Variant report

Variant	rs12045798
Chromosome Location	chr1:76506114-76506115
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1013629	0.86[AFR][1000 genomes]
rs10493578	0.90[EUR][1000 genomes]
rs10493580	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11162070	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11162073	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11804459	0.87[ASN][1000 genomes]
rs11805321	0.96[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12023970	0.90[EUR][1000 genomes]
rs12032833	0.90[ASN][1000 genomes]
rs12032853	0.90[ASN][1000 genomes]
rs12033420	0.90[ASN][1000 genomes]
rs12035171	0.88[EUR][1000 genomes]
rs12038667	0.94[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12039427	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12040748	0.96[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12040836	0.90[ASN][1000 genomes]
rs1370714	0.90[ASN][1000 genomes]
rs17599859	0.90[ASN][1000 genomes]
rs1934816	0.89[ASN][1000 genomes]
rs2289240	0.90[EUR][1000 genomes]
rs2289241	0.90[EUR][1000 genomes]
rs291075	0.81[EUR][1000 genomes]
rs4083965	0.81[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4146895	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4146896	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4949690	0.96[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58483436	0.87[EUR][1000 genomes]
rs61771303	0.90[ASN][1000 genomes]
rs6679705	0.90[ASN][1000 genomes]
rs6685661	0.90[ASN][1000 genomes]
rs6686341	0.81[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6688109	0.90[ASN][1000 genomes]
rs6688802	0.81[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6692421	0.90[ASN][1000 genomes]
rs6696470	0.90[ASN][1000 genomes]
rs6703050	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6703053	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6703146	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6704184	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs699830	0.83[EUR][1000 genomes]
rs7513692	0.81[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7517793	0.96[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7517974	0.96[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7529565	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7536325	0.90[ASN][1000 genomes]
rs7550814	0.81[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7556623	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998499	chr1:76361784-76598712	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv2754129	chr1:76489579-76529279	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv870968	chr1:76490234-76552475	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76502200-76507200	Enhancers	Fetal Intestine Large	intestine
2	chr1:76502200-76507400	Enhancers	Fetal Intestine Small	intestine
3	chr1:76503400-76507000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:76503600-76509600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:76504000-76509200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:76504200-76506200	Weak transcription	Fetal Lung	lung
7	chr1:76504200-76506600	Weak transcription	Fetal Stomach	stomach
8	chr1:76504200-76507400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr1:76504400-76506200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:76505200-76506200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:76505200-76506200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr1:76505600-76506600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr1:76505600-76506600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:76505600-76507400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:76505800-76506200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
16	chr1:76505800-76506200	Flanking Active TSS	K562	blood
17	chr1:76505800-76506400	Enhancers	Fetal Kidney	kidney
18	chr1:76505800-76506400	Enhancers	Stomach Mucosa	stomach
19	chr1:76505800-76506600	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr1:76505800-76506800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr1:76505800-76506800	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr1:76505800-76507000	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr1:76505800-76507200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr1:76505800-76507800	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr1:76506000-76506400	Enhancers	H1 Cell Line	embryonic stem cell
26	chr1:76506000-76506800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:76506000-76506800	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr1:76506000-76506800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr1:76506000-76507800	Enhancers	Placenta Amnion	Placenta Amnion

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