Variant report

Variant	rs12047189
Chromosome Location	chr1:85775448-85775449
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:85775211..85778145-chr1:85779507..85781328,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1006989	0.81[EUR][1000 genomes]
rs10489510	0.93[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10747318	0.93[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10782549	0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10873701	0.93[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12022248	0.88[ASN][1000 genomes]
rs12029221	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12033483	0.85[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12034249	0.93[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12035116	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12038426	0.91[AFR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12042780	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1261681	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1342323	0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1357635	0.93[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1357636	0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1391556	0.93[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1523994	0.81[CEU][hapmap]
rs1523995	0.93[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1608537	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17384213	0.93[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17388696	0.83[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1965876	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1975755	0.81[CEU][hapmap]
rs2016104	0.93[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2037594	0.81[EUR][1000 genomes]
rs2064510	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2124139	0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2300633	0.93[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2389948	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3851268	0.90[EUR][1000 genomes]
rs4428939	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4512701	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4631749	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4949889	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4949897	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4949898	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4949899	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs499869	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs539714	0.93[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.90[EUR][1000 genomes]
rs600098	1.00[CHB][hapmap];0.91[JPT][hapmap];0.82[EUR][1000 genomes]
rs604974	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs631817	0.81[EUR][1000 genomes]
rs6420965	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs659070	0.83[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.81[EUR][1000 genomes]
rs6672870	0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72722663	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72722671	0.95[ASN][1000 genomes]
rs72722691	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72724608	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs731194	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7515261	0.93[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7539738	0.81[EUR][1000 genomes]
rs7555670	0.82[EUR][1000 genomes]
rs990916	0.93[CEU][hapmap];0.91[CHB][hapmap];0.92[JPT][hapmap];0.91[EUR][1000 genomes];0.81[ASN][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	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
3	nsv830459	chr1:85589585-85786311	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85772800-85779800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:85773600-85775600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:85774000-85779600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:85774400-85775600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:85774400-85777800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:85774400-85778000	Weak transcription	HMEC	breast
7	chr1:85774400-85779400	Weak transcription	Aorta	Aorta
8	chr1:85774600-85776600	Enhancers	HUVEC	blood vessel
9	chr1:85774600-85777400	Weak transcription	HSMMtube	muscle
10	chr1:85774600-85777400	Weak transcription	NHLF	lung
11	chr1:85774600-85777600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr1:85774600-85777600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:85774600-85777600	Weak transcription	Right Ventricle	heart
14	chr1:85774600-85777800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr1:85774600-85777800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:85774600-85779000	Weak transcription	Fetal Heart	heart
17	chr1:85774600-85779000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr1:85774600-85779400	Weak transcription	Colon Smooth Muscle	Colon
19	chr1:85774600-85779600	Weak transcription	Fetal Lung	lung
20	chr1:85774600-85779600	Weak transcription	Ovary	ovary
21	chr1:85774600-85779800	Weak transcription	Placenta	Placenta
22	chr1:85774600-85779800	Weak transcription	Right Atrium	heart
23	chr1:85774600-85780000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:85774600-85780000	Weak transcription	Lung	lung
25	chr1:85774600-85780000	Weak transcription	Pancreas	Pancrea
26	chr1:85774600-85780000	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr1:85774600-85780000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr1:85774600-85782400	Weak transcription	Fetal Intestine Small	intestine
29	chr1:85774600-85785200	Weak transcription	Liver	Liver
30	chr1:85774600-85785800	Weak transcription	Fetal Intestine Large	intestine
31	chr1:85774600-85787000	Weak transcription	Fetal Stomach	stomach
32	chr1:85774600-85794800	Weak transcription	Spleen	Spleen
33	chr1:85774800-85777400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:85774800-85777400	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr1:85774800-85777600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:85774800-85777600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr1:85774800-85777600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr1:85774800-85777600	Weak transcription	Fetal Brain Female	brain
39	chr1:85774800-85777600	Weak transcription	NHDF-Ad	bronchial
40	chr1:85774800-85777800	Weak transcription	Fetal Muscle Leg	muscle
41	chr1:85774800-85777800	Weak transcription	Psoas Muscle	Psoas
42	chr1:85774800-85777800	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr1:85774800-85779000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr1:85774800-85779600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr1:85774800-85782200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr1:85774800-85782200	Weak transcription	Duodenum Mucosa	Duodenum
47	chr1:85774800-85784000	Weak transcription	HepG2	liver
48	chr1:85774800-85790400	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr1:85774800-85790600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr1:85774800-85794200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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