Variant report

Variant	rs12698809
Chromosome Location	chr7:69296788-69296789
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12698810	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12698811	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12698818	0.81[ASN][1000 genomes]
rs12698821	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12698832	0.83[ASN][1000 genomes]
rs12698845	0.81[AMR][1000 genomes]
rs13221186	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs13221694	0.87[ASN][1000 genomes]
rs13224557	0.81[ASN][1000 genomes]
rs13227197	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs13228686	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs13229256	0.81[ASN][1000 genomes]
rs2533436	0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs2533437	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs34701787	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71535673	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7785360	0.81[ASN][1000 genomes]
rs7789364	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	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	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
3	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
4	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
5	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
6	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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69284600-69297400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:69288200-69304800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr7:69288600-69304800	Weak transcription	Ovary	ovary
4	chr7:69290400-69302400	Weak transcription	Fetal Stomach	stomach
5	chr7:69291000-69299400	Weak transcription	Fetal Intestine Small	intestine
6	chr7:69291200-69297000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:69291200-69299000	Weak transcription	Fetal Brain Female	brain
8	chr7:69292400-69299200	Weak transcription	Colon Smooth Muscle	Colon
9	chr7:69293200-69299200	Weak transcription	Fetal Lung	lung
10	chr7:69293200-69299400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:69293200-69302000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr7:69293400-69299000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:69293400-69299000	Weak transcription	Thymus	Thymus
14	chr7:69293400-69299400	Weak transcription	Fetal Thymus	thymus
15	chr7:69293600-69304400	Weak transcription	Primary B cells from cord blood	blood
16	chr7:69293600-69310800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr7:69294000-69297200	Weak transcription	Primary B cells from peripheral blood	blood
18	chr7:69295600-69298000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr7:69295800-69297000	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr7:69295800-69297800	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr7:69295800-69298000	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr7:69295800-69298200	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr7:69296000-69297800	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr7:69296200-69297400	Enhancers	Brain Hippocampus Middle	brain
25	chr7:69296200-69297600	Enhancers	H1 Cell Line	embryonic stem cell
26	chr7:69296200-69297600	Enhancers	H9 Cell Line	embryonic stem cell
27	chr7:69296200-69297600	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr7:69296200-69298000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr7:69296200-69302200	Weak transcription	Brain Germinal Matrix	brain
30	chr7:69296400-69302400	Weak transcription	Brain Substantia Nigra	brain
31	chr7:69296400-69304600	Weak transcription	Brain Anterior Caudate	brain
32	chr7:69296600-69297000	Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr7:69296600-69299000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr7:69296600-69304800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links