Variant report

Variant	rs74132803
Chromosome Location	chr1:180348360-180348361
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	chr1:180342071..180344205-chr1:180346633..180349074,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs16855661	1.00[AMR][1000 genomes]
rs16855695	0.87[AMR][1000 genomes]
rs16855749	0.87[AMR][1000 genomes]
rs16855834	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16855850	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16855855	0.87[AMR][1000 genomes]
rs16855910	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16855982	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16855986	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16856007	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16856037	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16856064	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4590641	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55698496	0.87[AMR][1000 genomes]
rs55754938	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56005059	0.87[AMR][1000 genomes]
rs56089354	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56128856	0.87[AMR][1000 genomes]
rs56233435	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57451284	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57948698	0.87[AMR][1000 genomes]
rs58175505	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59566983	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59612061	0.87[AMR][1000 genomes]
rs60088677	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60300532	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60439251	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60509208	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60729009	1.00[AMR][1000 genomes]
rs60923108	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61057572	0.87[AMR][1000 genomes]
rs61700262	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6672551	0.87[AMR][1000 genomes]
rs6675201	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6675208	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74132445	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74132456	0.87[AMR][1000 genomes]
rs74132457	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74132472	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74132478	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74132904	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74132919	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74135059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74135188	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7518923	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7520598	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7536470	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7537732	0.87[AMR][1000 genomes]
rs7548328	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9659140	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003739	chr1:180027760-180483292	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv535217	chr1:180027760-180483292	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv527918	chr1:180279710-180443808	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1013716	chr1:180287338-180477072	Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
5	nsv535221	chr1:180287338-180477072	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
6	esv2762200	chr1:180300936-180493841	ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
7	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
8	nsv1009742	chr1:180342203-180385459	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180330600-180349000	Weak transcription	HMEC	breast
2	chr1:180333000-180356200	Weak transcription	Ovary	ovary
3	chr1:180335800-180349000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:180337000-180349000	Weak transcription	Esophagus	oesophagus
5	chr1:180338400-180348400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:180338600-180349000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:180338600-180349000	Weak transcription	Left Ventricle	heart
8	chr1:180339600-180349000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:180341200-180401400	Weak transcription	Osteobl	bone
10	chr1:180343600-180356400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:180344600-180349000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:180345400-180349600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:180346200-180348400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:180347800-180348400	ZNF genes & repeats	Fetal Intestine Small	intestine
15	chr1:180347800-180349400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
16	chr1:180348000-180348400	ZNF genes & repeats	Primary T cells from cord blood	blood
17	chr1:180348000-180348600	ZNF genes & repeats	Fetal Lung	lung
18	chr1:180348000-180348600	ZNF genes & repeats	A549	lung
19	chr1:180348000-180349400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
20	chr1:180348000-180349600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:180348000-180349600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
22	chr1:180348000-180349600	ZNF genes & repeats	Fetal Intestine Large	intestine
23	chr1:180348000-180349800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
24	chr1:180348000-180349800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
25	chr1:180348200-180349000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:180348200-180349000	Weak transcription	Gastric	stomach
27	chr1:180348200-180349200	Weak transcription	Psoas Muscle	Psoas
28	chr1:180348200-180349800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:180348200-180350000	ZNF genes & repeats	Primary B cells from cord blood	blood
30	chr1:180348200-180382600	Weak transcription	Pancreas	Pancrea

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