Variant report

Variant	rs7630904
Chromosome Location	chr3:47001828-47001829
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:47000539..47004616-chr3:47005854..47010349,8	K562	blood:
2	chr3:47000442..47004800-chr3:47015859..47022252,7	K562	blood:
3	chr3:47000992..47003826-chr3:47019439..47023758,5	MCF-7	breast:
4	chr3:46979541..46981499-chr3:47001280..47002981,2	K562	blood:
5	chr3:46973841..46975600-chr3:47001098..47002983,2	MCF-7	breast:
6	chr3:46987457..46990723-chr3:46999774..47002993,3	MCF-7	breast:
7	chr3:46971047..46973675-chr3:47000415..47002568,2	MCF-7	breast:
8	chr3:46994661..46997196-chr3:47000542..47003538,2	MCF-7	breast:
9	chr3:47000243..47004408-chr3:47018008..47023852,10	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000160799	Chromatin interaction
ENSG00000160796	Chromatin interaction

Extended variants
information (count: 161 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:152)

rs_ID	r²[population]
rs10461017	0.88[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10461019	0.86[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10865945	1.00[EUR][1000 genomes]
rs11130108	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11130109	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11706212	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11708257	0.86[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11709693	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11709876	0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11713537	0.86[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11922925	1.00[EUR][1000 genomes]
rs11928558	0.83[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12330516	1.00[EUR][1000 genomes]
rs12487763	0.82[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12488371	1.00[EUR][1000 genomes]
rs12631730	0.82[YRI][hapmap]
rs13062185	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13062516	0.80[AFR][1000 genomes]
rs13074884	0.83[AFR][1000 genomes]
rs13078181	1.00[EUR][1000 genomes]
rs13079416	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13082531	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13323092	1.00[EUR][1000 genomes]
rs1378818	0.88[YRI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1463394	0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1466272	0.87[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1466273	0.88[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1466274	0.88[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1473382	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1473384	1.00[EUR][1000 genomes]
rs1473385	1.00[EUR][1000 genomes]
rs1563431	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1563432	1.00[EUR][1000 genomes]
rs1814564	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1869870	0.82[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1874264	1.00[EUR][1000 genomes]
rs1979736	1.00[EUR][1000 genomes]
rs2124509	0.88[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2124510	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2350642	1.00[EUR][1000 genomes]
rs2385863	1.00[EUR][1000 genomes]
rs2385868	0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2385869	0.88[YRI][hapmap];0.89[AMR][1000 genomes]
rs2385872	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs28735306	1.00[EUR][1000 genomes]
rs2891887	0.89[AMR][1000 genomes]
rs2891893	0.96[YRI][hapmap];0.91[AFR][1000 genomes]
rs34147581	1.00[EUR][1000 genomes]
rs35366910	1.00[EUR][1000 genomes]
rs4018904	0.82[YRI][hapmap];1.00[EUR][1000 genomes]
rs4282092	0.86[YRI][hapmap];1.00[EUR][1000 genomes]
rs4289375	0.96[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4324490	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4373094	0.88[YRI][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4378998	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4389512	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4450857	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4478107	0.82[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4522803	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4525902	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4543047	0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4682828	1.00[EUR][1000 genomes]
rs4682832	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4682833	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4682834	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4682835	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4682836	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4682838	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4682841	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4682843	0.87[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4682846	1.00[EUR][1000 genomes]
rs4682847	1.00[EUR][1000 genomes]
rs4683277	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4683279	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4683282	0.95[YRI][hapmap]
rs4683283	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4683284	0.86[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4683285	0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4683286	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4683288	1.00[EUR][1000 genomes]
rs4683289	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4683290	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4683291	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4683292	0.91[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4683293	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4683303	1.00[EUR][1000 genomes]
rs6442041	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6442042	0.96[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6442043	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6442044	0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6442047	0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6442048	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6442062	1.00[EUR][1000 genomes]
rs6442063	1.00[EUR][1000 genomes]
rs6766676	0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6767868	1.00[EUR][1000 genomes]
