Variant report

Variant	rs12046801
Chromosome Location	chr1:185073927-185073928
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:185068561..185071467-chr1:185072156..185075364,3	K562	blood:
2	chr1:185073065..185075023-chr1:185121004..185123409,2	MCF-7	breast:
3	chr1:185063165..185065327-chr1:185071778..185074754,2	MCF-7	breast:

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

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

rs_ID	r²[population]
rs1008502	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1046592	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10489580	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs10489581	1.00[CEU][hapmap];0.92[MEX][hapmap];0.85[TSI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10737256	0.91[CHB][hapmap];0.82[CHD][hapmap];0.87[JPT][hapmap]
rs10797997	1.00[CEU][hapmap]
rs10797998	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10797999	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs10798000	0.86[CHB][hapmap]
rs10911673	0.99[ASN][1000 genomes]
rs10911674	0.85[MEX][hapmap]
rs10911676	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10911682	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10911686	0.81[EUR][1000 genomes]
rs12022419	0.85[TSI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12023744	0.92[EUR][1000 genomes]
rs12025995	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12026000	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12028809	1.00[CEU][hapmap];0.85[TSI][hapmap]
rs12030554	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs12030778	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12030967	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12031837	0.88[EUR][1000 genomes]
rs12035073	1.00[CEU][hapmap];0.92[MEX][hapmap];0.85[TSI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12035433	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12037466	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12037692	1.00[CEU][hapmap];0.92[MEX][hapmap];0.85[TSI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12038919	0.85[MEX][hapmap]
rs12039541	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12040650	1.00[CEU][hapmap]
rs12041374	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12043427	1.00[CEU][hapmap];0.92[MEX][hapmap];0.85[TSI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12043495	1.00[CEU][hapmap];0.92[MEX][hapmap];0.85[TSI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12043561	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12043617	1.00[CEU][hapmap];0.92[MEX][hapmap];0.85[TSI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12044161	1.00[CEU][hapmap];0.85[TSI][hapmap];0.92[EUR][1000 genomes]
rs12044997	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12045772	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12046095	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12046202	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12049293	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12086086	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12094983	1.00[CEU][hapmap]
rs12401293	0.85[EUR][1000 genomes]
rs12404187	0.86[CHB][hapmap]
rs12404644	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12408279	1.00[CEU][hapmap];0.92[MEX][hapmap];0.85[TSI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12408500	0.81[EUR][1000 genomes]
rs12409926	1.00[CEU][hapmap];0.92[MEX][hapmap];0.85[TSI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1322646	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs1407554	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1407555	0.91[CHB][hapmap];0.82[CHD][hapmap];0.86[JPT][hapmap]
rs1407557	0.91[CHB][hapmap];0.82[CHD][hapmap];0.86[JPT][hapmap]
rs1544052	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1591585	0.86[CHB][hapmap]
rs16823740	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16865296	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1884447	0.91[CHB][hapmap];0.91[CHD][hapmap];0.87[JPT][hapmap]
rs2057222	0.86[CHB][hapmap];0.84[CHD][hapmap];0.87[JPT][hapmap]
rs2146329	0.86[CHB][hapmap]
rs2273881	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2378958	0.85[MEX][hapmap]
rs3766720	1.00[CEU][hapmap];0.92[MEX][hapmap];0.85[TSI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3766723	1.00[CEU][hapmap];0.85[MEX][hapmap];0.85[TSI][hapmap];0.85[EUR][1000 genomes]
rs3806243	1.00[CEU][hapmap];0.85[TSI][hapmap];0.81[EUR][1000 genomes]
rs41264588	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41264590	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56107433	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61125463	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61495015	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6424971	0.91[CHB][hapmap];0.82[CHD][hapmap];0.87[JPT][hapmap]
rs6424972	0.86[CHB][hapmap];0.81[CHD][hapmap]
rs6660169	0.86[CHB][hapmap]
rs6673303	0.86[CHB][hapmap]
rs6700484	0.91[CHB][hapmap];0.87[JPT][hapmap]
rs72724103	0.81[EUR][1000 genomes]
rs72739693	0.99[ASN][1000 genomes]
rs72739698	0.99[ASN][1000 genomes]
rs72741807	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72741808	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72741816	0.81[EUR][1000 genomes]
rs72741819	0.81[EUR][1000 genomes]
rs7512290	0.86[CHB][hapmap]
rs7519019	0.91[CHB][hapmap];0.89[CHD][hapmap];0.82[JPT][hapmap]
rs7533198	0.86[CHB][hapmap]

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	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
4	nsv521613	chr1:185071831-185171869	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185018400-185101800	Weak transcription	Fetal Brain Male	brain
2	chr1:185030200-185076600	Weak transcription	Gastric	stomach
3	chr1:185034800-185077000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:185052000-185076200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr1:185052400-185074800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr1:185052800-185076600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr1:185054400-185101800	Weak transcription	A549	lung
8	chr1:185055200-185076600	Weak transcription	Lung	lung
9	chr1:185055400-185096200	Weak transcription	Hela-S3	cervix
10	chr1:185056000-185076800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr1:185056200-185074200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:185056200-185124200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr1:185056400-185074000	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr1:185056600-185074000	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr1:185056600-185077000	Weak transcription	Thymus	Thymus
16	chr1:185057200-185074000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:185057600-185094600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr1:185058200-185074800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr1:185058600-185089000	Weak transcription	Ovary	ovary
20	chr1:185058800-185075800	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr1:185058800-185075800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr1:185058800-185093600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr1:185059000-185076200	Weak transcription	Brain Germinal Matrix	brain
24	chr1:185059000-185124800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr1:185060800-185074000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr1:185063000-185076600	Weak transcription	Fetal Brain Female	brain
27	chr1:185064600-185075200	Weak transcription	Psoas Muscle	Psoas
28	chr1:185065800-185088600	Weak transcription	NHDF-Ad	bronchial
29	chr1:185066000-185074200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:185067200-185074400	Strong transcription	Primary hematopoietic stem cells	blood
31	chr1:185067200-185075200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:185067600-185078400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr1:185067800-185074200	Weak transcription	Brain Hippocampus Middle	brain
34	chr1:185067800-185075800	Weak transcription	Fetal Thymus	thymus
35	chr1:185067800-185076600	Weak transcription	Aorta	Aorta
36	chr1:185067800-185076600	Weak transcription	Spleen	Spleen
37	chr1:185067800-185076800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr1:185067800-185095400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr1:185068000-185076600	Weak transcription	GM12878-XiMat	blood
40	chr1:185068400-185110200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:185068600-185077000	Weak transcription	HUVEC	blood vessel
42	chr1:185068600-185078200	Weak transcription	K562	blood
43	chr1:185069200-185076000	Weak transcription	Fetal Stomach	stomach
44	chr1:185069400-185076400	Weak transcription	Primary T cells from cord blood	blood
45	chr1:185069400-185076600	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr1:185069400-185079800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr1:185069400-185091000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:185069600-185076600	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr1:185069600-185076800	Weak transcription	Liver	Liver
50	chr1:185069600-185077000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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