Variant report

Variant	rs16933080
Chromosome Location	chr8:67760268-67760269
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 111 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs10504393	1.00[CEU][hapmap]
rs11985572	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];0.92[EUR][1000 genomes]
rs11986831	1.00[CEU][hapmap]
rs11987280	0.84[EUR][1000 genomes]
rs11987310	0.92[EUR][1000 genomes]
rs11988213	1.00[CEU][hapmap]
rs11990461	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11990636	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11992069	0.92[EUR][1000 genomes]
rs11992605	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11995256	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];0.92[EUR][1000 genomes]
rs11995814	0.86[EUR][1000 genomes]
rs11996861	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs11997260	1.00[CEU][hapmap]
rs11997967	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs11998194	1.00[CEU][hapmap]
rs11998301	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs12114202	0.85[AMR][1000 genomes]
rs12114734	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1367571	0.82[ASW][hapmap];0.81[YRI][hapmap]
rs16933013	1.00[CEU][hapmap]
rs16933026	1.00[CEU][hapmap]
rs16933032	1.00[CEU][hapmap]
rs16933034	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs16933036	1.00[CEU][hapmap]
rs16933039	0.87[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];0.92[EUR][1000 genomes]
rs16933057	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16933060	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.87[TSI][hapmap];0.95[EUR][1000 genomes]
rs16933065	1.00[CEU][hapmap]
rs16933071	1.00[CEU][hapmap]
rs16933079	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933092	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs16933094	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap]
rs16933097	0.94[ASW][hapmap];1.00[CEU][hapmap];0.86[LWK][hapmap];0.90[MKK][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs16933125	1.00[CEU][hapmap]
rs16933138	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.85[AMR][1000 genomes]
rs16933139	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.84[ASN][1000 genomes]
rs2357998	1.00[CEU][hapmap]
rs28547325	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35517376	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];0.92[EUR][1000 genomes]
rs35809374	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3779995	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3808602	1.00[CEU][hapmap]
rs3857962	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs3913346	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs3929419	0.87[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];0.92[EUR][1000 genomes]
rs4073730	0.92[EUR][1000 genomes]
rs4345540	1.00[CEU][hapmap]
rs4534119	1.00[CEU][hapmap]
rs55893527	0.92[EUR][1000 genomes]
rs56056216	0.92[EUR][1000 genomes]
rs56215867	0.92[EUR][1000 genomes]
rs56345609	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56717011	0.85[AMR][1000 genomes]
rs57894537	0.92[EUR][1000 genomes]
rs58434561	0.92[EUR][1000 genomes]
rs58653469	0.92[EUR][1000 genomes]
rs58991268	0.88[EUR][1000 genomes]
rs59226286	0.90[EUR][1000 genomes]
rs59469156	0.92[EUR][1000 genomes]
rs60666237	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60741740	0.92[EUR][1000 genomes]
rs60773515	0.92[EUR][1000 genomes]
rs61080934	0.92[EUR][1000 genomes]
rs61085456	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6472285	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs6472289	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6651278	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6981761	0.92[EUR][1000 genomes]
rs6982137	0.92[EUR][1000 genomes]
rs6982699	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6983632	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];0.92[EUR][1000 genomes]
rs6984447	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6984650	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6985273	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6987597	0.84[ASN][1000 genomes]
rs6987624	0.84[ASN][1000 genomes]
rs6987665	1.00[CEU][hapmap]
rs6998252	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs6998505	1.00[CEU][hapmap]
rs6998777	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];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7002479	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7003548	1.00[CEU][hapmap]
rs7015619	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];0.92[EUR][1000 genomes]
rs7017471	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];0.92[EUR][1000 genomes]
rs73691557	0.82[EUR][1000 genomes]
rs73691562	0.92[EUR][1000 genomes]
rs73691565	0.90[EUR][1000 genomes]
rs73691571	0.92[EUR][1000 genomes]
rs73691572	0.92[EUR][1000 genomes]
rs73691578	0.92[EUR][1000 genomes]
rs73691579	0.92[EUR][1000 genomes]
rs73691582	0.87[EUR][1000 genomes]
rs73691586	0.95[EUR][1000 genomes]
rs73691595	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73693615	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73693631	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73693632	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7815142	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7815863	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7819894	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap]
rs7819895	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs7820403	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7820420	1.00[JPT][hapmap]
rs7824775	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];0.85[AMR][1000 genomes]
rs7840192	1.00[CEU][hapmap]
rs7842770	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs979679	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9918866	0.81[ASW][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs9918869	0.92[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026746	chr8:67639626-67794164	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67688000-67783000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:67689000-67782600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr8:67696600-67767200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr8:67696800-67783000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:67707600-67772200	Weak transcription	Thymus	Thymus
6	chr8:67707600-67773000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr8:67707600-67777000	Weak transcription	Primary B cells from peripheral blood	blood
8	chr8:67707600-67783000	Weak transcription	Gastric	stomach
9	chr8:67711800-67782600	Weak transcription	HepG2	liver
10	chr8:67712200-67777200	Weak transcription	Esophagus	oesophagus
11	chr8:67723800-67768400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr8:67727000-67760400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr8:67727000-67777200	Weak transcription	Pancreas	Pancrea
14	chr8:67727000-67782600	Weak transcription	Aorta	Aorta
15	chr8:67734200-67776000	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr8:67738600-67760400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr8:67738600-67762400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr8:67739800-67774200	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr8:67741800-67774200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr8:67741800-67774200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr8:67742400-67761200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr8:67743400-67767800	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr8:67743400-67772400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr8:67744200-67767600	Weak transcription	Brain Angular Gyrus	brain
25	chr8:67744600-67782800	Weak transcription	HSMM	muscle
26	chr8:67746000-67761000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr8:67746600-67773000	Weak transcription	Small Intestine	intestine
28	chr8:67747800-67761200	Weak transcription	Lung	lung
29	chr8:67749800-67773000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr8:67750800-67760400	Weak transcription	Stomach Smooth Muscle	stomach
31	chr8:67752400-67760400	Weak transcription	Left Ventricle	heart
32	chr8:67753600-67777200	Weak transcription	Spleen	Spleen
33	chr8:67754800-67773200	Weak transcription	Fetal Thymus	thymus
34	chr8:67755200-67771400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr8:67755400-67774000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr8:67757000-67782400	Weak transcription	Colon Smooth Muscle	Colon
37	chr8:67757200-67762200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr8:67757400-67762800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr8:67757400-67782400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr8:67758000-67773400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr8:67758200-67766000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr8:67758200-67770400	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr8:67758600-67773400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr8:67758600-67776000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr8:67758800-67763400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr8:67758800-67764600	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr8:67758800-67772400	Strong transcription	Liver	Liver
48	chr8:67759000-67761400	Strong transcription	Brain Substantia Nigra	brain
49	chr8:67759000-67761600	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr8:67759000-67763600	Strong transcription	Primary neutrophils fromperipheralblood	blood

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