Variant report

Variant	rs12044557
Chromosome Location	chr1:93712764-93712765
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	chr1:93711984..93714906-chr1:93812778..93814331,2	K562	blood:

Extended variants
information (count: 127 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:126)

rs_ID	r²[population]
rs1010476	0.95[CHB][hapmap];0.88[CHD][hapmap]
rs1060622	0.86[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap]
rs10782959	0.90[CHD][hapmap]
rs1081522	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10874766	0.84[ASN][1000 genomes]
rs1088318	0.80[ASN][1000 genomes]
rs11164870	0.86[CHB][hapmap]
rs11164876	0.90[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs11164879	0.86[CHB][hapmap]
rs11164885	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11164896	0.82[ASN][1000 genomes]
rs11164897	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11164908	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12027142	0.87[ASN][1000 genomes]
rs12030549	0.86[CHB][hapmap]
rs12030843	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12031709	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12031765	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12033147	0.94[CHB][hapmap];0.83[JPT][hapmap]
rs12038699	0.86[CHB][hapmap];0.97[CHD][hapmap];0.81[GIH][hapmap]
rs12044883	0.89[CHB][hapmap]
rs12045001	0.82[ASN][1000 genomes]
rs12046063	0.87[ASN][1000 genomes]
rs12048219	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12118262	0.86[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap]
rs12128131	0.94[CHB][hapmap]
rs12133576	0.86[CHB][hapmap];1.00[CHD][hapmap]
rs12138486	0.81[CEU][hapmap];0.87[CHD][hapmap]
rs12405487	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12406245	0.86[CHB][hapmap]
rs12563120	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12563709	0.82[ASN][1000 genomes]
rs12566752	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1335679	0.86[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap]
rs1426318	0.86[CHB][hapmap]
rs1474927	0.86[CHB][hapmap];0.97[CHD][hapmap]
rs1537758	0.97[EUR][1000 genomes]
rs1559828	0.86[CHB][hapmap];1.00[CHD][hapmap]
rs1572343	0.86[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap]
rs1856027	0.82[CHB][hapmap];0.95[CHD][hapmap]
rs1967721	0.87[EUR][1000 genomes]
rs2031225	0.86[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap]
rs2031226	0.84[CHB][hapmap]
rs2255722	0.95[CHB][hapmap];0.90[CHD][hapmap];0.83[JPT][hapmap]
rs2281524	0.95[CHB][hapmap];0.85[CHD][hapmap]
rs2281525	0.85[CHB][hapmap]
rs2295423	0.86[CHB][hapmap];0.97[CHD][hapmap];0.81[GIH][hapmap]
rs2296558	0.86[CHB][hapmap]
rs2391251	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2391254	0.86[CHB][hapmap];0.94[JPT][hapmap]
rs2484486	0.95[CHB][hapmap];0.87[CHD][hapmap];0.83[JPT][hapmap]
rs2749732	0.90[CHB][hapmap];0.85[CHD][hapmap]
rs2765545	0.97[CHD][hapmap]
rs2783489	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2783490	0.95[CHB][hapmap];0.90[CHD][hapmap];0.83[JPT][hapmap]
rs2783495	0.95[CHB][hapmap];0.90[CHD][hapmap];0.83[JPT][hapmap]
rs2783499	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];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2783500	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2783501	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2783504	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2815406	0.89[CHB][hapmap]
rs2815415	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2815429	0.90[CHB][hapmap];0.85[CHD][hapmap]
rs28782525	0.89[ASN][1000 genomes]
rs2893242	0.89[ASN][1000 genomes]
rs35628716	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35910103	0.82[ASN][1000 genomes]
rs35915989	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3754186	0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs3767964	0.86[CHB][hapmap]
rs3904665	0.88[CHB][hapmap];0.93[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3904666	0.95[CHB][hapmap];0.90[CHD][hapmap];0.83[JPT][hapmap];0.89[ASN][1000 genomes]
rs4000699	0.86[CHB][hapmap]
rs4240966	0.86[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap]
rs4484937	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];0.96[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4847235	0.90[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs4847240	0.86[CHB][hapmap];1.00[CHD][hapmap]
rs4847242	0.93[CEU][hapmap]
rs4847399	0.86[CHB][hapmap];0.97[CHD][hapmap];0.81[GIH][hapmap]
rs4847408	0.86[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap]
rs531358	0.86[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap]
rs531514	0.83[ASN][1000 genomes]
rs535760	0.80[ASN][1000 genomes]
rs547866	0.80[ASN][1000 genomes]
rs565919	0.81[ASN][1000 genomes]
rs58354545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs602204	0.80[ASN][1000 genomes]
rs612037	0.86[CHB][hapmap]
rs61266405	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61799496	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61799497	0.87[ASN][1000 genomes]
rs61799500	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61799516	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61799517	0.82[ASN][1000 genomes]
rs622608	0.86[CHB][hapmap];0.83[ASN][1000 genomes]
