Variant report

Variant	rs12131493
Chromosome Location	chr1:76139172-76139173
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	chr1:76138876..76140835-chr1:76251753..76254513,3	K562	blood:
2	chr1:76138718..76140997-chr1:76142345..76144918,2	K562	blood:

Variant related genes	Relation type
ENSG00000206620	Chromatin interaction
ENSG00000137955	Chromatin interaction
ENSG00000207241	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11163904	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11163915	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11163967	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11164042	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11576534	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11578480	0.87[EUR][1000 genomes]
rs11579752	0.94[EUR][1000 genomes]
rs11584577	0.82[EUR][1000 genomes]
rs11586638	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11589276	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11810154	0.82[EUR][1000 genomes]
rs12118229	0.82[EUR][1000 genomes]
rs12118306	0.82[EUR][1000 genomes]
rs12125933	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12126155	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12129523	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12130334	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12130832	0.84[EUR][1000 genomes]
rs12131344	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12132503	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12132750	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12138018	0.92[EUR][1000 genomes]
rs12142247	0.84[EUR][1000 genomes]
rs12145870	0.93[EUR][1000 genomes]
rs17585530	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17647178	0.86[EUR][1000 genomes]
rs17647711	0.83[EUR][1000 genomes]
rs17848068	0.92[EUR][1000 genomes]
rs1846233	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2147039	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4403585	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4638068	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4646960	0.86[EUR][1000 genomes]
rs57249318	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60550898	0.83[EUR][1000 genomes]
rs6664254	0.84[EUR][1000 genomes]
rs6675212	0.85[EUR][1000 genomes]
rs6704444	0.86[EUR][1000 genomes]
rs74090722	0.88[EUR][1000 genomes]
rs74090730	0.86[EUR][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	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	esv2757737	chr1:75986904-76187748	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv2758943	chr1:75986904-76187748	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv427675	chr1:76070382-76187748	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	esv2756846	chr1:76083408-76156986	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	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
7	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
8	nsv945914	chr1:76109781-76172388	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76136800-76139200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
2	chr1:76137600-76139400	Flanking Active TSS	K562	blood
3	chr1:76137800-76139200	Enhancers	Hela-S3	cervix
4	chr1:76137800-76139400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:76137800-76139400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:76137800-76139400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:76137800-76139400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:76137800-76139800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:76138000-76139200	Enhancers	HSMM	muscle
10	chr1:76138000-76139200	Enhancers	NHEK	skin
11	chr1:76138000-76139400	Enhancers	HMEC	breast
12	chr1:76138000-76139600	Enhancers	Placenta	Placenta
13	chr1:76138200-76139200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:76138200-76139200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:76138200-76139400	Enhancers	Lung	lung
16	chr1:76138600-76139400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr1:76138800-76139400	Enhancers	HepG2	liver
18	chr1:76138800-76142200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr1:76138800-76143000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr1:76139000-76142400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr1:76139000-76142600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr1:76139000-76142600	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr1:76139000-76142600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr1:76139000-76142800	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr1:76139000-76143000	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr1:76139000-76143400	Weak transcription	H9 Cell Line	embryonic stem cell

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