Variant report

Variant	rs4683291
Chromosome Location	chr3:46983651-46983652
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:46982362..46985242-chr3:47422135..47423747,2	MCF-7	breast:
2	chr3:46978892..46980837-chr3:46982218..46984599,2	MCF-7	breast:
3	chr3:46979332..46981029-chr3:46982923..46984725,2	MCF-7	breast:
4	chr3:46983597..46986093-chr3:46988070..46989778,2	MCF-7	breast:
5	chr3:46983607..46987334-chr3:46993451..46998407,5	K562	blood:

Variant related genes	Relation type
ENSG00000260236	Chromatin interaction
ENSG00000076201	Chromatin interaction

Extended variants
information (count: 154 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:143)

rs_ID	r²[population]
rs10461017	0.85[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10461019	0.90[ASW][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10865945	1.00[EUR][1000 genomes]
rs11130108	0.95[YRI][hapmap];0.90[AFR][1000 genomes];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	0.85[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11709693	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11709876	1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11713537	0.85[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11922925	1.00[EUR][1000 genomes]
rs11928558	0.85[YRI][hapmap];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]
rs12631730	0.90[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	0.90[YRI][hapmap];1.00[EUR][1000 genomes]
rs1378818	0.85[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1463394	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	0.81[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1466274	0.81[YRI][hapmap];0.81[AFR][1000 genomes];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[TSI][hapmap];1.00[EUR][1000 genomes]
rs1563431	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1563432	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1814564	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1869870	0.83[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1979736	1.00[EUR][1000 genomes]
rs2124509	0.85[YRI][hapmap];0.83[AFR][1000 genomes];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[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2385869	0.85[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28735306	1.00[EUR][1000 genomes]
rs2891887	1.00[AMR][1000 genomes]
rs2891893	0.89[AMR][1000 genomes]
rs34147581	1.00[EUR][1000 genomes]
rs35366910	1.00[EUR][1000 genomes]
rs4018904	1.00[TSI][hapmap];0.90[YRI][hapmap];1.00[EUR][1000 genomes]
rs4282092	1.00[TSI][hapmap];0.85[YRI][hapmap];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	0.85[YRI][hapmap];0.80[AFR][1000 genomes];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];1.00[TSI][hapmap];0.80[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4522803	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4525902	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4543047	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4682828	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	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs4682841	0.86[AFR][1000 genomes];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	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4683279	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4683282	1.00[TSI][hapmap]
rs4683283	1.00[ASW][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4683284	0.90[ASW][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4683285	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4683286	0.95[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4683288	1.00[EUR][1000 genomes]
rs4683289	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4683290	1.00[ASW][hapmap];0.94[LWK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4683292	1.00[TSI][hapmap];0.81[YRI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4683293	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4683303	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs6442041	0.88[YRI][hapmap];0.83[AFR][1000 genomes];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]
rs6768169	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6775797	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6780994	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6785462	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6804732	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6806521	1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6808052	1.00[ASW][hapmap];0.87[LWK][hapmap];1.00[TSI][hapmap];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	0.85[YRI][hapmap];0.86[AFR][1000 genomes];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	0.89[YRI][hapmap];1.00[EUR][1000 genomes]
rs7630904	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7638549	0.90[ASW][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7641494	1.00[EUR][1000 genomes]
rs7643868	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7644382	0.90[YRI][hapmap];1.00[EUR][1000 genomes]
rs7646076	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]
rs936173	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs936177	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs936178	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[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs936182	1.00[ASW][hapmap];0.94[LWK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs936185	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs936186	0.85[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9810881	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9812407	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[TSI][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs9833500	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs9836801	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	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9869489	1.00[EUR][1000 genomes]
rs9878813	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9883152	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9883909	1.00[EUR][1000 genomes]
rs9990284	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007449	chr3:46652343-46986578	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv536554	chr3:46652343-46986578	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	nsv460526	chr3:46935527-47001350	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	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
11	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46967400-46984400	Genic enhancers	Fetal Intestine Small	intestine
2	chr3:46970800-46984200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:46971200-46988400	Strong transcription	Dnd41	blood
4	chr3:46973800-46985600	Weak transcription	Fetal Kidney	kidney
5	chr3:46974000-46988600	Strong transcription	Primary T cells from cord blood	blood
6	chr3:46975000-46986000	Strong transcription	Thymus	Thymus
7	chr3:46975800-46984800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr3:46976000-46985600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr3:46976200-46990200	Weak transcription	Fetal Brain Male	brain
10	chr3:46977000-47000000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:46977600-46984200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr3:46977800-46984400	Genic enhancers	Pancreas	Pancrea
13	chr3:46978000-46984200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:46978000-46990600	Strong transcription	Fetal Stomach	stomach
15	chr3:46978200-46984400	Strong transcription	Hela-S3	cervix
16	chr3:46978200-46985400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr3:46978400-46984000	Strong transcription	Fetal Brain Female	brain
18	chr3:46978400-46984400	Enhancers	Fetal Heart	heart
19	chr3:46978400-46984600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr3:46978600-46983800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr3:46978800-46984600	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr3:46979000-46985600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr3:46979200-46984000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr3:46979200-46984400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr3:46979200-46984400	Weak transcription	NH-A	brain
26	chr3:46979400-46984400	Strong transcription	HSMM	muscle
27	chr3:46979400-46989200	Weak transcription	NHDF-Ad	bronchial
28	chr3:46979600-46994600	Genic enhancers	Fetal Thymus	thymus
29	chr3:46979800-46984200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr3:46979800-46984600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr3:46980200-46984000	Genic enhancers	A549	lung
32	chr3:46980200-46990800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr3:46980600-46985800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr3:46980800-46983800	Genic enhancers	Right Ventricle	heart
35	chr3:46981000-46984200	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr3:46981000-46984400	Genic enhancers	Gastric	stomach
37	chr3:46981200-46984000	Strong transcription	Fetal Muscle Leg	muscle
38	chr3:46981400-46984200	Strong transcription	K562	blood
39	chr3:46981600-46986800	Weak transcription	Primary hematopoietic stem cells	blood
40	chr3:46981800-46983800	Strong transcription	GM12878-XiMat	blood
41	chr3:46981800-46985200	Weak transcription	Brain Cingulate Gyrus	brain
42	chr3:46982000-46984200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr3:46982200-46983800	Weak transcription	Fetal Lung	lung
44	chr3:46982200-46984200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr3:46982200-46984400	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr3:46982200-46984800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr3:46982200-46985000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr3:46982200-46987800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr3:46982200-46989000	Weak transcription	HSMMtube	muscle
50	chr3:46982400-46984200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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