Variant report

Variant	rs6743323
Chromosome Location	chr2:183924688-183924689
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	chr2:183917572..183921776-chr2:183922901..183926596,3	K562	blood:
2	chr2:183906719..183908567-chr2:183922990..183925300,2	K562	blood:

Extended variants
information (count: 134 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:128)

rs_ID	r²[population]
rs1473614	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs1473615	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs1473616	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs2675053	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs2675054	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs2705715	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs2705718	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs2705719	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs2705720	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs2705721	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs35142583	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs36077496	0.87[AMR][1000 genomes]
rs55657876	0.88[EUR][1000 genomes]
rs55696219	0.88[EUR][1000 genomes]
rs55707150	0.88[EUR][1000 genomes]
rs55764044	0.88[EUR][1000 genomes]
rs55957340	0.88[EUR][1000 genomes]
rs56152140	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56182353	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6707761	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6712479	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs6722457	0.88[EUR][1000 genomes]
rs6750392	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72886518	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72886527	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72886538	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72886541	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72886545	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72886547	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72886553	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72886557	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72886568	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72886577	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72886596	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72886600	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72888431	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72888449	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72888452	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72888461	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72888464	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72888472	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72888474	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72888478	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72888481	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72888488	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72888489	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72890307	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72890315	1.00[AFR][1000 genomes]
rs72890345	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72890349	1.00[AMR][1000 genomes]
rs72890352	0.87[AMR][1000 genomes]
rs72890353	0.87[AMR][1000 genomes]
rs72890370	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72890384	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72890392	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72890398	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72892604	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72892631	0.84[EUR][1000 genomes]
rs72892638	0.88[EUR][1000 genomes]
rs72892656	0.88[EUR][1000 genomes]
rs72892689	0.88[EUR][1000 genomes]
rs72892694	0.88[EUR][1000 genomes]
rs72892702	0.88[EUR][1000 genomes]
rs72894503	0.88[EUR][1000 genomes]
rs72894513	0.88[EUR][1000 genomes]
rs72894523	0.88[EUR][1000 genomes]
rs72894527	0.88[EUR][1000 genomes]
rs72894533	0.88[EUR][1000 genomes]
rs72894535	0.88[EUR][1000 genomes]
rs72894537	0.88[EUR][1000 genomes]
rs72894539	0.88[EUR][1000 genomes]
rs72894544	0.88[EUR][1000 genomes]
rs72894546	0.88[EUR][1000 genomes]
rs72894570	0.88[EUR][1000 genomes]
rs72894585	0.88[EUR][1000 genomes]
rs72894593	0.88[EUR][1000 genomes]
rs72894596	0.88[EUR][1000 genomes]
rs72896508	0.88[EUR][1000 genomes]
rs72896517	0.88[EUR][1000 genomes]
rs72896518	0.88[EUR][1000 genomes]
rs72896520	0.88[EUR][1000 genomes]
rs72896524	0.88[EUR][1000 genomes]
rs72896528	0.88[EUR][1000 genomes]
rs72896534	0.88[EUR][1000 genomes]
rs72896555	0.88[EUR][1000 genomes]
rs72896556	0.88[EUR][1000 genomes]
rs72896558	0.88[EUR][1000 genomes]
rs72896559	0.88[EUR][1000 genomes]
rs72896560	0.88[EUR][1000 genomes]
rs72896567	0.88[EUR][1000 genomes]
rs72896581	0.88[EUR][1000 genomes]
rs72896586	0.86[EUR][1000 genomes]
rs72896598	0.88[EUR][1000 genomes]
rs72898507	0.88[EUR][1000 genomes]
rs72898512	0.88[EUR][1000 genomes]
rs72898513	0.88[EUR][1000 genomes]
rs72898514	0.88[EUR][1000 genomes]
rs72898516	0.88[EUR][1000 genomes]
rs72898517	0.88[EUR][1000 genomes]
rs72898522	0.88[EUR][1000 genomes]
rs72898525	0.88[EUR][1000 genomes]
rs72898529	0.88[EUR][1000 genomes]
rs72898532	0.88[EUR][1000 genomes]
rs72898535	0.88[EUR][1000 genomes]
rs72898538	0.86[EUR][1000 genomes]
rs72898539	0.88[EUR][1000 genomes]
rs72898542	0.88[EUR][1000 genomes]
rs72898545	0.86[EUR][1000 genomes]
rs72898548	0.88[EUR][1000 genomes]
rs72898555	0.88[EUR][1000 genomes]
rs72898558	0.88[EUR][1000 genomes]
rs72898562	0.86[EUR][1000 genomes]
rs72898566	0.88[EUR][1000 genomes]
rs72898569	0.88[EUR][1000 genomes]
rs72898573	0.88[EUR][1000 genomes]
rs72898574	0.88[EUR][1000 genomes]
rs72898578	0.86[EUR][1000 genomes]
rs72898581	0.88[EUR][1000 genomes]
rs72900766	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72900772	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72900775	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72900780	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7562034	0.88[EUR][1000 genomes]
rs7565260	0.88[EUR][1000 genomes]
rs7566497	0.87[AMR][1000 genomes]
rs7567370	0.88[EUR][1000 genomes]
rs7577407	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs7597417	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183918000-183933400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:183920000-183925200	Weak transcription	Small Intestine	intestine
3	chr2:183920400-183926600	Enhancers	Fetal Intestine Small	intestine
4	chr2:183922400-183926600	Enhancers	Fetal Intestine Large	intestine
5	chr2:183922600-183925000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr2:183922600-183927200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:183924000-183925000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:183924000-183925000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:183924000-183925200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:183924000-183925200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:183924000-183925200	Enhancers	Muscle Satellite Cultured Cells	--
12	chr2:183924000-183925200	Enhancers	HMEC	breast
13	chr2:183924000-183925200	Enhancers	NHDF-Ad	bronchial
14	chr2:183924000-183925200	Enhancers	NHEK	skin
15	chr2:183924000-183925200	Enhancers	Osteobl	bone
16	chr2:183924200-183924800	Flanking Active TSS	A549	lung
17	chr2:183924200-183925000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:183924200-183925000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:183924200-183925000	Enhancers	Brain Anterior Caudate	brain
20	chr2:183924200-183925000	Enhancers	HSMM	muscle
21	chr2:183924200-183925000	Enhancers	HUVEC	blood vessel
22	chr2:183924200-183925000	Enhancers	NH-A	brain
23	chr2:183924200-183925200	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr2:183924200-183925200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:183924200-183925200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:183924200-183925200	Enhancers	Hela-S3	cervix
27	chr2:183924200-183925200	Enhancers	HepG2	liver
28	chr2:183924200-183925800	Enhancers	Stomach Mucosa	stomach
29	chr2:183924200-183925800	Enhancers	K562	blood
30	chr2:183924400-183925000	Weak transcription	GM12878-XiMat	blood
31	chr2:183924600-183924800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:183924600-183925000	Enhancers	HSMMtube	muscle

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