Variant report

Variant	rs74133230
Chromosome Location	chr1:185638735-185638736
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:185636831..185638870-chr1:185648065..185649959,2	K562	blood:
2	chr1:185285889..185287485-chr1:185638160..185641085,2	MCF-7	breast:
3	chr1:185637732..185641780-chr1:185642049..185644767,4	K562	blood:

Variant related genes	Relation type
ENSG00000273004	Chromatin interaction
ENSG00000116679	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10489708	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10489709	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10489710	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10489712	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs12080798	0.95[AMR][1000 genomes]
rs16824344	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs16824347	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1961519	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs56690475	1.00[ASN][1000 genomes]
rs57745490	1.00[ASN][1000 genomes]
rs59414526	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs61160546	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6670922	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6670930	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6695637	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73061121	1.00[ASN][1000 genomes]
rs73061125	1.00[ASN][1000 genomes]
rs73061155	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73061157	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73061163	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73062771	0.94[ASN][1000 genomes]
rs73062777	0.94[ASN][1000 genomes]
rs73068985	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73070908	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185618800-185638800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:185632800-185639200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr1:185632800-185639400	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr1:185632800-185641800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:185632800-185643400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:185632800-185646200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:185633200-185639200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:185635400-185639400	Weak transcription	Gastric	stomach
9	chr1:185635400-185648200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:185636200-185639200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr1:185636200-185639200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr1:185636600-185639400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:185636800-185639200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr1:185637200-185649200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:185637400-185638800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:185637400-185638800	Weak transcription	Left Ventricle	heart
17	chr1:185637400-185643400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr1:185637600-185639200	Weak transcription	Stomach Mucosa	stomach
19	chr1:185637600-185639400	Weak transcription	Right Ventricle	heart
20	chr1:185638200-185639000	Weak transcription	Primary T cells from cord blood	blood
21	chr1:185638200-185642000	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr1:185638600-185639600	Enhancers	Placenta Amnion	Placenta Amnion
23	chr1:185638600-185639800	Enhancers	Fetal Heart	heart

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