Variant report

Variant	rs12023744
Chromosome Location	chr1:185075516-185075517
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	chr1:185071030..185073503-chr1:185073968..185076694,2	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs1008502	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs1046592	1.00[CEU][hapmap];0.85[TSI][hapmap];0.92[EUR][1000 genomes]
rs10489581	1.00[CEU][hapmap];0.81[GIH][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs10797997	1.00[CEU][hapmap];0.92[CHB][hapmap];0.95[CHD][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10797998	1.00[CEU][hapmap];0.85[TSI][hapmap];0.85[EUR][1000 genomes]
rs10911676	0.92[EUR][1000 genomes]
rs10911682	0.85[EUR][1000 genomes]
rs10911686	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12022419	1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs12025995	0.90[EUR][1000 genomes]
rs12026000	0.90[EUR][1000 genomes]
rs12027607	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12028809	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12030778	0.90[EUR][1000 genomes]
rs12030967	0.97[EUR][1000 genomes]
rs12031837	0.90[EUR][1000 genomes]
rs12035073	1.00[CEU][hapmap];0.81[GIH][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs12035433	0.90[EUR][1000 genomes]
rs12037466	0.83[EUR][1000 genomes]
rs12037692	1.00[CEU][hapmap];0.81[GIH][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs12039541	0.83[EUR][1000 genomes]
rs12040650	1.00[CEU][hapmap];0.92[CHB][hapmap];0.95[CHD][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12041374	0.90[EUR][1000 genomes]
rs12043427	1.00[CEU][hapmap];0.81[GIH][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs12043495	1.00[CEU][hapmap];0.81[GIH][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs12043561	0.90[EUR][1000 genomes]
rs12043617	1.00[CEU][hapmap];0.81[GIH][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs12044161	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[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12044997	0.97[EUR][1000 genomes]
rs12045772	0.97[EUR][1000 genomes]
rs12046095	0.90[EUR][1000 genomes]
rs12046202	0.97[EUR][1000 genomes]
rs12046801	0.92[EUR][1000 genomes]
rs12049293	0.88[EUR][1000 genomes]
rs12064938	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12086086	1.00[CEU][hapmap];0.85[TSI][hapmap];0.85[EUR][1000 genomes]
rs12094983	1.00[CEU][hapmap];0.92[CHB][hapmap];0.95[CHD][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12401293	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12404644	1.00[CEU][hapmap];0.85[TSI][hapmap];0.80[EUR][1000 genomes]
rs12408279	1.00[CEU][hapmap];0.81[GIH][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs12408500	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12409926	1.00[CEU][hapmap];0.81[GIH][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs1407554	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs1544052	1.00[CEU][hapmap];0.85[TSI][hapmap];0.85[EUR][1000 genomes]
rs16865296	0.97[EUR][1000 genomes]
rs2273881	0.85[EUR][1000 genomes]
rs3766719	1.00[GIH][hapmap]
rs3766720	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs3766723	1.00[CEU][hapmap];0.81[GIH][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs3806243	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs41264588	0.85[EUR][1000 genomes]
rs41264590	0.90[EUR][1000 genomes]
rs56107433	0.90[EUR][1000 genomes]
rs61125463	0.90[EUR][1000 genomes]
rs61495015	0.90[EUR][1000 genomes]
rs72724103	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72724108	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72739677	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72739679	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72741807	0.90[EUR][1000 genomes]
rs72741808	0.90[EUR][1000 genomes]
rs72741816	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72741817	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72741819	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][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	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:81 , 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	chr1:185052800-185076600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr1:185054400-185101800	Weak transcription	A549	lung
7	chr1:185055200-185076600	Weak transcription	Lung	lung
8	chr1:185055400-185096200	Weak transcription	Hela-S3	cervix
9	chr1:185056000-185076800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr1:185056200-185124200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr1:185056600-185077000	Weak transcription	Thymus	Thymus
12	chr1:185057600-185094600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr1:185058600-185089000	Weak transcription	Ovary	ovary
14	chr1:185058800-185075800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr1:185058800-185075800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr1:185058800-185093600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:185059000-185076200	Weak transcription	Brain Germinal Matrix	brain
18	chr1:185059000-185124800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr1:185063000-185076600	Weak transcription	Fetal Brain Female	brain
20	chr1:185065800-185088600	Weak transcription	NHDF-Ad	bronchial
21	chr1:185067600-185078400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr1:185067800-185075800	Weak transcription	Fetal Thymus	thymus
23	chr1:185067800-185076600	Weak transcription	Aorta	Aorta
24	chr1:185067800-185076600	Weak transcription	Spleen	Spleen
25	chr1:185067800-185076800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:185067800-185095400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:185068000-185076600	Weak transcription	GM12878-XiMat	blood
28	chr1:185068400-185110200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:185068600-185077000	Weak transcription	HUVEC	blood vessel
30	chr1:185068600-185078200	Weak transcription	K562	blood
31	chr1:185069200-185076000	Weak transcription	Fetal Stomach	stomach
32	chr1:185069400-185076400	Weak transcription	Primary T cells from cord blood	blood
33	chr1:185069400-185076600	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr1:185069400-185079800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr1:185069400-185091000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:185069600-185076600	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr1:185069600-185076800	Weak transcription	Liver	Liver
38	chr1:185069600-185077000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:185069600-185088200	Weak transcription	Fetal Lung	lung
40	chr1:185069800-185076000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr1:185070000-185076600	Weak transcription	Fetal Intestine Large	intestine
42	chr1:185070000-185101400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr1:185070200-185088800	Weak transcription	HSMM	muscle
44	chr1:185070400-185089200	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr1:185070600-185075800	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr1:185070600-185076200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr1:185070800-185075800	Weak transcription	Primary B cells from peripheral blood	blood
48	chr1:185071600-185076600	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr1:185071800-185075800	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr1:185073600-185077000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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