Variant report

Variant	rs233072
Chromosome Location	chr1:85807695-85807696
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs1001604	0.96[CEU][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10489513	0.88[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.88[TSI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11161607	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs11161611	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs1146379	0.91[ASN][1000 genomes]
rs1146382	0.89[CEU][hapmap]
rs12044537	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12047422	0.86[EUR][1000 genomes]
rs12124170	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12125557	0.82[EUR][1000 genomes]
rs12140103	0.85[EUR][1000 genomes]
rs1498373	0.89[CEU][hapmap];0.95[GIH][hapmap];0.88[MEX][hapmap];0.88[TSI][hapmap];0.91[EUR][1000 genomes]
rs1498375	0.91[EUR][1000 genomes]
rs1554597	0.85[CEU][hapmap];0.91[GIH][hapmap];0.83[MEX][hapmap];0.85[EUR][1000 genomes]
rs173026	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs18582	0.83[ASW][hapmap];0.89[CEU][hapmap];0.95[GIH][hapmap];0.94[MEX][hapmap];0.90[TSI][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs1884139	0.86[EUR][1000 genomes]
rs2011825	0.86[EUR][1000 genomes]
rs2012683	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2177461	0.84[CEU][hapmap];0.85[EUR][1000 genomes]
rs2207368	0.82[CEU][hapmap];0.87[EUR][1000 genomes]
rs2268667	0.89[CEU][hapmap];0.95[GIH][hapmap];0.88[MEX][hapmap];0.90[TSI][hapmap];0.91[EUR][1000 genomes]
rs2300634	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs2300637	0.92[EUR][1000 genomes]
rs233047	0.89[CEU][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs233050	0.85[CEU][hapmap];0.93[GIH][hapmap];0.81[JPT][hapmap];0.83[MEX][hapmap];0.87[EUR][1000 genomes]
rs233053	0.88[ASW][hapmap];0.96[CEU][hapmap];0.87[CHB][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.89[MEX][hapmap];0.88[TSI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs233054	0.87[EUR][1000 genomes]
rs233055	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs233057	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs233058	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs233059	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs233060	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs233061	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs233062	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs233066	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs233067	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs233068	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs233069	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs233071	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs233074	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs233091	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs233093	0.88[ASW][hapmap];0.89[CEU][hapmap];0.93[GIH][hapmap];0.94[MEX][hapmap];0.86[TSI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs233095	0.92[EUR][1000 genomes]
rs233097	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs233099	0.87[ASW][hapmap];0.89[CEU][hapmap];0.95[GIH][hapmap];0.92[LWK][hapmap];0.94[MEX][hapmap];0.91[MKK][hapmap];0.88[TSI][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs233108	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs233109	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs233112	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.89[LWK][hapmap];0.94[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs233113	0.88[CEU][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs233114	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs233115	0.87[ASW][hapmap];0.88[CEU][hapmap];0.93[GIH][hapmap];0.88[TSI][hapmap];0.83[YRI][hapmap];0.84[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs233118	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.89[LWK][hapmap];0.94[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs233119	0.88[CEU][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs233120	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs233121	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs233124	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.89[LWK][hapmap];0.94[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs233127	0.88[YRI][hapmap];0.82[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs233130	1.00[CEU][hapmap];0.85[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs233131	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs233132	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs233133	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2474123	0.92[CEU][hapmap];0.89[MEX][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2892888	0.84[EUR][1000 genomes]
rs3087894	0.91[EUR][1000 genomes]
rs3768227	0.89[CEU][hapmap];0.95[GIH][hapmap];0.94[MEX][hapmap];0.88[TSI][hapmap];0.91[EUR][1000 genomes]
rs3949301	0.85[EUR][1000 genomes]
rs423105	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4949890	0.92[EUR][1000 genomes]
rs4949900	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs506082	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6576763	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]
rs6576764	0.85[EUR][1000 genomes]
rs6576765	0.83[ASW][hapmap];0.96[CEU][hapmap];0.87[CHB][hapmap];0.90[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.89[MEX][hapmap];0.88[TSI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6576766	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6576767	0.83[EUR][1000 genomes]
rs6657732	0.83[GIH][hapmap]
rs6657817	0.85[EUR][1000 genomes]
rs6671599	0.85[EUR][1000 genomes]
rs66811655	0.91[EUR][1000 genomes]
rs6704103	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs67611930	0.87[EUR][1000 genomes]
rs72724606	0.86[EUR][1000 genomes]
rs761601	0.89[CEU][hapmap];0.95[GIH][hapmap];0.94[MEX][hapmap];0.88[TSI][hapmap];0.91[EUR][1000 genomes]
rs997251	0.85[CEU][hapmap];0.81[JPT][hapmap];0.87[EUR][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	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	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85796600-85809400	Weak transcription	Stomach Mucosa	stomach
2	chr1:85796800-85809600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr1:85798800-85808400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:85798800-85808400	Weak transcription	Ovary	ovary
5	chr1:85798800-85824800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:85798800-85824800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:85799000-85813600	Weak transcription	Fetal Intestine Large	intestine
8	chr1:85800400-85808800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:85800400-85815000	Weak transcription	Fetal Intestine Small	intestine
10	chr1:85803600-85807800	Genic enhancers	Osteobl	bone
11	chr1:85803600-85808600	Enhancers	HUVEC	blood vessel
12	chr1:85804200-85808600	Genic enhancers	HSMM	muscle
13	chr1:85804800-85811000	Enhancers	Muscle Satellite Cultured Cells	--
14	chr1:85805000-85808000	Genic enhancers	NHDF-Ad	bronchial
15	chr1:85805200-85809000	Weak transcription	Fetal Heart	heart
16	chr1:85805400-85808400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr1:85805600-85807800	Weak transcription	HMEC	breast
18	chr1:85805600-85807800	Weak transcription	NHLF	lung
19	chr1:85805600-85808400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:85805800-85811400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr1:85806000-85810400	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr1:85806200-85808000	Weak transcription	NHEK	skin
23	chr1:85806400-85808000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr1:85806400-85808600	Weak transcription	Fetal Kidney	kidney
25	chr1:85806400-85808800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:85806400-85815800	Weak transcription	Pancreas	Pancrea
27	chr1:85806600-85808400	Weak transcription	Colon Smooth Muscle	Colon
28	chr1:85806600-85813600	Weak transcription	Left Ventricle	heart
29	chr1:85806600-85814200	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr1:85806800-85807800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:85806800-85807800	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr1:85806800-85807800	Weak transcription	Fetal Muscle Leg	muscle
33	chr1:85806800-85807800	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr1:85806800-85808400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr1:85806800-85808400	Weak transcription	Adipose Nuclei	Adipose
36	chr1:85806800-85808400	Weak transcription	Psoas Muscle	Psoas
37	chr1:85806800-85809000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr1:85806800-85810200	Weak transcription	Lung	lung
39	chr1:85807000-85808000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr1:85807000-85808200	Weak transcription	Hela-S3	cervix
41	chr1:85807000-85808800	Weak transcription	A549	lung
42	chr1:85807000-85809000	Weak transcription	HepG2	liver
43	chr1:85807200-85809000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr1:85807400-85809400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:85807400-85811000	Enhancers	NH-A	brain
46	chr1:85807600-85807800	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr1:85807600-85808200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr1:85807600-85808200	Enhancers	Aorta	Aorta
49	chr1:85807600-85808600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:85807600-85808800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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