rs6768169	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6775797	1.00[EUR][1000 genomes]
rs6780994	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6785462	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6804732	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6806521	0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.89[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	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73831482	1.00[EUR][1000 genomes]
rs7615774	1.00[EUR][1000 genomes]
rs7621530	0.84[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7624549	0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7625011	0.95[YRI][hapmap]
rs7627241	0.81[AFR][1000 genomes]
rs7630154	0.83[YRI][hapmap];1.00[EUR][1000 genomes]
rs7638549	0.86[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7641494	1.00[EUR][1000 genomes]
rs7643150	1.00[EUR][1000 genomes]
rs7643868	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7644382	1.00[EUR][1000 genomes]
rs7646076	0.96[YRI][hapmap];0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7649941	0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7650142	0.95[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7652492	1.00[EUR][1000 genomes]
rs936173	1.00[EUR][1000 genomes]
rs936177	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs936178	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs936179	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs936180	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs936181	0.91[YRI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs936182	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs936185	1.00[EUR][1000 genomes]
rs936186	0.83[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9637426	0.81[AMR][1000 genomes]
rs9810881	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9812407	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	1.00[EUR][1000 genomes]
rs9869489	1.00[EUR][1000 genomes]
rs9878813	1.00[EUR][1000 genomes]
rs9883152	1.00[EUR][1000 genomes]
rs9883909	1.00[EUR][1000 genomes]
rs9990284	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv536558	chr3:46706571-47024756	Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv915922	chr3:46768104-47009805	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	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
4	nsv3800	chr3:46961648-47007241	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1012682	chr3:46973552-47016357	Genic enhancers Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	nsv1009396	chr3:46994991-47048166	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 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	chr3:46985800-47004400	Enhancers	Primary T helper cells fromperipheralblood	blood
2	chr3:46988000-47003200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr3:46990000-47006800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr3:46993400-47003600	Enhancers	Fetal Heart	heart
5	chr3:46993600-47003200	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr3:46994200-47002200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr3:46994200-47003200	Genic enhancers	Fetal Intestine Small	intestine
8	chr3:46995400-47002200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
9	chr3:46995400-47003200	Enhancers	Fetal Intestine Large	intestine
10	chr3:46995400-47003400	Enhancers	Primary hematopoietic stem cells	blood
11	chr3:46995600-47004200	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr3:46995800-47002400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr3:46995800-47003200	Enhancers	Primary B cells from cord blood	blood
14	chr3:46995800-47005200	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr3:46996000-47004200	Enhancers	Primary T cells from cord blood	blood
16	chr3:46996000-47004600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr3:46996000-47004800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr3:46996000-47007200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr3:46996400-47005000	Genic enhancers	Primary B cells from peripheral blood	blood
20	chr3:46996600-47002600	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr3:46996600-47003600	Enhancers	Stomach Mucosa	stomach
22	chr3:46998400-47002200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr3:46998400-47003200	Genic enhancers	Dnd41	blood
24	chr3:46998600-47003200	Enhancers	Rectal Smooth Muscle	rectum
25	chr3:46999000-47003400	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr3:46999200-47002400	Weak transcription	Aorta	Aorta
27	chr3:46999200-47003200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr3:46999200-47003600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr3:46999200-47004400	Enhancers	Liver	Liver
30	chr3:46999600-47002000	Weak transcription	A549	lung
31	chr3:46999600-47003600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr3:46999800-47002200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr3:46999800-47003200	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr3:46999800-47003200	Genic enhancers	Fetal Thymus	thymus
35	chr3:46999800-47003200	Enhancers	Ovary	ovary
36	chr3:46999800-47003200	Enhancers	Pancreas	Pancrea
37	chr3:46999800-47003400	Enhancers	Brain Substantia Nigra	brain
38	chr3:46999800-47004800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr3:47000000-47002000	Enhancers	Psoas Muscle	Psoas
40	chr3:47000000-47002000	Enhancers	Right Ventricle	heart
41	chr3:47000000-47002200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr3:47000000-47002400	Enhancers	Small Intestine	intestine
43	chr3:47000000-47002600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr3:47000000-47002600	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
45	chr3:47000000-47003000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr3:47000000-47003000	Enhancers	Placenta	Placenta
47	chr3:47000000-47003200	Enhancers	Brain Angular Gyrus	brain
48	chr3:47000000-47003200	Enhancers	Brain Hippocampus Middle	brain
49	chr3:47000000-47003200	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr3:47000000-47003200	Enhancers	Left Ventricle	heart

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