Variant report

Variant	rs11708257
Chromosome Location	chr3:47058057-47058058
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	chr3:47056274..47058537-chr3:47060198..47062486,2	K562	blood:

Extended variants
information (count: 168 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:161)

rs_ID	r²[population]
rs1024036	1.00[EUR][1000 genomes]
rs10461017	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10461019	0.90[ASW][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10510752	1.00[CHB][hapmap]
rs10865945	1.00[EUR][1000 genomes]
rs11130108	0.90[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11130109	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11706212	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11709693	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11709876	0.91[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11713537	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11721074	1.00[CHD][hapmap]
rs11922925	1.00[EUR][1000 genomes]
rs11928558	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12330516	1.00[EUR][1000 genomes]
rs12487763	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12488371	1.00[EUR][1000 genomes]
rs12631730	0.95[YRI][hapmap]
rs13062185	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13078181	1.00[EUR][1000 genomes]
rs13079416	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13082531	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13083536	1.00[CHD][hapmap]
rs13323092	0.95[YRI][hapmap];1.00[EUR][1000 genomes]
rs1378818	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1463394	0.91[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1466272	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1466273	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1466274	0.89[AMR][1000 genomes]
rs1473382	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1473384	1.00[EUR][1000 genomes]
rs1473385	1.00[EUR][1000 genomes]
rs1563431	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1563432	1.00[CHD][hapmap];1.00[EUR][1000 genomes]
rs1814564	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1869870	0.94[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1874264	1.00[EUR][1000 genomes]
rs1979736	1.00[EUR][1000 genomes]
rs2124509	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2124510	1.00[AMR][1000 genomes]
rs2350642	1.00[EUR][1000 genomes]
rs2385863	1.00[EUR][1000 genomes]
rs2385868	0.91[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2385869	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs28735306	1.00[EUR][1000 genomes]
rs2891887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2891893	0.91[YRI][hapmap];0.89[AMR][1000 genomes]
rs295443	1.00[EUR][1000 genomes]
rs295444	1.00[EUR][1000 genomes]
rs295445	1.00[EUR][1000 genomes]
rs34147581	1.00[EUR][1000 genomes]
rs35366910	1.00[EUR][1000 genomes]
rs4018904	1.00[ASW][hapmap];0.88[LWK][hapmap];0.90[MKK][hapmap];0.95[YRI][hapmap];1.00[EUR][1000 genomes]
rs4282092	1.00[ASW][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4289375	0.86[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4324490	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4373094	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4378998	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4389512	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4450857	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4478107	0.90[ASW][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4522803	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4525902	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4543047	0.91[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4682828	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4682832	0.83[MKK][hapmap];0.86[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4682833	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4682834	1.00[EUR][1000 genomes]
rs4682835	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4682836	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4682838	0.86[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4682840	0.89[AMR][1000 genomes]
rs4682841	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4682843	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4682846	1.00[EUR][1000 genomes]
rs4682847	1.00[EUR][1000 genomes]
rs4683277	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4683279	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4683282	0.91[YRI][hapmap]
rs4683283	0.90[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4683284	0.90[ASW][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4683285	0.91[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4683286	0.90[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4683288	1.00[EUR][1000 genomes]
rs4683289	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4683290	0.90[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4683291	0.85[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4683292	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4683293	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4683303	1.00[EUR][1000 genomes]
rs6442041	0.84[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6442042	0.82[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6442043	0.86[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6442044	0.91[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6442047	0.91[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6442048	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6442062	1.00[EUR][1000 genomes]
rs6442063	1.00[EUR][1000 genomes]
rs6766676	0.91[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6767868	1.00[EUR][1000 genomes]
rs6768169	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6772449	1.00[EUR][1000 genomes]
rs6775797	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6778673	1.00[EUR][1000 genomes]
rs6778687	1.00[EUR][1000 genomes]
rs6780994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6785462	0.84[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6787210	1.00[EUR][1000 genomes]
rs6804732	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6806521	0.90[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6808052	1.00[EUR][1000 genomes]
rs6808117	1.00[EUR][1000 genomes]
rs6808629	1.00[EUR][1000 genomes]
rs6809904	0.86[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73831482	1.00[EUR][1000 genomes]
rs7615774	1.00[EUR][1000 genomes]
