Variant report

Variant	rs72894503
Chromosome Location	chr2:183997247-183997248
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:183986925..183992876-chr2:183993206..183999121,12	MCF-7	breast:
2	chr2:183993148..183997761-chr2:183998513..184002569,6	K562	blood:
3	chr2:183989133..183992574-chr2:183994168..183997354,4	MCF-7	breast:
4	chr2:183996075..183999033-chr2:184006956..184008661,2	MCF-7	breast:
5	chr2:183902664..183904534-chr2:183994708..183997463,2	K562	blood:
6	chr2:183900662..183904164-chr2:183994945..183997463,3	K562	blood:

Variant related genes	Relation type
ENSG00000163002	Chromatin interaction
ENSG00000061676	Chromatin interaction

Extended variants
information (count: 152 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:145)

rs_ID	r²[population]
rs10497620	0.83[AFR][1000 genomes]
rs1473614	1.00[EUR][1000 genomes]
rs1473615	1.00[EUR][1000 genomes]
rs1473616	1.00[EUR][1000 genomes]
rs17706149	0.91[AFR][1000 genomes]
rs1997486	0.91[AFR][1000 genomes]
rs2675053	0.92[EUR][1000 genomes]
rs2675054	1.00[EUR][1000 genomes]
rs2705715	1.00[EUR][1000 genomes]
rs2705718	1.00[EUR][1000 genomes]
rs2705719	1.00[EUR][1000 genomes]
rs2705720	1.00[EUR][1000 genomes]
rs2705721	1.00[EUR][1000 genomes]
rs35142583	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4666620	0.86[AFR][1000 genomes]
rs4666890	0.91[AFR][1000 genomes]
rs55657876	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55678810	0.86[AMR][1000 genomes]
rs55696219	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55707150	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55764044	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55957340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56152140	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56182353	0.88[EUR][1000 genomes]
rs56402172	0.83[AFR][1000 genomes]
rs6707761	0.87[AMR][1000 genomes]
rs6712479	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6722457	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6743323	0.88[EUR][1000 genomes]
rs6750392	0.88[EUR][1000 genomes]
rs72886518	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72886527	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72886538	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72886541	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72886545	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72886547	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72886553	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72886557	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72886568	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72886577	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72886596	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72886600	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72888431	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72888449	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72888452	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72888461	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72888464	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72888472	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72888474	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72888478	0.86[EUR][1000 genomes]
rs72888481	0.86[EUR][1000 genomes]
rs72888488	0.86[EUR][1000 genomes]
rs72888489	0.86[EUR][1000 genomes]
rs72890307	0.88[EUR][1000 genomes]
rs72890345	0.97[EUR][1000 genomes]
rs72890349	0.90[EUR][1000 genomes]
rs72890352	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72890353	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72890370	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72890384	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72890392	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72890398	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72892604	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72892631	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72892638	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72892656	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72892678	0.83[AFR][1000 genomes]
rs72892682	0.86[AFR][1000 genomes]
rs72892683	0.86[AFR][1000 genomes]
rs72892686	0.83[AFR][1000 genomes]
rs72892687	0.83[AFR][1000 genomes]
rs72892688	0.83[AFR][1000 genomes]
rs72892689	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72892690	0.83[AFR][1000 genomes]
rs72892694	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72892702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72894513	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72894514	0.91[AFR][1000 genomes]
rs72894523	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72894527	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72894533	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72894535	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72894537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72894539	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72894544	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72894546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72894558	0.91[AFR][1000 genomes]
rs72894570	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72894585	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72894593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72894596	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896508	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896517	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896518	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896520	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896524	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896528	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896534	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896555	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896556	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896558	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896559	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896560	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896581	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896586	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72896596	0.91[AFR][1000 genomes]
rs72896598	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896599	0.91[AFR][1000 genomes]
rs72898507	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898513	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898514	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898516	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898517	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898522	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898525	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898529	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898532	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898535	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898538	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72898539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898542	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898545	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72898548	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898555	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898558	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898562	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72898566	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898569	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898573	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898574	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898578	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72898581	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898584	0.86[EUR][1000 genomes]
rs72898600	0.86[AMR][1000 genomes]
rs72900543	0.86[AMR][1000 genomes]
rs72900775	0.87[AMR][1000 genomes]
rs72900780	0.87[AMR][1000 genomes]
rs7562034	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7565260	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7567370	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7577407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7591252	0.83[AFR][1000 genomes]
rs7597417	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1005281	chr2:183803173-184093877	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv875485	chr2:183827018-184195265	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1010799	chr2:183855680-184244721	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv536072	chr2:183855680-184244721	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv1003519	chr2:183885544-184015868	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	esv2763287	chr2:183939173-184037893	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183990000-184003600	Weak transcription	Left Ventricle	heart
2	chr2:183990000-184008600	Weak transcription	Esophagus	oesophagus
3	chr2:183990000-184008800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:183990000-184024400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr2:183990000-184050000	Weak transcription	Aorta	Aorta
6	chr2:183990200-184008200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:183990200-184014200	Weak transcription	HSMMtube	muscle
8	chr2:183990200-184018800	Weak transcription	Placenta	Placenta
9	chr2:183990200-184036400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:183990600-184010200	Weak transcription	Brain Substantia Nigra	brain
11	chr2:183990600-184028600	Weak transcription	Colonic Mucosa	Colon
12	chr2:183990800-184000000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr2:183990800-184025800	Weak transcription	Fetal Kidney	kidney
14	chr2:183990800-184031000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr2:183991000-184008000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr2:183991000-184008400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:183991000-184013400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:183991000-184018400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:183991000-184018400	Weak transcription	Gastric	stomach
20	chr2:183991000-184028600	Weak transcription	Right Ventricle	heart
21	chr2:183991000-184030400	Weak transcription	Brain Hippocampus Middle	brain
22	chr2:183991000-184048400	Weak transcription	Brain Angular Gyrus	brain
23	chr2:183991000-184053400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr2:183991000-184055400	Weak transcription	Brain Cingulate Gyrus	brain
25	chr2:183991200-184001400	Weak transcription	Pancreas	Pancrea
26	chr2:183991200-184008200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr2:183991200-184008400	Weak transcription	Osteobl	bone
28	chr2:183991200-184008600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr2:183991200-184008800	Weak transcription	Brain Anterior Caudate	brain
30	chr2:183991200-184011400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr2:183991200-184035400	Weak transcription	Fetal Brain Male	brain
32	chr2:183991400-183998200	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr2:183991400-184008400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr2:183991400-184034000	Weak transcription	NHLF	lung
35	chr2:183991400-184049600	Weak transcription	NHDF-Ad	bronchial
36	chr2:183991600-184003600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr2:183991600-184008400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr2:183991600-184014200	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr2:183991600-184029600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr2:183991800-183999800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr2:183991800-184008000	Weak transcription	Brain Germinal Matrix	brain
42	chr2:183991800-184008200	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr2:183992000-184008000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:183992200-183997600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr2:183992200-184008200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr2:183992400-183997400	Strong transcription	Fetal Thymus	thymus
47	chr2:183992400-184047600	Weak transcription	Hela-S3	cervix
48	chr2:183992600-183997800	Strong transcription	A549	lung
49	chr2:183992600-184005800	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr2:183992800-184008000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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