Variant report

Variant	rs12093452
Chromosome Location	chr1:76188507-76188508
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:76188418-76192901	GM12891	blood:	n/a	n/a
2	POLR2A	chr1:76188419-76188513	HepG2	liver:	n/a	n/a
3	POLR2A	chr1:76188459-76189326	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr1:76188435-76188524	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr1:76188161-76190823	Raji	blood:	n/a	n/a
6	POLR2A	chr1:76188052-76192437	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:76187324..76189486-chr1:76251695..76253876,2	MCF-7	breast:
2	chr1:76187424..76195796-chr1:76248839..76258922,52	K562	blood:
3	chr1:76186929..76188557-chr16:30758246..30760309,2	K562	blood:
4	chr1:76186306..76195796-chr1:76248732..76266552,73	K562	blood:

Variant related genes	Relation type
ACADM	TF binding region
ENSG00000137955	Chromatin interaction
ENSG00000156873	Chromatin interaction
ENSG00000201487	Chromatin interaction
ENSG00000207241	Chromatin interaction
ENSG00000206620	Chromatin interaction
ENSG00000057468	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10082036	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs10082037	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs10082054	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs10157365	0.87[YRI][hapmap];0.91[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs10157727	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs12059588	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs12079369	0.89[AMR][1000 genomes]
rs12096022	0.88[AFR][1000 genomes];0.89[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	nsv519329	chr1:75830438-76358591	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv870520	chr1:76088392-76206490	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv830281	chr1:76095292-76251053	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv871572	chr1:76161889-76208488	Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS 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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76184200-76189000	Weak transcription	Esophagus	oesophagus
2	chr1:76186000-76188600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:76186000-76189600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr1:76186200-76188600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr1:76186200-76189200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr1:76186200-76189200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr1:76186800-76189400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:76187200-76188600	Weak transcription	K562	blood
9	chr1:76187200-76189000	Weak transcription	Psoas Muscle	Psoas
10	chr1:76187200-76189200	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr1:76187200-76189200	Weak transcription	Thymus	Thymus
12	chr1:76187200-76189400	Weak transcription	Fetal Intestine Small	intestine
13	chr1:76187200-76189400	Weak transcription	Fetal Thymus	thymus
14	chr1:76187200-76189600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:76187400-76188800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr1:76187400-76189000	Weak transcription	HepG2	liver
17	chr1:76187400-76189200	Weak transcription	Primary hematopoietic stem cells	blood
18	chr1:76187400-76189200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr1:76187400-76189200	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr1:76187400-76189400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr1:76187600-76189000	Weak transcription	Primary T cells from cord blood	blood
22	chr1:76187600-76189200	Weak transcription	Fetal Intestine Large	intestine
23	chr1:76187600-76189400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr1:76188200-76189000	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr1:76188200-76189000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:76188200-76189200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr1:76188200-76189600	Flanking Active TSS	NHEK	skin
28	chr1:76188400-76189200	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr1:76188400-76189400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:76188400-76189600	Weak transcription	H9 Cell Line	embryonic stem cell

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