Variant report

Variant	rs653929
Chromosome Location	chr7:69187050-69187051
allele	C/T
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:5)

rs_ID	r²[population]
rs12698808	1.00[ASN][1000 genomes]
rs17459903	1.00[ASN][1000 genomes]
rs210607	1.00[ASN][1000 genomes]
rs2533450	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62458775	0.94[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916011	chr7:68942155-69330800	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv428169	chr7:69021482-69196743	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv831021	chr7:69122169-69364491	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1021538	chr7:69130236-69575753	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv538917	chr7:69130236-69575753	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv817276	chr7:69130237-69736834	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1018749	chr7:69149029-69995112	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69176600-69187600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:69179400-69193000	Weak transcription	Ovary	ovary
3	chr7:69180600-69192200	Weak transcription	Psoas Muscle	Psoas
4	chr7:69182200-69187200	Enhancers	Brain Germinal Matrix	brain
5	chr7:69182600-69188000	Weak transcription	Right Atrium	heart
6	chr7:69183400-69189000	Weak transcription	Fetal Intestine Small	intestine
7	chr7:69184800-69188000	Weak transcription	Brain Hippocampus Middle	brain
8	chr7:69185000-69187600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr7:69185000-69193000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr7:69185000-69203000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr7:69185200-69187600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr7:69185200-69187800	Weak transcription	Colon Smooth Muscle	Colon
13	chr7:69186000-69188200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:69186200-69188000	Weak transcription	Adipose Nuclei	Adipose
15	chr7:69186400-69187400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:69186400-69188000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr7:69186400-69188600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr7:69186400-69193200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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