Variant report

Variant	rs2992635
Chromosome Location	chr1:76716685-76716686
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1093559	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1093560	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs523756	0.86[EUR][1000 genomes]
rs536811	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs551269	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs572581	0.82[EUR][1000 genomes];0.90[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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76713400-76717400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:76713400-76720200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr1:76713600-76719400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:76714000-76719400	Weak transcription	Fetal Thymus	thymus
5	chr1:76714000-76719800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:76714200-76717400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:76714200-76719600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr1:76714400-76717000	Weak transcription	Primary T cells from cord blood	blood
9	chr1:76715800-76716800	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr1:76715800-76717200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr1:76715800-76717400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:76715800-76717600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:76716000-76717000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr1:76716000-76717200	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr1:76716000-76717200	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr1:76716000-76717600	Enhancers	Fetal Lung	lung
17	chr1:76716000-76718400	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr1:76716400-76716800	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr1:76716400-76717400	Weak transcription	Fetal Stomach	stomach
20	chr1:76716400-76719400	Weak transcription	NHDF-Ad	bronchial
21	chr1:76716400-76719600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr1:76716400-76722000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:76716400-76723200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr1:76716600-76718200	Enhancers	Brain Hippocampus Middle	brain
25	chr1:76716600-76719800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr1:76716600-76723600	Weak transcription	Fetal Muscle Leg	muscle

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