Variant report

Variant	rs4458731
Chromosome Location	chr6:121542358-121542359
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 112 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:109)

rs_ID	r²[population]
rs10499102	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs10499103	0.88[CHB][hapmap];0.82[JPT][hapmap]
rs10499105	0.90[YRI][hapmap];0.81[EUR][1000 genomes]
rs10499107	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs10499108	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs10499110	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs10782210	0.93[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs11964400	0.81[EUR][1000 genomes]
rs11968501	0.84[YRI][hapmap];0.81[EUR][1000 genomes]
rs12525057	0.81[EUR][1000 genomes]
rs12525337	0.85[EUR][1000 genomes]
rs12526903	0.81[EUR][1000 genomes]
rs12527618	0.81[EUR][1000 genomes]
rs12530424	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs1273739	0.95[YRI][hapmap];0.88[AFR][1000 genomes]
rs1273757	0.95[YRI][hapmap];0.94[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs1273759	1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs1273760	1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs1273766	0.94[AFR][1000 genomes]
rs1273772	0.94[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs1273774	0.94[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs1273775	1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs1273776	0.94[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs1314812	0.94[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs1621008	0.94[AFR][1000 genomes]
rs1697446	1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs17052877	0.82[JPT][hapmap]
rs17083156	0.81[JPT][hapmap]
rs17083168	0.82[JPT][hapmap]
rs17083211	0.88[CHB][hapmap]
rs17083268	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs17083302	0.89[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs17083356	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs17083358	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs17083360	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs17083375	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs17083385	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs17083387	0.95[YRI][hapmap];0.81[EUR][1000 genomes]
rs17083389	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs17083393	0.81[EUR][1000 genomes]
rs17083397	0.86[CHB][hapmap]
rs17083405	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs17083417	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs17083420	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs17083421	0.86[CHB][hapmap]
rs17083432	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs17083435	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1948733	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs2173837	1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2173838	1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2389414	0.85[YRI][hapmap]
rs34349558	0.81[EUR][1000 genomes]
rs35710769	0.88[ASN][1000 genomes]
rs4144169	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs4245508	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4257888	0.82[AFR][1000 genomes]
rs4466276	0.95[YRI][hapmap]
rs4483022	0.91[YRI][hapmap];0.81[EUR][1000 genomes]
rs4527742	0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs4543411	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs4580906	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs4585597	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs4585603	0.95[YRI][hapmap];0.81[EUR][1000 genomes]
rs4945683	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs4946549	0.88[CHB][hapmap];0.82[JPT][hapmap]
rs4946551	0.95[YRI][hapmap];0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs4946555	0.89[CHB][hapmap];0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs4946556	0.88[CHB][hapmap];0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs4946557	0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs4946560	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs4946564	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4946566	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4946567	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59480217	0.81[EUR][1000 genomes]
rs6569179	1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs6569182	1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs6569183	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs6569184	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6569194	0.95[YRI][hapmap];0.81[EUR][1000 genomes]
rs6907975	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6912500	0.95[YRI][hapmap];0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6916425	1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs6920459	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6930191	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6933263	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6933489	0.90[YRI][hapmap];0.81[EUR][1000 genomes]
rs6935039	1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs6941332	0.81[EUR][1000 genomes]
rs706860	0.88[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs73524557	0.94[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs73526655	0.81[EUR][1000 genomes]
rs73526665	0.81[EUR][1000 genomes]
rs7452947	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7762181	0.95[YRI][hapmap];0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7762977	0.95[YRI][hapmap];0.87[AFR][1000 genomes]
rs785401	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs785403	0.94[AFR][1000 genomes]
rs785404	0.94[AFR][1000 genomes]
rs810826	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs811484	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs813068	0.86[YRI][hapmap];0.87[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs905026	0.91[AFR][1000 genomes]
rs9375015	0.85[YRI][hapmap];0.91[AFR][1000 genomes]
rs9375017	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs9385188	0.91[YRI][hapmap];0.86[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs9385191	0.98[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs9387932	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]
rs9482123	0.87[YRI][hapmap]
rs9490138	0.86[YRI][hapmap]

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	nsv1023384	chr6:121235867-121683448	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv530527	chr6:121298528-121789855	ZNF genes & repeats Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv604572	chr6:121465011-121544876	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:121487400-121556000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr6:121509600-121575400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:121515600-121544200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:121516000-121560200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr6:121528400-121551800	Weak transcription	Psoas Muscle	Psoas
6	chr6:121533000-121566800	Weak transcription	Stomach Mucosa	stomach
7	chr6:121535000-121569200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr6:121536200-121567200	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr6:121536400-121544200	Weak transcription	Osteobl	bone
10	chr6:121536400-121556200	Weak transcription	Primary B cells from cord blood	blood
11	chr6:121536400-121556200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr6:121536600-121544000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:121536600-121545000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr6:121536600-121556000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr6:121536600-121556000	Weak transcription	Pancreas	Pancrea
16	chr6:121536600-121556400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr6:121536600-121556600	Weak transcription	Left Ventricle	heart
18	chr6:121536600-121558400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr6:121536600-121566000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr6:121536600-121568200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr6:121536600-121585400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr6:121536800-121556000	Weak transcription	Fetal Stomach	stomach
23	chr6:121536800-121556600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr6:121536800-121565600	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr6:121536800-121566000	Weak transcription	Duodenum Mucosa	Duodenum
26	chr6:121536800-121566000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr6:121536800-121566000	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr6:121536800-121584400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr6:121537000-121584600	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr6:121537200-121556000	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr6:121537200-121556200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr6:121537200-121556200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr6:121537200-121562400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr6:121537400-121544200	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr6:121537400-121556200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr6:121537400-121556600	Weak transcription	Right Ventricle	heart
37	chr6:121537400-121567800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr6:121538200-121565800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr6:121538200-121567000	Weak transcription	Primary B cells from peripheral blood	blood
40	chr6:121538400-121544000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr6:121538600-121544000	Weak transcription	HSMM	muscle
42	chr6:121538600-121556000	Weak transcription	Fetal Intestine Small	intestine
43	chr6:121538800-121542600	Weak transcription	Dnd41	blood
44	chr6:121538800-121546200	Weak transcription	Fetal Brain Male	brain
45	chr6:121539200-121567600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr6:121539400-121562200	Weak transcription	Fetal Kidney	kidney
47	chr6:121539400-121563200	Weak transcription	Brain Substantia Nigra	brain
48	chr6:121540200-121542400	Weak transcription	Primary hematopoietic stem cells	blood
49	chr6:121540200-121555800	Weak transcription	Fetal Intestine Large	intestine
50	chr6:121540400-121555800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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