Variant report

Variant	rs4489969
Chromosome Location	chr15:76238785-76238786
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	chr15:76238474..76241248-chr15:76241585..76243858,2	K562	blood:

Variant related genes	Relation type
ENSG00000260685	Chromatin interaction

Extended variants
information (count: 174 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:169)

rs_ID	r²[population]
rs1039547	1.00[EUR][1000 genomes]
rs13379955	1.00[EUR][1000 genomes]
rs1394122	1.00[EUR][1000 genomes]
rs1498196	1.00[EUR][1000 genomes]
rs1498197	1.00[EUR][1000 genomes]
rs1498198	1.00[EUR][1000 genomes]
rs1503955	1.00[EUR][1000 genomes]
rs1532783	1.00[EUR][1000 genomes]
rs1562403	1.00[EUR][1000 genomes]
rs1695365	1.00[EUR][1000 genomes]
rs16967747	1.00[EUR][1000 genomes]
rs170830	1.00[EUR][1000 genomes]
rs1874955	1.00[EUR][1000 genomes]
rs1874956	1.00[EUR][1000 genomes]
rs1910510	1.00[EUR][1000 genomes]
rs1976328	1.00[EUR][1000 genomes]
rs2133099	1.00[EUR][1000 genomes]
rs2133408	1.00[EUR][1000 genomes]
rs2133409	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2133410	1.00[EUR][1000 genomes]
rs2405578	1.00[EUR][1000 genomes]
rs2441928	1.00[EUR][1000 genomes]
rs2454209	1.00[EUR][1000 genomes]
rs2454212	1.00[EUR][1000 genomes]
rs2454470	1.00[EUR][1000 genomes]
rs2454472	1.00[EUR][1000 genomes]
rs2455897	1.00[EUR][1000 genomes]
rs2460795	1.00[EUR][1000 genomes]
rs2460796	1.00[EUR][1000 genomes]
rs2460801	1.00[EUR][1000 genomes]
rs2469038	1.00[EUR][1000 genomes]
rs2469040	1.00[EUR][1000 genomes]
rs2593275	1.00[EUR][1000 genomes]
rs2593281	1.00[EUR][1000 genomes]
rs2593302	1.00[EUR][1000 genomes]
rs2604405	1.00[EUR][1000 genomes]
rs2648437	1.00[EUR][1000 genomes]
rs2655126	1.00[EUR][1000 genomes]
rs2655137	1.00[EUR][1000 genomes]
rs2947239	1.00[EUR][1000 genomes]
rs2959851	1.00[EUR][1000 genomes]
rs334923	1.00[EUR][1000 genomes]
rs334937	1.00[EUR][1000 genomes]
rs334939	1.00[EUR][1000 genomes]
rs334940	1.00[EUR][1000 genomes]
rs334941	1.00[EUR][1000 genomes]
rs334951	1.00[EUR][1000 genomes]
rs335673	1.00[EUR][1000 genomes]
rs335674	1.00[EUR][1000 genomes]
rs335675	0.85[EUR][1000 genomes]
rs335676	0.85[EUR][1000 genomes]
rs335678	1.00[EUR][1000 genomes]
rs335679	1.00[EUR][1000 genomes]
rs335683	1.00[EUR][1000 genomes]
rs335684	1.00[EUR][1000 genomes]
rs335687	1.00[EUR][1000 genomes]
rs335693	0.85[EUR][1000 genomes]
rs335694	1.00[EUR][1000 genomes]
rs335695	1.00[EUR][1000 genomes]
rs335700	1.00[EUR][1000 genomes]
rs335701	1.00[EUR][1000 genomes]
rs335710	0.85[EUR][1000 genomes]
rs335713	1.00[EUR][1000 genomes]
rs335717	1.00[EUR][1000 genomes]
rs335724	1.00[EUR][1000 genomes]
rs335725	1.00[EUR][1000 genomes]
rs335726	1.00[EUR][1000 genomes]
rs335728	1.00[EUR][1000 genomes]
rs335729	1.00[EUR][1000 genomes]
rs335730	1.00[EUR][1000 genomes]
rs335731	1.00[EUR][1000 genomes]
rs335732	1.00[EUR][1000 genomes]
rs335733	1.00[EUR][1000 genomes]
rs4482249	1.00[EUR][1000 genomes]
rs4886750	0.85[EUR][1000 genomes]
rs55665712	1.00[EUR][1000 genomes]
rs55719276	1.00[EUR][1000 genomes]
rs55782145	1.00[EUR][1000 genomes]
rs55828994	1.00[EUR][1000 genomes]
rs56139080	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56167836	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56173902	1.00[EUR][1000 genomes]
rs56218266	1.00[EUR][1000 genomes]
rs57011816	1.00[EUR][1000 genomes]
rs57127155	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57141410	1.00[EUR][1000 genomes]
rs57429900	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57737646	1.00[EUR][1000 genomes]
rs57968453	1.00[EUR][1000 genomes]
rs57971067	1.00[EUR][1000 genomes]
rs57973358	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58044283	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58170668	0.92[EUR][1000 genomes]
rs58399164	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58717562	1.00[EUR][1000 genomes]
rs58789594	1.00[EUR][1000 genomes]
rs59143042	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59690620	1.00[EUR][1000 genomes]
rs59819402	1.00[EUR][1000 genomes]
rs59839117	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60088262	1.00[EUR][1000 genomes]
rs60155009	1.00[EUR][1000 genomes]
rs60191258	1.00[EUR][1000 genomes]
rs60817295	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60846313	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61240117	1.00[EUR][1000 genomes]
rs61521312	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs62027568	1.00[EUR][1000 genomes]
rs7168988	1.00[EUR][1000 genomes]
rs7173697	1.00[EUR][1000 genomes]
rs7174280	1.00[EUR][1000 genomes]
rs7174365	1.00[EUR][1000 genomes]
rs7175758	1.00[EUR][1000 genomes]
rs7180064	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7181550	1.00[EUR][1000 genomes]
rs7182720	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74024005	1.00[EUR][1000 genomes]
