Variant report

Variant	rs615951
Chromosome Location	chr5:75944783-75944784
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:75934487..75936821-chr5:75943605..75946585,2	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1423605	0.99[ASN][1000 genomes]
rs17652611	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2252231	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2431361	0.82[ASN][1000 genomes]
rs2431362	0.99[ASN][1000 genomes]
rs2431363	0.81[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.99[ASN][1000 genomes]
rs2431364	0.88[ASN][1000 genomes]
rs2431366	0.99[ASN][1000 genomes]
rs2432186	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2432187	0.90[ASN][1000 genomes]
rs2432188	0.99[ASN][1000 genomes]
rs2432189	0.89[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2455213	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.99[ASN][1000 genomes]
rs2455215	0.99[ASN][1000 genomes]
rs2455229	0.83[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2455234	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs32947	0.81[CHB][hapmap]
rs399058	0.90[ASN][1000 genomes]
rs429703	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs430389	0.99[ASN][1000 genomes]
rs456572	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.99[ASN][1000 genomes]
rs456708	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.97[ASN][1000 genomes]
rs457054	0.98[ASN][1000 genomes]
rs457182	0.99[ASN][1000 genomes]
rs458573	0.99[ASN][1000 genomes]
rs458581	0.99[ASN][1000 genomes]
rs458661	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs460294	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs460374	0.99[ASN][1000 genomes]
rs460431	0.99[ASN][1000 genomes]
rs460482	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.99[ASN][1000 genomes]
rs460562	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.81[MKK][hapmap];0.90[TSI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs461187	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.99[ASN][1000 genomes]
rs461273	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.99[ASN][1000 genomes]
rs461475	0.99[ASN][1000 genomes]
rs462587	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.99[ASN][1000 genomes]
rs463147	0.99[ASN][1000 genomes]
rs463973	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs465988	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.99[ASN][1000 genomes]
rs466393	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019669	chr5:75836365-76477788	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1031881	chr5:75917033-75946265	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1017025	chr5:75926278-75946265	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1035135	chr5:75927027-76092058	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS 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:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75882600-75969400	Weak transcription	Stomach Mucosa	stomach
2	chr5:75914200-75953800	Weak transcription	Colonic Mucosa	Colon
3	chr5:75919200-75955400	Weak transcription	Fetal Kidney	kidney
4	chr5:75929800-75945400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr5:75932200-75945400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr5:75934400-75945000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr5:75935000-75945000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr5:75935000-75945400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:75935200-75945000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr5:75938800-75945400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr5:75943000-75945600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
12	chr5:75943200-75946000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
13	chr5:75943400-75944800	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr5:75943400-75946000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr5:75943400-75946000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr5:75943400-75946200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:75943400-75946200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
18	chr5:75943600-75944800	Enhancers	Osteobl	bone
19	chr5:75943600-75945000	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
20	chr5:75943600-75945200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
21	chr5:75943600-75945600	ZNF genes & repeats	Liver	Liver
22	chr5:75943600-75946000	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
23	chr5:75943600-75946000	ZNF genes & repeats	Primary B cells from cord blood	blood
24	chr5:75943600-75946000	ZNF genes & repeats	Placenta	Placenta
25	chr5:75943600-75946000	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
26	chr5:75943600-75946200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
27	chr5:75943600-75946200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
28	chr5:75943600-75947000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr5:75943800-75945000	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
30	chr5:75943800-75945200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
31	chr5:75943800-75945200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
32	chr5:75943800-75946000	ZNF genes & repeats	Primary T cells from cord blood	blood
33	chr5:75943800-75946000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
34	chr5:75943800-75946200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr5:75943800-75986600	Weak transcription	Gastric	stomach
36	chr5:75944000-75945400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr5:75944000-75945400	Weak transcription	Spleen	Spleen
38	chr5:75944000-75946000	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
39	chr5:75944000-75946000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
40	chr5:75944000-75946200	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr5:75944200-75945000	ZNF genes & repeats	Fetal Lung	lung
42	chr5:75944200-75945000	Weak transcription	Fetal Stomach	stomach
43	chr5:75944200-75945200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr5:75944200-75945200	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr5:75944200-75945400	Weak transcription	Pancreas	Pancrea
46	chr5:75944400-75945200	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
47	chr5:75944400-75945200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
48	chr5:75944400-75946000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr5:75944400-75946200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
50	chr5:75944400-75949800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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