Variant report

Variant	rs472536
Chromosome Location	chr1:76714019-76714020
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10873867	0.89[JPT][hapmap]
rs3011990	0.88[JPT][hapmap]
rs479650	0.88[JPT][hapmap]
rs501426	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs519797	0.89[JPT][hapmap]
rs522935	0.89[JPT][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs523756	0.84[ASN][1000 genomes]
rs531773	0.89[JPT][hapmap]
rs533097	0.89[JPT][hapmap]
rs536913	0.89[JPT][hapmap]
rs544858	1.00[CHD][hapmap]
rs560520	0.86[JPT][hapmap]
rs569850	0.89[JPT][hapmap]
rs572581	0.96[YRI][hapmap];0.87[AFR][1000 genomes]
rs572623	0.89[JPT][hapmap]
rs573657	0.89[JPT][hapmap]
rs574927	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs580928	0.92[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv870621	chr1:76620313-76997071	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1008763	chr1:76692057-76723417	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv1001452	chr1:76692057-76724652	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv546584	chr1:76693367-76721164	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv523526	chr1:76695356-76721164	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv1499	chr1:76704981-76749688	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs472536	ERRFI1	trans	cerebellum	SCAN
rs472536	FUBP1	cis	cerebellum	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76712600-76714200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr1:76712800-76714200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:76713200-76716000	Weak transcription	Fetal Lung	lung
4	chr1:76713400-76714400	Enhancers	Primary T cells from cord blood	blood
5	chr1:76713400-76716000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:76713400-76716000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr1:76713400-76716000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr1:76713400-76717400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:76713400-76720200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr1:76713600-76714200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr1:76713600-76714400	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr1:76713600-76715800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:76713600-76715800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:76713600-76716000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr1:76713600-76716000	Weak transcription	Fetal Muscle Leg	muscle
16	chr1:76713600-76716200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:76713600-76719400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:76713800-76716000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr1:76713800-76716000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr1:76714000-76714400	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr1:76714000-76715800	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr1:76714000-76716000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr1:76714000-76716200	Weak transcription	Right Atrium	heart
24	chr1:76714000-76719400	Weak transcription	Fetal Thymus	thymus
25	chr1:76714000-76719800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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