Variant report

Variant	rs233118
Chromosome Location	chr1:85787967-85787968
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs1001604	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs10489513	0.88[ASW][hapmap];0.96[CEU][hapmap];0.87[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.88[TSI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11161607	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs11161611	0.85[CEU][hapmap];0.80[JPT][hapmap];0.83[EUR][1000 genomes]
rs1146379	0.93[ASN][1000 genomes]
rs1146382	0.89[CEU][hapmap]
rs12044537	0.96[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12047422	0.84[EUR][1000 genomes]
rs12124170	0.91[EUR][1000 genomes]
rs12140103	0.84[EUR][1000 genomes]
rs1498373	0.89[CEU][hapmap];0.98[GIH][hapmap];0.80[JPT][hapmap];0.94[MEX][hapmap];0.88[TSI][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1498375	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1554597	0.85[CEU][hapmap];0.93[GIH][hapmap];0.83[EUR][1000 genomes]
rs173026	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs18582	0.83[ASW][hapmap];0.89[CEU][hapmap];0.98[GIH][hapmap];0.80[JPT][hapmap];0.82[LWK][hapmap];0.89[MEX][hapmap];0.90[TSI][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs1884139	0.84[EUR][1000 genomes]
rs2011825	0.84[EUR][1000 genomes]
rs2012683	0.86[EUR][1000 genomes]
rs2177461	0.84[CEU][hapmap];0.80[JPT][hapmap];0.83[EUR][1000 genomes]
rs2207368	0.82[CEU][hapmap];0.83[JPT][hapmap];0.85[EUR][1000 genomes]
rs2268667	0.89[CEU][hapmap];0.98[GIH][hapmap];0.80[JPT][hapmap];0.94[MEX][hapmap];0.90[TSI][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2300634	0.89[CEU][hapmap];0.80[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2300637	0.91[EUR][1000 genomes]
rs233047	0.89[CEU][hapmap];0.80[JPT][hapmap];0.91[EUR][1000 genomes]
rs233050	0.85[CEU][hapmap];0.91[GIH][hapmap];0.85[EUR][1000 genomes]
rs233053	0.88[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.88[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs233054	0.85[EUR][1000 genomes]
rs233055	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs233057	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs233058	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs233059	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs233060	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs233061	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs233062	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs233066	0.91[EUR][1000 genomes]
rs233067	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs233068	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs233069	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs233071	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs233072	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]
rs233074	0.85[EUR][1000 genomes]
rs233091	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs233093	0.88[ASW][hapmap];0.89[CEU][hapmap];0.95[GIH][hapmap];0.80[JPT][hapmap];0.89[MEX][hapmap];0.86[TSI][hapmap];0.91[EUR][1000 genomes]
rs233095	0.91[EUR][1000 genomes]
rs233097	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs233099	0.87[ASW][hapmap];0.89[CEU][hapmap];0.98[GIH][hapmap];0.80[JPT][hapmap];0.89[MEX][hapmap];0.88[MKK][hapmap];0.88[TSI][hapmap];0.83[YRI][hapmap];0.91[EUR][1000 genomes]
rs233108	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs233109	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs233112	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[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs233113	0.88[CEU][hapmap];0.80[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs233114	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs233115	0.87[ASW][hapmap];0.88[CEU][hapmap];0.95[GIH][hapmap];0.88[LWK][hapmap];0.88[TSI][hapmap];0.87[YRI][hapmap];0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs233119	0.88[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs233120	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs233121	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs233124	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[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs233127	0.80[JPT][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs233130	1.00[CEU][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs233131	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs233132	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs233133	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2474123	0.92[CEU][hapmap];0.84[MEX][hapmap];0.81[EUR][1000 genomes]
rs2892888	0.82[EUR][1000 genomes]
rs3087894	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3768227	0.89[CEU][hapmap];0.98[GIH][hapmap];0.80[JPT][hapmap];0.89[MEX][hapmap];0.88[TSI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3949301	0.83[EUR][1000 genomes]
rs423105	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4949890	0.90[EUR][1000 genomes]
rs4949900	0.85[CEU][hapmap];0.80[JPT][hapmap];0.83[EUR][1000 genomes]
rs506082	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6576763	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]
rs6576764	0.83[EUR][1000 genomes]
rs6576765	0.83[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.88[TSI][hapmap];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6576766	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6576767	0.82[EUR][1000 genomes]
rs6657732	0.85[GIH][hapmap]
rs6657817	0.83[EUR][1000 genomes]
rs6671599	0.83[EUR][1000 genomes]
rs66811655	0.90[EUR][1000 genomes]
rs6704103	0.85[CEU][hapmap];0.80[JPT][hapmap];0.82[EUR][1000 genomes]
rs67611930	0.85[EUR][1000 genomes]
rs72724606	0.84[EUR][1000 genomes]
rs761601	0.89[CEU][hapmap];0.98[GIH][hapmap];0.80[JPT][hapmap];0.89[MEX][hapmap];0.88[TSI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs997251	0.85[CEU][hapmap];0.85[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:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85774600-85794800	Weak transcription	Spleen	Spleen
2	chr1:85774800-85790400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr1:85774800-85790600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr1:85774800-85794200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:85778200-85790400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr1:85778800-85788800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:85778800-85789600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:85780000-85791800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr1:85780000-85795800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr1:85780200-85790400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:85780200-85795800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr1:85780400-85788200	Weak transcription	Fetal Muscle Trunk	muscle
13	chr1:85780400-85791600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr1:85780400-85793200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:85780400-85795800	Weak transcription	Gastric	stomach
16	chr1:85781800-85792800	Weak transcription	Pancreas	Pancrea
17	chr1:85782200-85790600	Genic enhancers	Muscle Satellite Cultured Cells	--
18	chr1:85782400-85795000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr1:85782800-85794600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr1:85783000-85795800	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr1:85783200-85795800	Weak transcription	Aorta	Aorta
22	chr1:85783800-85789800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:85783800-85791000	Genic enhancers	Osteobl	bone
24	chr1:85784000-85789600	Strong transcription	HepG2	liver
25	chr1:85784000-85790400	Weak transcription	Left Ventricle	heart
26	chr1:85784000-85794600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr1:85784600-85794600	Weak transcription	Fetal Lung	lung
28	chr1:85784800-85789400	Genic enhancers	HSMM	muscle
29	chr1:85785200-85788600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:85785200-85789400	Strong transcription	Liver	Liver
31	chr1:85785600-85788800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:85785600-85788800	Enhancers	HMEC	breast
33	chr1:85785800-85789400	Genic enhancers	NHDF-Ad	bronchial
34	chr1:85785800-85789600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr1:85785800-85789800	Strong transcription	Fetal Intestine Large	intestine
36	chr1:85786200-85789400	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr1:85786200-85790400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr1:85786400-85791200	Strong transcription	Fetal Intestine Small	intestine
39	chr1:85786600-85788600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:85786600-85788600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr1:85786600-85788800	Enhancers	A549	lung
42	chr1:85786600-85789000	Enhancers	HUVEC	blood vessel
43	chr1:85786600-85789200	Weak transcription	Right Ventricle	heart
44	chr1:85786600-85789200	Enhancers	NHLF	lung
45	chr1:85786600-85789400	Enhancers	NH-A	brain
46	chr1:85786600-85790000	Weak transcription	Fetal Heart	heart
47	chr1:85786600-85790400	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr1:85786600-85790600	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr1:85786600-85791400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr1:85786600-85791600	Weak transcription	Fetal Kidney	kidney

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