Variant report

Variant	rs74132289
Chromosome Location	chr1:185337424-185337425
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:185336356..185337918-chr1:185339608..185342446,2	K562	blood:
2	chr1:185323027..185325964-chr1:185336251..185338084,2	K562	blood:
3	chr1:185336756..185338388-chr1:185373495..185375950,2	MCF-7	breast:
4	chr1:185336579..185338652-chr1:185344761..185346664,3	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10911689	1.00[AMR][1000 genomes]
rs10911691	1.00[AMR][1000 genomes]
rs12064379	1.00[AMR][1000 genomes]
rs12072067	1.00[AMR][1000 genomes]
rs12074509	1.00[AMR][1000 genomes]
rs12076354	1.00[AMR][1000 genomes]
rs12088208	1.00[AMR][1000 genomes]
rs16823977	1.00[AFR][1000 genomes]
rs55940524	1.00[AMR][1000 genomes]
rs57172687	1.00[AFR][1000 genomes]
rs58169917	1.00[AMR][1000 genomes]
rs58478654	1.00[AMR][1000 genomes]
rs58677790	1.00[AMR][1000 genomes]
rs59295359	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60373073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74132215	1.00[AMR][1000 genomes]
rs74132217	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74132219	1.00[AFR][1000 genomes]
rs74132220	1.00[AFR][1000 genomes]
rs74132221	1.00[AFR][1000 genomes]
rs74132291	1.00[AFR][1000 genomes]
rs74132294	1.00[AFR][1000 genomes]
rs74132300	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74132493	1.00[AMR][1000 genomes]
rs74132494	1.00[AMR][1000 genomes]
rs74132495	1.00[AMR][1000 genomes]
rs74132499	1.00[AMR][1000 genomes]
rs74134440	1.00[AMR][1000 genomes]
rs74135005	1.00[AMR][1000 genomes]
rs74135006	1.00[AMR][1000 genomes]
rs74135007	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	esv2756872	chr1:185293197-185345771	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv2758981	chr1:185293197-185345771	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1008247	chr1:185321360-185345771	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185334800-185342400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr1:185335000-185337600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:185335000-185345000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:185335600-185338600	Enhancers	HUVEC	blood vessel
5	chr1:185336200-185338800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr1:185336200-185339800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:185336400-185339800	Weak transcription	A549	lung
8	chr1:185336600-185337600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:185336600-185337600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr1:185336600-185337600	Weak transcription	Stomach Mucosa	stomach
11	chr1:185336600-185338600	Weak transcription	Osteobl	bone
12	chr1:185336600-185342400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:185336600-185342800	Weak transcription	HMEC	breast
14	chr1:185336600-185343000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:185336600-185343000	Weak transcription	Esophagus	oesophagus
16	chr1:185336600-185345000	Weak transcription	Right Atrium	heart
17	chr1:185336800-185338200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:185336800-185338800	Weak transcription	NHEK	skin
19	chr1:185337400-185338000	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr1:185337400-185339000	Enhancers	Rectal Mucosa Donor 31	rectum

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