Variant report

Variant	rs6810948
Chromosome Location	chr4:56351192-56351193
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:56343201..56345682-chr4:56350913..56353654,2	K562	blood:

Variant related genes	Relation type
ENSG00000134852	Chromatin interaction

Extended variants
information (count: 105 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs10002541	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10005989	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10009593	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10016506	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10034433	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10462035	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11133379	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11133382	0.88[EUR][1000 genomes]
rs11133383	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11133394	0.90[ASN][1000 genomes]
rs11133399	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11726609	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11733864	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11735267	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11931061	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11939815	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11947476	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11947623	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12646078	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12647034	0.82[EUR][1000 genomes]
rs13102385	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13121235	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13128582	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13138697	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13152650	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1522106	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1522107	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1522108	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1522110	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1522111	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17085889	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1873092	0.82[AMR][1000 genomes]
rs1965467	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1980273	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2140077	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2177129	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2412646	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2412647	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28445925	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28448438	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28463765	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28469692	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28514423	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28525309	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28572116	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28582059	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28670674	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28673496	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28790098	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35767091	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3736544	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3736545	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3805147	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3805152	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3805154	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3805157	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3817444	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3828481	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4371676	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4580704	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs473005	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs480479	0.80[EUR][1000 genomes]
rs4864998	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4865008	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs564762	0.80[EUR][1000 genomes]
rs576779	0.80[EUR][1000 genomes]
rs59804446	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60797008	0.85[ASN][1000 genomes]
rs62303714	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62309727	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6554286	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6811520	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6812042	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6815516	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6817267	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6817663	0.81[AMR][1000 genomes]
rs6819660	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6824057	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6824955	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6825994	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6832769	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6834676	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6837710	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6839788	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6846427	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6850524	0.90[ASN][1000 genomes]
rs6851838	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6853192	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs726967	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7667849	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7668147	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7670225	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7673908	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7677526	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7684810	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9312662	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9684708	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9997288	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9998038	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9998146	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][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	esv3328582	chr4:56164136-56486156	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv999477	chr4:56219035-56397180	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv537101	chr4:56219035-56397180	Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2755990	chr4:56317136-57143037	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	nsv10496	chr4:56336946-56841137	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56293000-56354800	Weak transcription	Aorta	Aorta
2	chr4:56302400-56375600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:56304600-56365600	Weak transcription	Spleen	Spleen
4	chr4:56304800-56375800	Weak transcription	Pancreas	Pancrea
5	chr4:56306000-56361200	Weak transcription	Stomach Mucosa	stomach
6	chr4:56314400-56356400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr4:56314400-56377200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr4:56315400-56357000	Weak transcription	Hela-S3	cervix
9	chr4:56318600-56363400	Weak transcription	HepG2	liver
10	chr4:56318800-56352400	Weak transcription	K562	blood
11	chr4:56318800-56358400	Weak transcription	Right Ventricle	heart
12	chr4:56332600-56365600	Weak transcription	Esophagus	oesophagus
13	chr4:56332600-56377800	Weak transcription	Gastric	stomach
14	chr4:56336000-56376800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr4:56337400-56377000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr4:56337600-56354600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr4:56341000-56354800	Weak transcription	Fetal Stomach	stomach
18	chr4:56341000-56363600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr4:56341200-56356400	Weak transcription	Thymus	Thymus
20	chr4:56341400-56364200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr4:56341400-56365600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:56341400-56385600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr4:56341600-56352600	Weak transcription	Primary B cells from cord blood	blood
24	chr4:56341600-56354400	Weak transcription	Brain Angular Gyrus	brain
25	chr4:56341600-56354400	Weak transcription	Colon Smooth Muscle	Colon
26	chr4:56341600-56354400	Weak transcription	Fetal Thymus	thymus
27	chr4:56341600-56354800	Weak transcription	Brain Anterior Caudate	brain
28	chr4:56341600-56355600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr4:56341600-56357600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr4:56341600-56358200	Weak transcription	Small Intestine	intestine
31	chr4:56341600-56358600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr4:56341600-56365800	Weak transcription	Lung	lung
33	chr4:56341600-56369200	Weak transcription	HSMMtube	muscle
34	chr4:56341600-56369400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr4:56341600-56377000	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr4:56341800-56353400	Weak transcription	Fetal Muscle Leg	muscle
37	chr4:56341800-56354200	Weak transcription	Fetal Kidney	kidney
38	chr4:56341800-56354400	Weak transcription	Colonic Mucosa	Colon
39	chr4:56341800-56360400	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr4:56341800-56361000	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr4:56341800-56365600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr4:56341800-56366600	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr4:56341800-56376400	Weak transcription	Brain Substantia Nigra	brain
44	chr4:56341800-56376800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr4:56342200-56353600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr4:56342200-56365600	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr4:56342200-56377600	Weak transcription	Stomach Smooth Muscle	stomach
48	chr4:56342400-56353400	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr4:56342400-56353800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr4:56342400-56354000	Weak transcription	Ovary	ovary

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