Variant report

Variant	rs6780994
Chromosome Location	chr3:47070755-47070756
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:47069157..47071799-chr3:47073550..47075911,2	K562	blood:
2	chr3:47066773..47068763-chr3:47068912..47071428,2	K562	blood:

Extended variants
information (count: 162 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:157)

rs_ID	r²[population]
rs1024036	1.00[EUR][1000 genomes]
rs10461017	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10461019	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10865945	1.00[EUR][1000 genomes]
rs11130108	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[AFR][1000 genomes];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	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11713537	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11922925	1.00[EUR][1000 genomes]
rs11928558	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]
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	1.00[EUR][1000 genomes]
rs1378818	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1463394	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[EUR][1000 genomes]
rs1814564	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1869870	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[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[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2385869	1.00[AMR][1000 genomes]
rs28735306	1.00[EUR][1000 genomes]
rs2891887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2891893	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[EUR][1000 genomes]
rs4282092	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4289375	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4324490	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4373094	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	0.83[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	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	0.89[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	0.89[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]
rs4683283	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4683284	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4683285	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4683286	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[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4683291	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	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6442042	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6442043	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6442044	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6442047	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	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]
rs6785462	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[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	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73831482	1.00[EUR][1000 genomes]
rs7615774	1.00[EUR][1000 genomes]
rs7621530	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7624549	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7625011	0.89[AMR][1000 genomes]
rs7630154	1.00[EUR][1000 genomes]
rs7630904	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7638549	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7639121	1.00[EUR][1000 genomes]
rs7643150	1.00[EUR][1000 genomes]
rs7643868	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7644382	1.00[EUR][1000 genomes]
rs7646076	1.00[EUR][1000 genomes]
rs7649413	1.00[EUR][1000 genomes]
rs7649941	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7650142	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[EUR][1000 genomes]
rs936177	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	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs936181	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs936182	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs936185	1.00[EUR][1000 genomes]
rs936186	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	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: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	chr3:47059800-47073000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr3:47060600-47073800	Weak transcription	Lung	lung
3	chr3:47061000-47076200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr3:47061000-47079000	Weak transcription	Fetal Brain Male	brain
5	chr3:47061200-47072400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr3:47061200-47076000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr3:47061200-47083000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr3:47061400-47073600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr3:47061400-47074600	Weak transcription	Hela-S3	cervix
10	chr3:47061400-47076000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr3:47061400-47076200	Weak transcription	HSMMtube	muscle
12	chr3:47061800-47074200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr3:47061800-47074600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr3:47062000-47071800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr3:47062000-47075400	Weak transcription	A549	lung
16	chr3:47062200-47073400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr3:47062200-47073400	Weak transcription	GM12878-XiMat	blood
18	chr3:47062200-47075000	Weak transcription	Brain Germinal Matrix	brain
19	chr3:47062200-47075400	Weak transcription	Aorta	Aorta
20	chr3:47062200-47076000	Weak transcription	Fetal Kidney	kidney
21	chr3:47062200-47077800	Weak transcription	Colonic Mucosa	Colon
22	chr3:47062400-47074800	Weak transcription	HUVEC	blood vessel
23	chr3:47062800-47072400	Weak transcription	HSMM	muscle
24	chr3:47062800-47075400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr3:47062800-47076400	Weak transcription	Fetal Brain Female	brain
26	chr3:47063200-47079000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr3:47064000-47073800	Weak transcription	Thymus	Thymus
28	chr3:47064400-47071000	Weak transcription	Fetal Lung	lung
29	chr3:47064400-47076600	Weak transcription	Psoas Muscle	Psoas
30	chr3:47064400-47079000	Weak transcription	Pancreas	Pancrea
31	chr3:47064400-47079000	Weak transcription	Right Ventricle	heart
32	chr3:47064600-47073000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr3:47064600-47074200	Weak transcription	Adipose Nuclei	Adipose
34	chr3:47064600-47074600	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr3:47064600-47074600	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr3:47064600-47074800	Weak transcription	Ovary	ovary
37	chr3:47064600-47075400	Weak transcription	NHLF	lung
38	chr3:47064600-47076400	Weak transcription	Small Intestine	intestine
39	chr3:47064800-47071200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr3:47064800-47076600	Weak transcription	Gastric	stomach
41	chr3:47065000-47077000	Weak transcription	Stomach Mucosa	stomach
42	chr3:47066800-47074600	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr3:47066800-47074600	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr3:47066800-47075600	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr3:47066800-47075800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr3:47066800-47076000	Weak transcription	Brain Anterior Caudate	brain
47	chr3:47066800-47076000	Weak transcription	NHDF-Ad	bronchial
48	chr3:47066800-47076600	Weak transcription	Esophagus	oesophagus
49	chr3:47066800-47079000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr3:47067000-47072400	Weak transcription	Brain Cingulate Gyrus	brain

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