Variant report

Variant	rs3780131
Chromosome Location	chr8:68132706-68132707
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10504399	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1138476	0.82[MEX][hapmap]
rs11557200	0.90[EUR][1000 genomes]
rs11986053	1.00[JPT][hapmap];0.95[YRI][hapmap];0.90[EUR][1000 genomes]
rs11986982	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[EUR][1000 genomes]
rs11988465	0.90[EUR][1000 genomes]
rs11992605	0.90[EUR][1000 genomes]
rs11992626	0.82[MEX][hapmap]
rs11997404	0.94[ASW][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.90[EUR][1000 genomes]
rs12114202	0.90[EUR][1000 genomes]
rs1466283	0.82[MEX][hapmap]
rs16919053	0.94[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];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933138	0.90[EUR][1000 genomes]
rs16933139	0.94[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.90[EUR][1000 genomes]
rs16933147	0.90[EUR][1000 genomes]
rs16933148	0.82[MEX][hapmap]
rs16933160	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.85[EUR][1000 genomes]
rs16933162	0.94[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.90[EUR][1000 genomes]
rs16933170	0.94[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.90[EUR][1000 genomes]
rs16933173	0.94[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.90[EUR][1000 genomes]
rs16933178	0.82[MEX][hapmap]
rs16933182	0.94[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933190	0.88[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933204	1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16933214	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1808140	1.00[JPT][hapmap]
rs2168542	0.90[EUR][1000 genomes]
rs2290585	0.94[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2290586	1.00[JPT][hapmap]
rs2305672	0.94[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];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2305673	0.94[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.90[EUR][1000 genomes]
rs4364616	1.00[JPT][hapmap]
rs55662680	0.90[EUR][1000 genomes]
rs55737416	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55745066	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55865037	0.90[EUR][1000 genomes]
rs55983978	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55986624	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56101466	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56858183	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57101332	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57867847	0.90[EUR][1000 genomes]
rs58448590	0.90[EUR][1000 genomes]
rs58715460	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59335949	0.90[EUR][1000 genomes]
rs59634730	0.90[EUR][1000 genomes]
rs59870074	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60324950	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60894518	0.90[EUR][1000 genomes]
rs61193782	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6984568	0.94[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.90[EUR][1000 genomes]
rs6984597	1.00[JPT][hapmap]
rs6987597	0.90[EUR][1000 genomes]
rs6987624	0.90[EUR][1000 genomes]
rs6988547	1.00[JPT][hapmap]
rs6990298	0.94[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.90[EUR][1000 genomes]
rs6991974	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6998170	1.00[JPT][hapmap]
rs7000650	1.00[JPT][hapmap]
rs7003018	1.00[JPT][hapmap]
rs7004549	0.82[MEX][hapmap]
rs7008877	1.00[JPT][hapmap]
rs7009678	0.94[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap]
rs73691182	0.90[EUR][1000 genomes]
rs73691185	0.90[EUR][1000 genomes]
rs73691186	0.90[EUR][1000 genomes]
rs73691192	0.90[EUR][1000 genomes]
rs73691193	0.90[EUR][1000 genomes]
rs73693124	0.90[EUR][1000 genomes]
rs73693135	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73693152	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73693153	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7461383	0.94[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.90[EUR][1000 genomes]
rs7812425	0.90[EUR][1000 genomes]
rs7812510	0.87[EUR][1000 genomes]
rs7816827	0.90[EUR][1000 genomes]
rs7819894	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs7819895	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs7822754	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7824775	0.90[EUR][1000 genomes]
rs7828748	1.00[JPT][hapmap]
rs7831052	1.00[CEU][hapmap]
rs7833373	0.90[EUR][1000 genomes]
rs7833956	1.00[JPT][hapmap]
rs7834516	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7841884	0.94[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.90[EUR][1000 genomes]
rs7846677	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020062	chr8:68022357-68135111	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1026508	chr8:68038761-68135111	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:68075200-68136800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:68097400-68133600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr8:68100800-68152600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:68101200-68144200	Strong transcription	Liver	Liver
5	chr8:68101200-68144800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:68103000-68140600	Strong transcription	Fetal Intestine Large	intestine
7	chr8:68103000-68151400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr8:68103600-68139600	Strong transcription	Primary T cells from cord blood	blood
9	chr8:68103600-68158200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:68104600-68142400	Strong transcription	Adipose Nuclei	Adipose
11	chr8:68104600-68193000	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr8:68104600-68215600	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr8:68104800-68136200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr8:68104800-68151200	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr8:68104800-68152000	Strong transcription	Fetal Thymus	thymus
16	chr8:68104800-68159600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr8:68104800-68182400	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr8:68105000-68133600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr8:68105000-68140000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr8:68105000-68140600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr8:68105000-68184400	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr8:68105200-68133400	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr8:68105200-68133400	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr8:68105600-68158800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr8:68106600-68134200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr8:68106600-68140600	Strong transcription	Placenta	Placenta
27	chr8:68107200-68139800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr8:68107800-68133600	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr8:68110600-68141400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr8:68111800-68135000	Weak transcription	Fetal Brain Male	brain
31	chr8:68112600-68137600	Weak transcription	Psoas Muscle	Psoas
32	chr8:68113000-68172600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr8:68115200-68137800	Weak transcription	Small Intestine	intestine
34	chr8:68115600-68134200	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr8:68115800-68140800	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr8:68117000-68135200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr8:68117000-68154200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr8:68117800-68135200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr8:68118000-68143600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr8:68118200-68133800	Strong transcription	Osteobl	bone
41	chr8:68118800-68133800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr8:68119000-68157200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr8:68120400-68135000	Weak transcription	HepG2	liver
44	chr8:68120400-68135200	Weak transcription	Stomach Mucosa	stomach
45	chr8:68121000-68133600	Strong transcription	NHDF-Ad	bronchial
46	chr8:68122200-68133600	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr8:68122600-68133600	Strong transcription	Primary B cells from cord blood	blood
48	chr8:68123400-68135400	Weak transcription	Spleen	Spleen
49	chr8:68123400-68145600	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr8:68124200-68135200	Weak transcription	Brain Substantia Nigra	brain

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