Variant report

Variant	rs11709693
Chromosome Location	chr3:47075039-47075040
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:47072469..47075207-chr3:47077387..47079210,2	K562	blood:
2	chr3:47074366..47076191-chr3:47079494..47081958,2	K562	blood:
3	chr3:47069157..47071799-chr3:47073550..47075911,2	K562	blood:

Extended variants
information (count: 167 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:162)

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[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
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]
rs11708257	1.00[ASW][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11709876	1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11713537	1.00[MEX][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
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	0.82[LWK][hapmap];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]
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	1.00[TSI][hapmap];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[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1563431	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1563432	1.00[MEX][hapmap];1.00[TSI][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	1.00[MEX][hapmap];1.00[TSI][hapmap];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]
rs295431	1.00[EUR][1000 genomes]
rs295432	1.00[EUR][1000 genomes]
rs295434	1.00[EUR][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];0.94[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];1.00[EUR][1000 genomes]
rs4282092	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][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];0.81[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][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[TSI][hapmap];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	1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap]
rs4683283	1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4683284	0.90[ASW][hapmap];1.00[MEX][hapmap];1.00[TSI][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	1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4683291	1.00[TSI][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4683292	1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4683293	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4683303	1.00[MEX][hapmap];1.00[TSI][hapmap];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	1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6808052	1.00[MEX][hapmap];1.00[TSI][hapmap];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[MEX][hapmap];1.00[TSI][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]
rs807933	1.00[EUR][1000 genomes]
rs924009	1.00[EUR][1000 genomes]
rs936173	1.00[MEX][hapmap];1.00[TSI][hapmap];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[TSI][hapmap];0.86[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs936182	1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs936185	1.00[TSI][hapmap];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];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];1.00[EUR][1000 genomes]
rs9833500	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs9836801	1.00[MEX][hapmap];1.00[TSI][hapmap];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:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47061000-47076200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr3:47061000-47079000	Weak transcription	Fetal Brain Male	brain
3	chr3:47061200-47076000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr3:47061200-47083000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr3:47061400-47076000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr3:47061400-47076200	Weak transcription	HSMMtube	muscle
7	chr3:47062000-47075400	Weak transcription	A549	lung
8	chr3:47062200-47075400	Weak transcription	Aorta	Aorta
9	chr3:47062200-47076000	Weak transcription	Fetal Kidney	kidney
10	chr3:47062200-47077800	Weak transcription	Colonic Mucosa	Colon
11	chr3:47062800-47075400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr3:47062800-47076400	Weak transcription	Fetal Brain Female	brain
13	chr3:47063200-47079000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr3:47064400-47076600	Weak transcription	Psoas Muscle	Psoas
15	chr3:47064400-47079000	Weak transcription	Pancreas	Pancrea
16	chr3:47064400-47079000	Weak transcription	Right Ventricle	heart
17	chr3:47064600-47075400	Weak transcription	NHLF	lung
18	chr3:47064600-47076400	Weak transcription	Small Intestine	intestine
19	chr3:47064800-47076600	Weak transcription	Gastric	stomach
20	chr3:47065000-47077000	Weak transcription	Stomach Mucosa	stomach
21	chr3:47066800-47075600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr3:47066800-47075800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr3:47066800-47076000	Weak transcription	Brain Anterior Caudate	brain
24	chr3:47066800-47076000	Weak transcription	NHDF-Ad	bronchial
25	chr3:47066800-47076600	Weak transcription	Esophagus	oesophagus
26	chr3:47066800-47079000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr3:47067000-47075600	Weak transcription	Stomach Smooth Muscle	stomach
28	chr3:47067000-47075800	Weak transcription	Colon Smooth Muscle	Colon
29	chr3:47067000-47076200	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr3:47067000-47076600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr3:47067200-47076000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr3:47067200-47076000	Weak transcription	Brain Substantia Nigra	brain
33	chr3:47067200-47076000	Weak transcription	K562	blood
34	chr3:47067400-47076000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr3:47069000-47079000	Strong transcription	Dnd41	blood
36	chr3:47069400-47079000	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr3:47069400-47079000	Strong transcription	Fetal Thymus	thymus
38	chr3:47069600-47079000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr3:47069600-47088200	Strong transcription	Liver	Liver
40	chr3:47069600-47088200	Strong transcription	Fetal Intestine Large	intestine
41	chr3:47069600-47089000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr3:47069800-47079000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr3:47069800-47086600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr3:47070200-47075400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr3:47070200-47080600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr3:47070400-47076000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr3:47070400-47079000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr3:47070400-47079000	Weak transcription	Fetal Heart	heart
49	chr3:47070400-47089000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr3:47070600-47075800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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