Variant report

Variant	rs16932996
Chromosome Location	chr8:67546206-67546207
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	chr8:67544478..67546833-chr8:67572717..67575425,2	MCF-7	breast:

Extended variants
information (count: 121 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:118)

rs_ID	r²[population]
rs10283103	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs10504393	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11985572	1.00[CEU][hapmap]
rs11986831	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11987253	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11987254	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11987271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11987311	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11988213	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11990322	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11990331	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11990636	1.00[CEU][hapmap]
rs11992252	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11992295	1.00[EUR][1000 genomes]
rs11993306	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];1.00[ASN][1000 genomes]
rs11993354	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11994827	1.00[EUR][1000 genomes]
rs11995031	1.00[EUR][1000 genomes]
rs11995253	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11995256	1.00[CEU][hapmap]
rs11995291	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11996861	1.00[CEU][hapmap]
rs11997260	1.00[CEU][hapmap]
rs11997554	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11997967	1.00[CEU][hapmap]
rs11998194	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs11998301	1.00[CEU][hapmap]
rs12114734	1.00[CEU][hapmap]
rs12114868	0.96[EUR][1000 genomes]
rs16932983	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16932985	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933013	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs16933026	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes]
rs16933032	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16933034	1.00[CEU][hapmap]
rs16933036	1.00[CEU][hapmap]
rs16933039	1.00[CEU][hapmap]
rs16933057	1.00[CEU][hapmap]
rs16933060	1.00[CEU][hapmap]
rs16933065	1.00[CEU][hapmap]
rs2357998	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2358000	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28432871	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28572179	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28589429	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34301114	1.00[EUR][1000 genomes]
rs35078037	1.00[EUR][1000 genomes]
rs35353562	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35517376	1.00[CEU][hapmap]
rs3808602	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs3824258	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3857962	1.00[CEU][hapmap]
rs3913346	1.00[CEU][hapmap]
rs3929419	1.00[CEU][hapmap]
rs4345540	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs4534119	1.00[CEU][hapmap]
rs56682762	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56742359	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56810217	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56911449	0.96[EUR][1000 genomes]
rs57125106	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57351080	1.00[EUR][1000 genomes]
rs57858031	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58454063	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58806068	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59058682	0.89[AFR][1000 genomes]
rs59089124	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59410806	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59643912	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60165103	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60655524	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60784079	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61469007	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61589642	0.89[AFR][1000 genomes]
rs6472285	1.00[CEU][hapmap]
rs6982202	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6982407	1.00[EUR][1000 genomes]
rs6983632	1.00[CEU][hapmap]
rs6986439	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6986940	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6987665	1.00[CEU][hapmap]
rs6988670	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6991992	1.00[EUR][1000 genomes]
rs6998252	1.00[CEU][hapmap]
rs6998505	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes]
rs6998718	1.00[EUR][1000 genomes]
rs6998777	1.00[CEU][hapmap]
rs7002479	1.00[CEU][hapmap]
rs7003548	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs7008740	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7015619	1.00[CEU][hapmap]
rs7017471	1.00[CEU][hapmap]
rs73248113	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73248122	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73248134	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73248138	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250233	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250238	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250241	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250244	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250249	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250250	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250252	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250262	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73251887	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73253909	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73253915	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73253964	0.89[AFR][1000 genomes]
rs73253968	1.00[EUR][1000 genomes]
rs73261704	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73261763	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73261767	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7828492	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7830436	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7840192	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7844944	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs957655	1.00[CHB][hapmap]
rs979679	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv831346	chr8:67486555-67675324	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv972250	chr8:67542862-67555066	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67526400-67558000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:67526800-67546800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr8:67527000-67554000	Weak transcription	NHEK	skin
4	chr8:67538400-67546400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr8:67538600-67546600	Weak transcription	Psoas Muscle	Psoas
6	chr8:67538600-67546800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr8:67539200-67551200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:67539400-67546400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr8:67539400-67574000	Weak transcription	Spleen	Spleen
10	chr8:67540400-67546800	Weak transcription	Pancreas	Pancrea
11	chr8:67541200-67546800	Weak transcription	Aorta	Aorta
12	chr8:67541800-67546400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr8:67541800-67546600	Weak transcription	K562	blood
14	chr8:67542000-67546600	Weak transcription	Brain Hippocampus Middle	brain
15	chr8:67542200-67546600	Weak transcription	Brain Anterior Caudate	brain
16	chr8:67542200-67546800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr8:67542600-67546800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr8:67542600-67551000	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr8:67543200-67546400	Weak transcription	Fetal Thymus	thymus
20	chr8:67543200-67546800	Weak transcription	NHLF	lung
21	chr8:67543400-67547600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:67543400-67547600	Strong transcription	HSMM	muscle
23	chr8:67543600-67546800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:67543600-67547600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:67543600-67547600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr8:67543600-67550000	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr8:67543800-67546600	Weak transcription	Rectal Smooth Muscle	rectum
28	chr8:67543800-67547600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr8:67544000-67546600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr8:67544000-67546600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr8:67544000-67546600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr8:67544000-67546600	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr8:67544000-67546600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr8:67544000-67547400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr8:67544200-67547400	Strong transcription	HMEC	breast
36	chr8:67544400-67546400	Weak transcription	Brain Germinal Matrix	brain
37	chr8:67544400-67546800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr8:67544400-67550800	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr8:67544600-67546400	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr8:67544600-67546400	Weak transcription	Fetal Brain Male	brain
41	chr8:67544600-67546400	Weak transcription	Lung	lung
42	chr8:67544600-67546600	Weak transcription	Fetal Muscle Leg	muscle
43	chr8:67544600-67547600	Strong transcription	Adipose Nuclei	Adipose
44	chr8:67544600-67547600	Strong transcription	Duodenum Mucosa	Duodenum
45	chr8:67544600-67547600	Strong transcription	Placenta	Placenta
46	chr8:67544600-67547600	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr8:67544600-67547600	Strong transcription	Dnd41	blood
48	chr8:67544600-67550600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr8:67544800-67546600	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr8:67544800-67546600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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