal Heart	heart
6	chr5:128461200-128462400	Enhancers	Primary B cells from peripheral blood	blood
7	chr5:128461200-128462600	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr5:128461400-128462200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
9	chr5:128461400-128462200	Flanking Active TSS	Liver	Liver
10	chr5:128461400-128462400	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr5:128461400-128462400	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr5:128461400-128462600	Enhancers	Primary T cells fromperipheralblood	blood
13	chr5:128461400-128462600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr5:128461400-128462800	Enhancers	Stomach Mucosa	stomach
15	chr5:128461600-128462200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr5:128461600-128462200	Enhancers	Fetal Intestine Small	intestine
17	chr5:128461600-128462200	Flanking Active TSS	GM12878-XiMat	blood
18	chr5:128461600-128462400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr5:128461600-128462400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr5:128461600-128462600	Enhancers	Adipose Nuclei	Adipose
21	chr5:128461600-128462800	Flanking Active TSS	Duodenum Mucosa	Duodenum
22	chr5:128461600-128462800	Enhancers	Fetal Intestine Large	intestine
23	chr5:128461600-128462800	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr5:128461800-128462400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr5:128461800-128462400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr5:128462000-128462200	Enhancers	Primary hematopoietic stem cells	blood
27	chr5:128462000-128462400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr5:128462000-128462400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
29	chr5:128462000-128462400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr5:128462000-128462600	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr5:128462000-128462600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr5:128462000-128462600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr5:128462000-128462600	Enhancers	Small Intestine	intestine
34	chr5:128462000-128462600	Enhancers	NHEK	skin
35	chr5:128462000-128462800	Enhancers	K562	blood

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