rs637646	0.85[CEU][hapmap];0.84[CHB][hapmap];0.83[ASN][1000 genomes]
rs6541349	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6541401	0.86[CHB][hapmap]
rs6541404	0.86[CHB][hapmap];1.00[CHD][hapmap]
rs6676902	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6682670	0.86[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap]
rs6684908	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6703310	0.86[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap]
rs682514	0.83[ASN][1000 genomes]
rs687394	1.00[CEU][hapmap];0.83[CHB][hapmap];0.83[ASN][1000 genomes]
rs693737	0.86[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.80[ASN][1000 genomes]
rs698927	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72959220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7512911	0.83[ASN][1000 genomes]
rs7513705	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs7517363	0.85[CHB][hapmap];1.00[CHD][hapmap]
rs7525248	0.90[CHB][hapmap]
rs7535628	0.90[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs7539307	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs771458	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs771462	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs771478	0.80[ASN][1000 genomes]
rs771481	0.93[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs797666	0.81[ASN][1000 genomes]
rs797668	0.86[CHB][hapmap];0.80[ASN][1000 genomes]
rs797671	0.81[ASN][1000 genomes]
rs797672	0.83[ASN][1000 genomes]
rs797680	0.86[CHB][hapmap]
rs797681	0.83[ASN][1000 genomes]
rs810027	0.95[CHB][hapmap];0.90[CHD][hapmap];0.83[JPT][hapmap]
rs942196	0.86[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830625	chr1:93566378-93735246	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93647000-93756400	Weak transcription	Gastric	stomach
2	chr1:93647200-93757600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr1:93666600-93727000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr1:93688200-93714800	Weak transcription	HSMMtube	muscle
5	chr1:93690400-93729400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:93691200-93732400	Weak transcription	HUVEC	blood vessel
7	chr1:93692200-93787800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr1:93704200-93729800	Weak transcription	Hela-S3	cervix
9	chr1:93706400-93727000	Weak transcription	K562	blood
10	chr1:93706600-93717200	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr1:93707000-93727400	Weak transcription	Liver	Liver
12	chr1:93708600-93714200	Weak transcription	Small Intestine	intestine
13	chr1:93708800-93720200	Weak transcription	NHLF	lung
14	chr1:93709000-93714200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:93709000-93714600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr1:93709000-93717000	Weak transcription	Fetal Lung	lung
17	chr1:93709000-93717400	Weak transcription	Fetal Muscle Trunk	muscle
18	chr1:93709000-93717600	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr1:93709000-93717600	Weak transcription	Ovary	ovary
20	chr1:93709000-93718200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr1:93709000-93718200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr1:93709000-93718400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr1:93709000-93718400	Weak transcription	Aorta	Aorta
24	chr1:93709000-93719000	Weak transcription	NHDF-Ad	bronchial
25	chr1:93709000-93719800	Weak transcription	HSMM	muscle
26	chr1:93709000-93720800	Weak transcription	Osteobl	bone
27	chr1:93709000-93724200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:93709000-93726400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr1:93709000-93727400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr1:93709000-93728200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:93709000-93728200	Weak transcription	HMEC	breast
32	chr1:93709200-93716400	Weak transcription	GM12878-XiMat	blood
33	chr1:93709200-93717600	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr1:93709200-93718200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr1:93709200-93718400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr1:93709200-93718400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr1:93709200-93718400	Weak transcription	Fetal Stomach	stomach
38	chr1:93709200-93727400	Weak transcription	Duodenum Mucosa	Duodenum
39	chr1:93709400-93715800	Weak transcription	Primary hematopoietic stem cells	blood
40	chr1:93709400-93715800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr1:93709400-93718400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr1:93709400-93718400	Weak transcription	Fetal Thymus	thymus
43	chr1:93709400-93718400	Weak transcription	A549	lung
44	chr1:93709400-93727600	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr1:93709600-93713000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr1:93709600-93714000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr1:93709600-93717400	Weak transcription	Fetal Intestine Small	intestine
48	chr1:93709600-93718200	Weak transcription	Primary T cells from cord blood	blood
49	chr1:93709600-93718400	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr1:93709600-93719000	Weak transcription	Primary T helper cells fromperipheralblood	blood

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