Variant report

Variant	rs6576763
Chromosome Location	chr1:85859376-85859377
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 99 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs1001604	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1006988	0.81[AFR][1000 genomes]
rs10489513	0.94[ASW][hapmap];1.00[CEU][hapmap];0.87[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11161606	0.81[CEU][hapmap];0.92[LWK][hapmap];0.84[MEX][hapmap];0.93[MKK][hapmap];0.84[AFR][1000 genomes]
rs11161607	0.89[CEU][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11161610	0.83[EUR][1000 genomes]
rs11161611	0.89[CEU][hapmap];0.80[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1146379	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1146382	0.85[CEU][hapmap]
rs12044537	1.00[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap];0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12047422	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12124170	0.84[EUR][1000 genomes]
rs12125557	0.89[EUR][1000 genomes]
rs12140103	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1498373	0.85[CEU][hapmap];0.93[GIH][hapmap];0.80[JPT][hapmap];0.83[EUR][1000 genomes]
rs1498375	0.83[EUR][1000 genomes]
rs1554597	0.89[CEU][hapmap];0.98[GIH][hapmap];0.94[MEX][hapmap];0.90[TSI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs173026	0.83[EUR][1000 genomes]
rs18582	0.85[CEU][hapmap];0.93[GIH][hapmap];0.80[JPT][hapmap];0.84[MEX][hapmap];0.84[EUR][1000 genomes]
rs1884139	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2011825	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2012683	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2037594	0.82[LWK][hapmap];0.83[MKK][hapmap];0.91[YRI][hapmap];0.87[AFR][1000 genomes]
rs2177461	0.88[CEU][hapmap];0.80[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2207368	0.87[CEU][hapmap];0.83[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2268667	0.85[CEU][hapmap];0.93[GIH][hapmap];0.80[JPT][hapmap];0.84[EUR][1000 genomes]
rs2300634	0.85[CEU][hapmap];0.80[JPT][hapmap];0.83[EUR][1000 genomes]
rs2300637	0.84[EUR][1000 genomes]
rs233047	0.85[CEU][hapmap];0.80[JPT][hapmap];0.82[YRI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs233050	0.89[CEU][hapmap];0.95[GIH][hapmap];0.94[MEX][hapmap];0.90[TSI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs233053	0.94[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];0.91[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs233054	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs233055	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs233057	0.84[EUR][1000 genomes]
rs233058	0.84[EUR][1000 genomes]
rs233059	0.84[EUR][1000 genomes]
rs233060	0.84[EUR][1000 genomes]
rs233061	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs233062	0.84[EUR][1000 genomes]
rs233066	0.84[EUR][1000 genomes]
rs233067	0.84[EUR][1000 genomes]
rs233068	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs233069	0.84[EUR][1000 genomes]
rs233071	0.84[EUR][1000 genomes]
rs233072	0.82[ASW][hapmap];0.96[CEU][hapmap];0.87[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.89[MEX][hapmap];0.88[TSI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs233091	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs233093	0.82[ASW][hapmap];0.85[CEU][hapmap];0.91[GIH][hapmap];0.80[JPT][hapmap];0.84[MEX][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs233095	0.84[EUR][1000 genomes]
rs233097	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs233099	0.85[CEU][hapmap];0.93[GIH][hapmap];0.80[JPT][hapmap];0.84[MEX][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs233108	0.83[EUR][1000 genomes]
rs233109	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs233112	0.82[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.88[TSI][hapmap];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs233113	0.85[CEU][hapmap];0.80[JPT][hapmap];0.84[EUR][1000 genomes]
rs233114	0.84[EUR][1000 genomes]
rs233115	0.84[CEU][hapmap];0.93[GIH][hapmap];0.83[EUR][1000 genomes]
rs233118	0.82[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.88[TSI][hapmap];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs233119	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs233120	0.83[EUR][1000 genomes]
rs233121	0.84[EUR][1000 genomes]
rs233124	0.82[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.88[TSI][hapmap];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs233127	0.80[JPT][hapmap];0.84[EUR][1000 genomes]
rs233130	0.96[CEU][hapmap];0.90[JPT][hapmap];0.84[EUR][1000 genomes]
rs233131	0.84[EUR][1000 genomes]
rs233132	0.84[EUR][1000 genomes]
rs233133	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2474123	0.82[ASW][hapmap];0.89[CEU][hapmap];0.81[MKK][hapmap];0.88[YRI][hapmap];0.81[AMR][1000 genomes]
rs2892888	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3087894	0.83[EUR][1000 genomes]
rs3768227	0.85[CEU][hapmap];0.93[GIH][hapmap];0.80[JPT][hapmap];0.84[MEX][hapmap];0.83[EUR][1000 genomes]
rs3920521	0.84[AFR][1000 genomes]
rs3949301	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs423105	0.84[EUR][1000 genomes]
rs4949890	0.84[EUR][1000 genomes]
rs4949900	0.89[CEU][hapmap];0.80[JPT][hapmap];0.91[YRI][hapmap];0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs506082	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6576761	0.88[AFR][1000 genomes]
rs6576764	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6576765	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6576766	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6576767	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6657732	0.89[GIH][hapmap]
rs6657817	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6671599	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs66811655	0.83[EUR][1000 genomes]
rs669173	0.83[GIH][hapmap]
rs6697083	0.81[CEU][hapmap]
rs6704103	0.89[CEU][hapmap];0.80[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs67611930	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72724606	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs729655	0.90[AFR][1000 genomes]
rs7525786	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7555670	0.82[YRI][hapmap]
rs761601	0.85[CEU][hapmap];0.93[GIH][hapmap];0.80[JPT][hapmap];0.84[MEX][hapmap];0.84[EUR][1000 genomes]
rs997251	0.89[CEU][hapmap];0.82[AMR][1000 genomes];0.91[EUR][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	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv830470	chr1:85820775-86014080	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1008877	chr1:85843238-85897570	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv3393958	chr1:85857980-85874598	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85839800-85864200	Weak transcription	Aorta	Aorta
2	chr1:85841200-85859800	Weak transcription	NH-A	brain
3	chr1:85845000-85870000	Weak transcription	HSMMtube	muscle
4	chr1:85845800-85859800	Weak transcription	NHLF	lung
5	chr1:85849400-85861600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr1:85849400-85863400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:85850800-85863600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:85852400-85863400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:85852400-85864200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:85852600-85860000	Weak transcription	Gastric	stomach
11	chr1:85852800-85859800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:85853200-85861800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:85853600-85861800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:85853800-85861600	Weak transcription	NHDF-Ad	bronchial
15	chr1:85853800-85864200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:85854000-85861800	Weak transcription	Osteobl	bone
17	chr1:85854600-85862800	Weak transcription	Liver	Liver
18	chr1:85854600-85863400	Weak transcription	HUVEC	blood vessel
19	chr1:85855200-85870000	Weak transcription	Fetal Stomach	stomach
20	chr1:85856000-85872800	Weak transcription	Fetal Intestine Small	intestine
21	chr1:85857000-85860000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr1:85857800-85859400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr1:85857800-85859800	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr1:85858600-85859400	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr1:85858600-85859600	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr1:85858600-85860200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:85858600-85860600	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr1:85858600-85860600	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr1:85858800-85859400	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr1:85858800-85859400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:85858800-85859600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:85858800-85861000	Strong transcription	HSMM	muscle
33	chr1:85858800-85863600	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr1:85859000-85860600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:85859200-85859400	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr1:85859200-85859600	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr1:85859200-85859600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr1:85859200-85860000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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