rs7621530	0.81[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7624549	0.91[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7625011	0.90[YRI][hapmap];0.89[AMR][1000 genomes]
rs7630154	0.95[YRI][hapmap];1.00[EUR][1000 genomes]
rs7630904	0.86[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7638549	0.90[ASW][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7639121	1.00[EUR][1000 genomes]
rs7643150	1.00[EUR][1000 genomes]
rs7643868	0.86[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7644382	0.95[YRI][hapmap];1.00[EUR][1000 genomes]
rs7646076	0.91[YRI][hapmap];1.00[EUR][1000 genomes]
rs7649413	1.00[EUR][1000 genomes]
rs7649941	0.94[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7650142	0.85[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7652492	1.00[EUR][1000 genomes]
rs924009	1.00[EUR][1000 genomes]
rs936173	1.00[EUR][1000 genomes]
rs936177	0.86[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs936178	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs936179	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs936180	0.86[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs936181	1.00[CHB][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs936182	0.85[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs936185	1.00[EUR][1000 genomes]
rs936186	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9810881	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9812407	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9819344	1.00[EUR][1000 genomes]
rs9819475	1.00[EUR][1000 genomes]
rs9823480	1.00[EUR][1000 genomes]
rs9826488	1.00[EUR][1000 genomes]
rs9827293	1.00[EUR][1000 genomes]
rs9828473	0.89[ASW][hapmap];0.85[YRI][hapmap];1.00[EUR][1000 genomes]
rs9833500	1.00[EUR][1000 genomes]
rs9836801	1.00[EUR][1000 genomes]
rs9850151	1.00[EUR][1000 genomes]
rs9852167	1.00[EUR][1000 genomes]
rs9861247	1.00[EUR][1000 genomes]
rs9861265	1.00[EUR][1000 genomes]
rs9862711	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9869489	1.00[EUR][1000 genomes]
rs9878813	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9883152	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9883909	1.00[EUR][1000 genomes]
rs9990284	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876755	chr3:46895109-47061183	Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv3461834	chr3:46977730-47173228	Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	esv3461835	chr3:46977822-47173168	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	esv3461836	chr3:46977822-47173168	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv876756	chr3:47002931-47586514	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
6	nsv876757	chr3:47018214-47058057	Active TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv997261	chr3:47054766-47133680	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47049800-47058200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr3:47050200-47058200	Weak transcription	Hela-S3	cervix
3	chr3:47050200-47059000	Weak transcription	A549	lung
4	chr3:47050200-47063800	Weak transcription	Stomach Mucosa	stomach
5	chr3:47051200-47058400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr3:47051400-47058200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr3:47051400-47064000	Weak transcription	Small Intestine	intestine
8	chr3:47051600-47058200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr3:47051600-47058400	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr3:47051600-47058400	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr3:47051800-47060400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr3:47051800-47061600	Weak transcription	Right Atrium	heart
13	chr3:47051800-47062000	Weak transcription	Psoas Muscle	Psoas
14	chr3:47052000-47058200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr3:47052000-47058200	Weak transcription	HUVEC	blood vessel
16	chr3:47052000-47058400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr3:47052000-47058400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr3:47052000-47062200	Strong transcription	Fetal Stomach	stomach
19	chr3:47052200-47058200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr3:47052200-47058200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr3:47052200-47058200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr3:47052200-47058200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr3:47052200-47058200	Weak transcription	Brain Germinal Matrix	brain
24	chr3:47052400-47061200	Strong transcription	Spleen	Spleen
25	chr3:47053200-47058200	Weak transcription	Colonic Mucosa	Colon
26	chr3:47053200-47062400	Strong transcription	Fetal Muscle Trunk	muscle
27	chr3:47053400-47062200	Strong transcription	Fetal Muscle Leg	muscle
28	chr3:47053800-47058200	Strong transcription	Lung	lung
29	chr3:47054000-47061800	Strong transcription	Placenta	Placenta
30	chr3:47054200-47059000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr3:47054200-47061600	Genic enhancers	Fetal Intestine Small	intestine
32	chr3:47054200-47062400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr3:47054400-47058400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr3:47054400-47058800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr3:47054400-47059800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr3:47054400-47061400	Strong transcription	Stomach Smooth Muscle	stomach
37	chr3:47054400-47062000	Strong transcription	Adipose Nuclei	Adipose
38	chr3:47054600-47062800	Strong transcription	Fetal Brain Female	brain
39	chr3:47054800-47058400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr3:47054800-47059000	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr3:47054800-47059600	Strong transcription	Esophagus	oesophagus
42	chr3:47054800-47060600	Weak transcription	Fetal Heart	heart
43	chr3:47054800-47060800	Weak transcription	Fetal Brain Male	brain
44	chr3:47055000-47058400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr3:47055000-47059800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr3:47055000-47061600	Strong transcription	Brain Hippocampus Middle	brain
47	chr3:47055000-47062000	Strong transcription	Brain Cingulate Gyrus	brain
48	chr3:47055000-47062400	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr3:47055200-47058400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr3:47055200-47061400	Genic enhancers	Fetal Thymus	thymus

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