Variant report

Variant	rs2145751
Chromosome Location	chr6:36394169-36394170
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:36388375..36397373-chr6:36559893..36568556,25	K562	blood:
2	chr6:36389566..36392929-chr6:36393759..36397072,6	K562	blood:
3	chr6:36388047..36404187-chr6:36407090..36418492,47	K562	blood:
4	chr6:36392379..36394477-chr6:36445111..36447901,2	K562	blood:
5	chr6:36393812..36400727-chr6:36401208..36405433,7	K562	blood:
6	chr6:36389826..36395258-chr6:36409228..36414565,11	MCF-7	breast:
7	chr6:36388539..36397962-chr6:36560062..36566089,23	K562	blood:

Variant related genes	Relation type
ENSG00000179165	Chromatin interaction
ENSG00000112081	Chromatin interaction
ENSG00000112078	Chromatin interaction

Extended variants
information (count: 103 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs1003249	0.84[AMR][1000 genomes]
rs10484615	0.87[AMR][1000 genomes]
rs10947607	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1137628	0.87[AMR][1000 genomes]
rs11756413	0.87[AMR][1000 genomes]
rs11757842	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11759996	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1191	0.86[AMR][1000 genomes]
rs12110954	0.87[AMR][1000 genomes]
rs12181938	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12190062	0.87[AMR][1000 genomes]
rs12660899	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12663882	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1358981	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1535510	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16888552	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16888690	0.84[AMR][1000 genomes]
rs1983781	0.87[AMR][1000 genomes]
rs1985423	0.84[AMR][1000 genomes]
rs2057351	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2071810	0.87[AMR][1000 genomes]
rs2146333	0.84[AMR][1000 genomes]
rs2180929	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2239807	0.84[AMR][1000 genomes]
rs2239808	0.84[AMR][1000 genomes]
rs2267927	0.84[AMR][1000 genomes]
rs2267928	0.87[AMR][1000 genomes]
rs2267929	0.84[AMR][1000 genomes]
rs2267931	0.86[AMR][1000 genomes]
rs2267932	0.87[AMR][1000 genomes]
rs2300064	0.84[AMR][1000 genomes]
rs3752479	0.84[AMR][1000 genomes]
rs3756912	0.84[AMR][1000 genomes]
rs3798473	0.87[AMR][1000 genomes]
rs3798474	0.87[AMR][1000 genomes]
rs4598	0.87[AMR][1000 genomes]
rs4713972	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4713973	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs55829962	0.86[AMR][1000 genomes]
rs56086408	0.87[AMR][1000 genomes]
rs56763433	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57423505	0.84[AMR][1000 genomes]
rs58093537	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58153398	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs59955083	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60043926	0.81[AMR][1000 genomes]
rs6457920	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6457921	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6457923	0.87[AMR][1000 genomes]
rs67018593	0.87[AMR][1000 genomes]
rs67313027	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6899421	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6899631	0.84[AMR][1000 genomes]
rs6902473	0.84[AMR][1000 genomes]
rs6905347	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6905686	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6911877	0.87[AMR][1000 genomes]
rs6912117	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6913693	0.84[AMR][1000 genomes]
rs6917489	0.85[ASN][1000 genomes]
rs6917981	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6923337	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6926522	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6926796	0.81[AMR][1000 genomes]
rs6927896	0.84[AMR][1000 genomes]
rs6928087	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6930496	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6936942	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6941593	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73408850	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73411055	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73413258	0.87[AMR][1000 genomes]
rs73413267	0.84[AMR][1000 genomes]
rs7738604	0.87[AMR][1000 genomes]
rs7745411	0.87[AMR][1000 genomes]
rs7745437	0.80[ASN][1000 genomes]
rs7752714	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7754363	0.87[AMR][1000 genomes]
rs7767377	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7769765	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7771028	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7772524	0.87[AMR][1000 genomes]
rs7772800	0.87[AMR][1000 genomes]
rs933236	0.87[AMR][1000 genomes]
rs9462185	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9462186	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9462190	0.87[AMR][1000 genomes]
rs9470267	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9470273	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9470280	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9470289	0.87[AMR][1000 genomes]
rs9470291	0.81[AMR][1000 genomes]
rs9470293	0.87[AMR][1000 genomes]
rs9470294	0.81[AMR][1000 genomes]
rs9470295	0.84[AMR][1000 genomes]
rs9470296	0.87[AMR][1000 genomes]
rs9470297	0.87[AMR][1000 genomes]
rs9470300	0.87[AMR][1000 genomes]
rs9470302	0.87[AMR][1000 genomes]
rs9654588	0.85[ASN][1000 genomes]
rs9767243	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9767778	0.84[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv885806	chr6:36349890-36621178	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36391800-36395400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:36391800-36395400	Weak transcription	HSMM	muscle
3	chr6:36391800-36395600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr6:36391800-36395600	Weak transcription	HSMMtube	muscle
5	chr6:36391800-36397600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:36392000-36394200	Weak transcription	K562	blood
7	chr6:36392000-36394400	Weak transcription	Hela-S3	cervix
8	chr6:36392000-36395200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr6:36392000-36395200	Weak transcription	Colon Smooth Muscle	Colon
10	chr6:36392000-36395600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr6:36392000-36395600	Weak transcription	A549	lung
12	chr6:36392000-36398800	Weak transcription	Osteobl	bone
13	chr6:36392000-36399200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr6:36392000-36400000	Weak transcription	Fetal Heart	heart
15	chr6:36392000-36404200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr6:36392400-36396800	Weak transcription	Placenta	Placenta
17	chr6:36393200-36394200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr6:36393600-36394200	Enhancers	HMEC	breast
19	chr6:36393600-36394200	Enhancers	NHEK	skin
20	chr6:36393800-36394200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr6:36393800-36399600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr6:36394000-36395000	Enhancers	HepG2	liver

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