Variant report

Variant	rs3011991
Chromosome Location	chr1:76701040-76701041
allele	A/C
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:7)

rs_ID	r²[population]
rs10218628	0.83[ASN][1000 genomes]
rs12035017	0.83[ASN][1000 genomes]
rs2952435	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs490570	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs512082	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs537620	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs566665	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76694600-76705000	Weak transcription	Primary B cells from cord blood	blood
2	chr1:76695600-76703000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:76695600-76703400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:76695600-76703800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:76695600-76703800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:76695600-76703800	Weak transcription	Brain Hippocampus Middle	brain
7	chr1:76695600-76703800	Weak transcription	Brain Substantia Nigra	brain
8	chr1:76695600-76704200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:76695600-76704200	Weak transcription	Brain Anterior Caudate	brain
10	chr1:76695600-76705000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr1:76695600-76708200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:76695800-76703200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:76697000-76703600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:76697000-76703600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:76697000-76708200	Weak transcription	Fetal Lung	lung
16	chr1:76700200-76704000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr1:76700400-76702800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr1:76700400-76702800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr1:76700400-76703000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr1:76700400-76703200	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr1:76700400-76703400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr1:76700400-76703400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr1:76700600-76703000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:76700800-76703000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr1:76700800-76703400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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