Variant report

Variant	rs12513227
Chromosome Location	chr4:121712476-121712477
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10006287	1.00[CEU][hapmap];0.83[CHB][hapmap];0.93[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10026047	0.82[AFR][1000 genomes]
rs10026533	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1015219	1.00[CEU][hapmap];0.83[CHB][hapmap];0.93[JPT][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1033096	0.84[ASN][1000 genomes]
rs10518380	0.92[JPT][hapmap]
rs11098586	0.82[ASN][1000 genomes]
rs11943025	0.83[CHB][hapmap];0.93[JPT][hapmap]
rs12499586	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12499872	0.83[CHB][hapmap];0.93[JPT][hapmap]
rs12507367	1.00[CEU][hapmap];0.84[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12510578	0.81[AMR][1000 genomes]
rs12639772	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs12644850	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1397768	0.86[JPT][hapmap];0.83[EUR][1000 genomes]
rs1397769	0.83[EUR][1000 genomes]
rs1397771	1.00[CEU][hapmap];0.83[CHB][hapmap];0.93[JPT][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1397773	0.83[EUR][1000 genomes]
rs1397774	1.00[CEU][hapmap];0.83[CHB][hapmap];0.93[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1450461	1.00[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1463785	1.00[CHB][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs1496260	0.84[ASN][1000 genomes]
rs1511302	1.00[CEU][hapmap];0.83[CHB][hapmap];0.93[JPT][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1588524	1.00[CEU][hapmap];0.83[CHB][hapmap];0.93[JPT][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs168226	1.00[CEU][hapmap];0.83[CHB][hapmap];0.93[JPT][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17051240	1.00[CEU][hapmap];0.86[JPT][hapmap];0.83[EUR][1000 genomes]
rs17051244	1.00[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap];0.83[EUR][1000 genomes]
rs17051252	1.00[CEU][hapmap];0.83[CHB][hapmap];0.93[JPT][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17051254	1.00[CEU][hapmap];0.83[CHB][hapmap];0.93[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17051259	1.00[CEU][hapmap];0.83[CHB][hapmap];0.93[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17051264	0.80[YRI][hapmap]
rs17051275	0.83[CHB][hapmap];0.92[JPT][hapmap]
rs171068	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1809075	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1849075	0.83[EUR][1000 genomes]
rs1849076	0.83[ASN][1000 genomes]
rs1877214	0.85[AFR][1000 genomes]
rs1877215	0.85[AFR][1000 genomes]
rs2136999	1.00[CEU][hapmap];0.83[CHB][hapmap];0.86[JPT][hapmap];0.83[EUR][1000 genomes]
rs2167208	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs237212	0.85[AFR][1000 genomes]
rs2667171	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28488919	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28810489	0.95[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs343182	1.00[CEU][hapmap];0.83[CHB][hapmap];0.93[JPT][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs343185	1.00[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs343189	1.00[CEU][hapmap];0.83[CHB][hapmap];0.93[JPT][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs343192	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs3789139	1.00[CEU][hapmap];0.83[CHB][hapmap];0.86[JPT][hapmap];0.83[EUR][1000 genomes]
rs3804170	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3804175	1.00[ASN][1000 genomes]
rs3827584	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4833182	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4833183	0.85[AFR][1000 genomes]
rs4833184	0.85[AFR][1000 genomes]
rs4833670	0.91[JPT][hapmap]
rs4833671	0.83[EUR][1000 genomes]
rs4833672	0.83[CHB][hapmap];0.86[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4833689	0.93[JPT][hapmap]
rs57841364	0.85[AFR][1000 genomes]
rs59085467	0.85[AFR][1000 genomes]
rs6813562	1.00[CHB][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs6844159	0.85[CHB][hapmap]
rs6855578	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72678303	0.83[EUR][1000 genomes]
rs72678309	0.83[EUR][1000 genomes]
rs72678319	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72678324	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72678335	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72680418	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72680477	0.81[AMR][1000 genomes]
rs896060	1.00[CEU][hapmap];0.83[CHB][hapmap];0.93[JPT][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879852	chr4:121108734-121768496	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv998094	chr4:121504565-122374203	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1004485	chr4:121542992-121716769	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv916737	chr4:121589793-121748847	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv461634	chr4:121623057-121765527	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv595334	chr4:121623057-121765527	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1013704	chr4:121657648-121791601	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
8	nsv879855	chr4:121691899-121747335	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
9	nsv879856	chr4:121697932-121737767	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
10	nsv879857	chr4:121697932-121747335	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
11	nsv879858	chr4:121703336-121747335	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121671800-121728600	Weak transcription	Left Ventricle	heart
2	chr4:121672000-121722400	Weak transcription	Right Ventricle	heart
3	chr4:121672400-121728800	Weak transcription	Aorta	Aorta
4	chr4:121672400-121728800	Weak transcription	Fetal Stomach	stomach
5	chr4:121673000-121722400	Weak transcription	Fetal Muscle Leg	muscle
6	chr4:121673000-121737400	Weak transcription	Fetal Muscle Trunk	muscle
7	chr4:121677200-121714000	Weak transcription	Fetal Intestine Large	intestine
8	chr4:121677200-121723400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:121679600-121721800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr4:121690600-121715800	Weak transcription	Lung	lung
11	chr4:121690600-121719600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:121690600-121728800	Weak transcription	Fetal Intestine Small	intestine
13	chr4:121691200-121722200	Weak transcription	Ovary	ovary
14	chr4:121695800-121730000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr4:121699200-121728200	Weak transcription	Fetal Lung	lung
16	chr4:121702800-121722200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr4:121704400-121714600	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr4:121704400-121715000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr4:121704400-121724600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr4:121705400-121712600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr4:121705600-121721600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:121705600-121722000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr4:121705800-121716600	Weak transcription	HSMM	muscle
24	chr4:121706000-121720400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr4:121706400-121720200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr4:121706400-121728800	Weak transcription	Pancreas	Pancrea
27	chr4:121707200-121730600	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr4:121707400-121719000	Weak transcription	Fetal Kidney	kidney
29	chr4:121710200-121729600	Weak transcription	Esophagus	oesophagus
30	chr4:121711400-121713200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr4:121712000-121713200	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr4:121712000-121713200	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr4:121712000-121713400	Enhancers	Primary T cells from cord blood	blood
34	chr4:121712400-121713200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr4:121712400-121722400	Weak transcription	NHDF-Ad	bronchial
36	chr4:121712400-121728600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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