Variant report

Variant	rs72888464
Chromosome Location	chr2:183881613-183881614
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:183864377..183866340-chr2:183880546..183882680,2	K562	blood:
2	chr2:183880310..183882449-chr2:183901204..183904043,2	K562	blood:
3	chr2:183879886..183882557-chr2:183885997..183888359,2	MCF-7	breast:
4	chr2:183879865..183881833-chr2:183884149..183886571,2	K562	blood:

Variant related genes	Relation type
ENSG00000202141	Chromatin interaction
ENSG00000061676	Chromatin interaction

Extended variants
information (count: 132 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:127)

rs_ID	r²[population]
rs1473614	0.86[EUR][1000 genomes]
rs1473615	0.86[EUR][1000 genomes]
rs1473616	0.86[EUR][1000 genomes]
rs2675054	0.86[EUR][1000 genomes]
rs2705715	0.86[EUR][1000 genomes]
rs2705718	0.86[EUR][1000 genomes]
rs2705719	0.86[EUR][1000 genomes]
rs2705720	0.86[EUR][1000 genomes]
rs2705721	0.86[EUR][1000 genomes]
rs35142583	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36077496	1.00[AMR][1000 genomes]
rs55657876	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55696219	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55707150	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55764044	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55957340	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56152140	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56182353	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6707761	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6712479	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6722457	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6743323	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6750392	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72886518	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72886527	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72886538	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72886541	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72886545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72886547	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72886553	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72886557	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72886568	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72886577	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72886596	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72886600	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72888431	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72888449	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72888452	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72888461	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72888472	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72888474	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72888478	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72888481	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72888488	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72888489	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72890307	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72890315	1.00[AFR][1000 genomes]
rs72890345	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72890349	0.87[AMR][1000 genomes]
rs72890352	1.00[AMR][1000 genomes]
rs72890353	1.00[AMR][1000 genomes]
rs72890370	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72890384	1.00[AMR][1000 genomes]
rs72890392	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72890398	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72892604	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72892631	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72892638	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72892656	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72892689	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72892694	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72892702	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72894503	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72894513	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72894523	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72894527	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72894533	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72894535	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72894537	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72894539	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72894544	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72894546	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72894570	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72894585	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72894593	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72894596	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72896508	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72896517	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72896518	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72896520	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72896524	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72896528	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72896534	0.86[EUR][1000 genomes]
rs72896555	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72896556	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72896558	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72896559	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72896560	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72896567	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72896581	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72896586	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72896598	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72898507	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72898512	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72898513	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72898514	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72898516	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72898517	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72898522	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72898525	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72898529	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72898532	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72898535	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72898538	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72898539	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72898542	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72898545	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72898548	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72898555	0.86[EUR][1000 genomes]
rs72898558	0.86[EUR][1000 genomes]
rs72898562	0.83[EUR][1000 genomes]
rs72898566	0.86[EUR][1000 genomes]
rs72898569	0.86[EUR][1000 genomes]
rs72898573	0.86[EUR][1000 genomes]
rs72898574	0.86[EUR][1000 genomes]
rs72898578	0.83[EUR][1000 genomes]
rs72898581	0.86[EUR][1000 genomes]
rs72900766	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72900772	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72900775	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72900780	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7562034	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7565260	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7566497	1.00[AMR][1000 genomes]
rs7567370	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7577407	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7597417	0.87[AMR][1000 genomes];0.86[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	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

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183814600-183893600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:183846000-183902000	Weak transcription	Lung	lung
3	chr2:183854000-183898800	Weak transcription	Fetal Brain Male	brain
4	chr2:183859600-183882000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:183859600-183899400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr2:183862400-183894400	Weak transcription	Placenta	Placenta
7	chr2:183866000-183881800	Weak transcription	Brain Germinal Matrix	brain
8	chr2:183866800-183885400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr2:183866800-183889000	Weak transcription	Fetal Lung	lung
10	chr2:183866800-183889200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr2:183867800-183881800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr2:183867800-183889200	Weak transcription	Liver	Liver
13	chr2:183875000-183890000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:183875200-183882000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr2:183875200-183882000	Weak transcription	NH-A	brain
16	chr2:183875200-183884800	Weak transcription	Fetal Stomach	stomach
17	chr2:183875200-183885400	Weak transcription	NHDF-Ad	bronchial
18	chr2:183875200-183886000	Weak transcription	Fetal Muscle Leg	muscle
19	chr2:183875200-183888600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:183875200-183891000	Weak transcription	Pancreas	Pancrea
21	chr2:183875200-183896200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr2:183875200-183896600	Weak transcription	Hela-S3	cervix
23	chr2:183875400-183885800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:183875400-183886400	Weak transcription	Fetal Kidney	kidney
25	chr2:183875400-183886600	Weak transcription	HSMM	muscle
26	chr2:183875400-183897000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr2:183875400-183899600	Weak transcription	HSMMtube	muscle
28	chr2:183875800-183886000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr2:183877000-183886000	Weak transcription	Osteobl	bone
30	chr2:183877400-183884400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr2:183877600-183881800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr2:183878200-183883800	Weak transcription	NHEK	skin
33	chr2:183878400-183888600	Weak transcription	Adipose Nuclei	Adipose
34	chr2:183878600-183881800	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr2:183878600-183889600	Weak transcription	Ovary	ovary
36	chr2:183878800-183881800	Weak transcription	Left Ventricle	heart
37	chr2:183878800-183882000	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr2:183878800-183884800	Weak transcription	Right Atrium	heart
39	chr2:183878800-183886000	Weak transcription	Psoas Muscle	Psoas
40	chr2:183878800-183889600	Weak transcription	Gastric	stomach
41	chr2:183878800-183902000	Weak transcription	Esophagus	oesophagus
42	chr2:183879200-183883000	Weak transcription	HMEC	breast
43	chr2:183879200-183900200	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr2:183879400-183889200	Weak transcription	NHLF	lung
45	chr2:183879600-183890800	Weak transcription	Stomach Smooth Muscle	stomach
46	chr2:183879600-183897600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr2:183879800-183882000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr2:183879800-183882200	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr2:183879800-183885400	Weak transcription	K562	blood
50	chr2:183879800-183885600	Weak transcription	A549	lung

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