Variant report

Variant	rs72998539
Chromosome Location	chr1:76713743-76713744
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs2035611	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4353143	1.00[AMR][1000 genomes]
rs72998547	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72998553	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72998571	1.00[AMR][1000 genomes]
rs72998579	1.00[AMR][1000 genomes]
rs72998584	1.00[AMR][1000 genomes]
rs72998597	1.00[AMR][1000 genomes]
rs73000416	1.00[AMR][1000 genomes]
rs73000483	1.00[AMR][1000 genomes]
rs73002405	1.00[AMR][1000 genomes]
rs73002412	1.00[AMR][1000 genomes]
rs73002414	1.00[AMR][1000 genomes]
rs73004241	1.00[AMR][1000 genomes]
rs73006152	1.00[AMR][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

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76711600-76714000	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr1:76712600-76713800	Enhancers	H9 Cell Line	embryonic stem cell
3	chr1:76712600-76714200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:76712800-76713800	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr1:76712800-76714000	Enhancers	H1 Cell Line	embryonic stem cell
6	chr1:76712800-76714000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:76712800-76714000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:76712800-76714000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:76712800-76714000	Enhancers	Fetal Thymus	thymus
10	chr1:76712800-76714200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:76713200-76713800	Enhancers	Primary T cells fromperipheralblood	blood
12	chr1:76713200-76716000	Weak transcription	Fetal Lung	lung
13	chr1:76713400-76714400	Enhancers	Primary T cells from cord blood	blood
14	chr1:76713400-76716000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr1:76713400-76716000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr1:76713400-76716000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr1:76713400-76717400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:76713400-76720200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr1:76713600-76714000	Enhancers	Right Atrium	heart
20	chr1:76713600-76714200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr1:76713600-76714400	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr1:76713600-76715800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr1:76713600-76715800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:76713600-76716000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr1:76713600-76716000	Weak transcription	Fetal Muscle Leg	muscle
26	chr1:76713600-76716200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:76713600-76719400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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