Variant report

Variant	rs4908963
Chromosome Location	chr3:17758260-17758261
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	chr3:17756543..17761197-chr3:17782233..17784855,6	MCF-7	breast:
2	chr3:17748459..17751783-chr3:17756414..17759059,3	K562	blood:

Variant related genes	Relation type
ENSG00000131374	Chromatin interaction

Extended variants
information (count: 179 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:176)

rs_ID	r²[population]
rs10433561	0.80[EUR][1000 genomes]
rs10510477	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10510478	0.85[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11128836	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11128837	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11128838	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11128839	0.84[EUR][1000 genomes]
rs11128840	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11128841	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11128842	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11128843	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11128844	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11128848	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11128849	0.81[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11128850	0.82[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11128852	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11708672	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11719266	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11719326	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11927637	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11927654	0.99[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11929111	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12487248	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12487916	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12488591	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes]
rs12490933	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12497320	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12631291	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12632570	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12634674	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12634893	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13061771	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13065637	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13069155	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13071728	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13071934	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13076724	0.82[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13079096	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13083917	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13085167	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13095571	0.83[EUR][1000 genomes]
rs13096559	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13097908	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13320647	0.85[AMR][1000 genomes]
rs34002492	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34297417	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34485427	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34487714	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34786175	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34990533	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35460334	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35642812	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35697509	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs36172181	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4128509	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4243835	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4243836	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4243837	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4243838	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4312680	0.81[YRI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4349529	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4377510	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4408889	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4431138	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4435673	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4435674	0.94[EUR][1000 genomes]
rs4444738	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4470554	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4482690	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4484221	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4488868	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4513482	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4566567	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4566568	0.94[EUR][1000 genomes]
rs4568172	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4589965	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4602424	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4611850	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4637311	1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4643736	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4908938	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4908939	0.93[EUR][1000 genomes]
rs4908940	0.94[EUR][1000 genomes]
rs4908958	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4908964	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4908965	0.81[YRI][hapmap];0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4908966	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4908967	0.85[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4908968	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4908969	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4908970	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4908971	0.81[YRI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4908972	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4908973	0.94[EUR][1000 genomes]
rs4908987	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4908992	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4909009	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4909010	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4909012	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs5014632	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55701200	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56059241	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs57309958	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61081795	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61236237	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6577616	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6577617	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6577618	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6577619	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6577622	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6577643	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6577644	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6768637	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6779834	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6780587	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6784025	1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6788190	0.89[EUR][1000 genomes]
rs6789467	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6789697	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6792422	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6795189	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6796448	0.94[EUR][1000 genomes]
rs6797952	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6803312	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6804837	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6806610	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6807020	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6809062	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6809775	0.88[EUR][1000 genomes]
rs6810235	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7427588	0.88[EUR][1000 genomes]
rs7431897	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7609916	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs7613953	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7617683	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7622878	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7627064	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7627732	0.85[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7630695	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7632240	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7633601	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7647914	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7647928	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7650617	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7651998	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7652156	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8179891	0.82[YRI][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8179983	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9310519	0.85[YRI][hapmap]
rs9310524	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9310526	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9310528	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9681232	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9681617	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9681644	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9681893	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9756494	0.85[AMR][1000 genomes]
rs9757339	0.81[YRI][hapmap];0.85[AMR][1000 genomes]
rs9812199	0.86[EUR][1000 genomes]
rs9815204	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9816920	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9821318	0.85[YRI][hapmap];0.85[AMR][1000 genomes]
rs9821955	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9823767	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9839588	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9847461	0.92[EUR][1000 genomes]
rs9847477	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9853571	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9857910	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9860854	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9867064	0.95[EUR][1000 genomes]
rs9875973	0.84[AMR][1000 genomes]
rs9880456	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9880971	0.93[EUR][1000 genomes]
rs9881089	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9881850	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013069	chr3:17560456-17783372	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv999594	chr3:17690416-17982318	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv980010	chr3:17756625-17760941	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:17752000-17762000	Weak transcription	Right Ventricle	heart
2	chr3:17755200-17759800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr3:17755200-17771800	Weak transcription	Brain Angular Gyrus	brain
4	chr3:17755400-17758400	ZNF genes & repeats	Primary T cells from cord blood	blood
5	chr3:17755400-17781600	Weak transcription	Pancreas	Pancrea
6	chr3:17756000-17759000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr3:17756200-17758400	Weak transcription	HSMMtube	muscle
8	chr3:17756200-17774600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr3:17756200-17782400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr3:17756400-17758800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr3:17756400-17759400	Weak transcription	Right Atrium	heart
12	chr3:17756400-17766800	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr3:17756400-17780600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr3:17756400-17782800	Weak transcription	Aorta	Aorta
15	chr3:17756600-17761600	Weak transcription	Gastric	stomach
16	chr3:17756600-17767200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr3:17756600-17767400	Weak transcription	Fetal Kidney	kidney
18	chr3:17756600-17767400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr3:17756600-17767600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr3:17756600-17771800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr3:17756600-17782200	Weak transcription	HSMM	muscle
22	chr3:17756800-17759200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr3:17756800-17781600	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr3:17756800-17782200	Weak transcription	NHLF	lung
25	chr3:17757000-17759000	Weak transcription	Psoas Muscle	Psoas
26	chr3:17757000-17766800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr3:17757000-17767200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr3:17757000-17780600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr3:17757200-17760600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr3:17757200-17766600	Weak transcription	Liver	Liver
31	chr3:17757200-17767000	Weak transcription	A549	lung
32	chr3:17757200-17767200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr3:17757200-17767400	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr3:17757200-17767600	Weak transcription	K562	blood
35	chr3:17757200-17767800	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr3:17757200-17767800	Weak transcription	Brain Anterior Caudate	brain
37	chr3:17757200-17768000	Weak transcription	Thymus	Thymus
38	chr3:17757200-17771600	Weak transcription	HUVEC	blood vessel
39	chr3:17757200-17774400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr3:17757200-17780400	Weak transcription	Adipose Nuclei	Adipose
41	chr3:17757200-17780800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr3:17757200-17782200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr3:17757400-17762000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr3:17757400-17766800	Weak transcription	Fetal Lung	lung
45	chr3:17757400-17769400	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr3:17757400-17770600	Weak transcription	Placenta	Placenta
47	chr3:17757400-17771800	Weak transcription	Brain Hippocampus Middle	brain
48	chr3:17757400-17780400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr3:17757400-17780600	Weak transcription	Small Intestine	intestine
50	chr3:17757400-17781600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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