rs74024006	1.00[EUR][1000 genomes]
rs74024007	1.00[EUR][1000 genomes]
rs74024009	1.00[EUR][1000 genomes]
rs74024011	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024014	1.00[EUR][1000 genomes]
rs74024015	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024016	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024017	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024020	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024021	0.83[EUR][1000 genomes]
rs74024022	1.00[EUR][1000 genomes]
rs74024023	1.00[EUR][1000 genomes]
rs74024028	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74024029	1.00[EUR][1000 genomes]
rs74024030	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74024032	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74024035	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74024038	1.00[EUR][1000 genomes]
rs74024039	1.00[EUR][1000 genomes]
rs74024040	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74024041	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74024042	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74024043	1.00[EUR][1000 genomes]
rs74024044	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74024045	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74024047	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74024048	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74024049	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024051	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74024052	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74024053	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74024059	1.00[EUR][1000 genomes]
rs74024060	1.00[EUR][1000 genomes]
rs74024063	1.00[EUR][1000 genomes]
rs74024064	1.00[EUR][1000 genomes]
rs74024065	1.00[EUR][1000 genomes]
rs74024071	1.00[EUR][1000 genomes]
rs74024073	1.00[EUR][1000 genomes]
rs8025372	1.00[EUR][1000 genomes]
rs8028084	1.00[EUR][1000 genomes]
rs8028766	1.00[EUR][1000 genomes]
rs8030469	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8030948	0.85[EUR][1000 genomes]
rs8031263	1.00[EUR][1000 genomes]
rs8033005	1.00[EUR][1000 genomes]
rs8034430	1.00[EUR][1000 genomes]
rs8035611	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8036952	1.00[EUR][1000 genomes]
rs8038729	0.92[EUR][1000 genomes]
rs9672219	1.00[EUR][1000 genomes]
rs9672952	0.81[AFR][1000 genomes]
rs974718	1.00[EUR][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	nsv531903	chr15:75889302-76342128	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv1053717	chr15:76196674-76314542	Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1040053	chr15:76197988-76314542	Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv904398	chr15:76220285-76359055	Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv569998	chr15:76232605-76550938	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76211400-76240200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr15:76217200-76252000	Weak transcription	Pancreas	Pancrea
3	chr15:76228200-76239600	Weak transcription	Fetal Brain Female	brain
4	chr15:76230600-76239400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr15:76230600-76244400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr15:76230800-76246400	Weak transcription	Hela-S3	cervix
7	chr15:76231000-76239000	Weak transcription	Fetal Brain Male	brain
8	chr15:76231400-76239400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr15:76232200-76239400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr15:76232400-76239200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr15:76232800-76239400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr15:76236000-76238800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr15:76237800-76240200	Enhancers	HSMMtube	muscle
14	chr15:76238000-76240400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr15:76238000-76240400	Enhancers	Osteobl	bone
16	chr15:76238200-76239200	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr15:76238200-76240200	Enhancers	HSMM	muscle
18	chr15:76238200-76240600	Enhancers	HMEC	breast
19	chr15:76238200-76240600	Enhancers	NHEK	skin
20	chr15:76238400-76238800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr15:76238400-76238800	Flanking Active TSS	NH-A	brain
22	chr15:76238400-76240400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr15:76238400-76240600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr15:76238600-76239000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr15:76238600-76239400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr15:76238600-76240000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr15:76238600-76240000	Enhancers	NHLF	lung

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