Variant report

Variant	rs12043617
Chromosome Location	chr1:185056945-185056946
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:185052198..185055026-chr1:185055673..185057195,2	K562	blood:

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs1008502	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10453829	0.89[CHB][hapmap];0.80[CHD][hapmap]
rs1046592	1.00[CEU][hapmap];0.92[MEX][hapmap];0.85[TSI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10489579	0.89[CHB][hapmap];0.80[CHD][hapmap]
rs10489581	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10797997	1.00[ASW][hapmap];1.00[CEU][hapmap];0.83[MKK][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes]
rs10797998	1.00[CEU][hapmap];0.92[MEX][hapmap];0.85[TSI][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10911673	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs10911674	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap];1.00[LWK][hapmap];0.92[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10911676	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10911682	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10911686	0.80[EUR][1000 genomes]
rs12022419	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.86[LWK][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12023744	0.92[EUR][1000 genomes]
rs12025995	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12026000	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12027607	0.84[EUR][1000 genomes]
rs12028809	1.00[CEU][hapmap];0.81[GIH][hapmap];1.00[TSI][hapmap]
rs12030761	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs12030778	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12030967	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12031837	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12035073	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12035433	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12037466	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12037692	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12038919	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap];1.00[LWK][hapmap];0.92[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12039541	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12039657	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12040650	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes]
rs12041374	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12043427	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12043495	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12043561	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12044161	1.00[CEU][hapmap];0.81[GIH][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs12044997	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12045772	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12046095	1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12046202	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12046801	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12049293	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12064938	0.84[EUR][1000 genomes]
rs12086086	1.00[CEU][hapmap];0.92[MEX][hapmap];0.85[TSI][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12094983	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes]
rs12401293	0.85[EUR][1000 genomes]
rs12404644	1.00[ASW][hapmap];1.00[CEU][hapmap];0.89[LWK][hapmap];0.92[MKK][hapmap];0.85[TSI][hapmap];0.84[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs12408279	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12408500	0.80[EUR][1000 genomes]
rs12409926	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1407554	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1415072	0.89[CHB][hapmap];0.80[CHD][hapmap]
rs1544052	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[LWK][hapmap];0.85[TSI][hapmap];0.84[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16823740	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs16865296	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2050566	0.89[CHB][hapmap];0.80[CHD][hapmap]
rs2146328	0.89[CHB][hapmap];0.80[CHD][hapmap]
rs2273881	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2378958	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap];1.00[LWK][hapmap];0.92[MEX][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3766719	0.81[GIH][hapmap]
rs3766720	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[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];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3766723	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3806243	1.00[CEU][hapmap];0.81[GIH][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes]
rs41264588	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs41264590	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56107433	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61125463	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61495015	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6674490	0.84[CHB][hapmap]
rs6684586	0.90[CHB][hapmap];0.81[CHD][hapmap]
rs72724103	0.80[EUR][1000 genomes]
rs72739677	0.84[EUR][1000 genomes]
rs72739679	0.84[EUR][1000 genomes]
rs72739693	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs72739698	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs72739699	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs72741807	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72741808	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72741816	0.80[EUR][1000 genomes]
rs72741819	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv548396	chr1:185038104-185151378	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185016400-185057000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:185016400-185067200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:185016400-185073800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:185016600-185057000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr1:185018400-185101800	Weak transcription	Fetal Brain Male	brain
6	chr1:185021600-185057200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:185028200-185058200	Weak transcription	Brain Substantia Nigra	brain
8	chr1:185030200-185076600	Weak transcription	Gastric	stomach
9	chr1:185032200-185057800	Weak transcription	Primary B cells from peripheral blood	blood
10	chr1:185034800-185057400	Weak transcription	Fetal Brain Female	brain
11	chr1:185034800-185077000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:185035000-185058000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:185035400-185057000	Weak transcription	Fetal Intestine Large	intestine
14	chr1:185035800-185057800	Weak transcription	Fetal Lung	lung
15	chr1:185037800-185065400	Weak transcription	HMEC	breast
16	chr1:185038400-185063600	Weak transcription	Psoas Muscle	Psoas
17	chr1:185038600-185063600	Weak transcription	Left Ventricle	heart
18	chr1:185043600-185069400	Weak transcription	Pancreas	Pancrea
19	chr1:185044000-185065200	Weak transcription	NHEK	skin
20	chr1:185044400-185057400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:185044800-185057000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:185044800-185057600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:185045000-185068800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr1:185046000-185066000	Weak transcription	Stomach Mucosa	stomach
25	chr1:185050000-185060800	Weak transcription	K562	blood
26	chr1:185050000-185067200	Weak transcription	Fetal Heart	heart
27	chr1:185050800-185057000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr1:185051200-185057000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr1:185051200-185057600	Weak transcription	Fetal Stomach	stomach
30	chr1:185051200-185058200	Weak transcription	Fetal Intestine Small	intestine
31	chr1:185052000-185076200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr1:185052200-185058400	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr1:185052400-185074800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr1:185052800-185057000	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr1:185052800-185057000	Weak transcription	HSMM	muscle
36	chr1:185052800-185058200	Weak transcription	Aorta	Aorta
37	chr1:185052800-185058400	Weak transcription	Ovary	ovary
38	chr1:185052800-185070800	Weak transcription	Small Intestine	intestine
39	chr1:185052800-185076600	Weak transcription	Rectal Smooth Muscle	rectum
40	chr1:185053200-185067200	Weak transcription	Brain Hippocampus Middle	brain
41	chr1:185053600-185070800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr1:185054000-185065400	Weak transcription	NHDF-Ad	bronchial
43	chr1:185054200-185057000	Weak transcription	Adipose Nuclei	Adipose
44	chr1:185054200-185073200	Weak transcription	Brain Anterior Caudate	brain
45	chr1:185054200-185073800	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr1:185054400-185101800	Weak transcription	A549	lung
47	chr1:185054600-185063800	Weak transcription	Right Ventricle	heart
48	chr1:185054600-185068800	Weak transcription	Brain Angular Gyrus	brain
49	chr1:185054800-185072400	Weak transcription	HepG2	liver
50	chr1:185055000-185058000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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