Variant report

Variant	rs12074693
Chromosome Location	chr1:76703874-76703875
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12082216	0.84[AFR][1000 genomes]
rs17098431	0.87[CEU][hapmap]
rs17098434	0.87[CEU][hapmap]
rs17098457	0.82[EUR][1000 genomes]
rs17098469	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs59079863	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59666113	1.00[ASN][1000 genomes]
rs67584550	0.82[EUR][1000 genomes]
rs72675941	1.00[ASN][1000 genomes]
rs72675947	0.86[EUR][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:30 , 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	chr1:76695600-76704200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:76695600-76704200	Weak transcription	Brain Anterior Caudate	brain
4	chr1:76695600-76705000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:76695600-76708200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:76697000-76708200	Weak transcription	Fetal Lung	lung
7	chr1:76700200-76704000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr1:76702800-76705600	Enhancers	H1 Cell Line	embryonic stem cell
9	chr1:76702800-76706400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr1:76703000-76705600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:76703000-76706200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr1:76703200-76706400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr1:76703200-76707000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:76703400-76704200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:76703400-76705600	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr1:76703400-76706200	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr1:76703400-76706400	Enhancers	Hela-S3	cervix
18	chr1:76703600-76704200	Enhancers	NH-A	brain
19	chr1:76703600-76704400	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr1:76703600-76705000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:76703600-76705600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:76703600-76705600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:76703800-76704000	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr1:76703800-76704000	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr1:76703800-76704400	Enhancers	Brain Hippocampus Middle	brain
26	chr1:76703800-76704600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:76703800-76705000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr1:76703800-76705600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr1:76703800-76706200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr1:76703800-76707000	Enhancers	Brain Substantia Nigra	brain

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