Variant report

Variant	rs2192649
Chromosome Location	chr7:78126279-78126280
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10260232	0.95[EUR][1000 genomes]
rs11978045	0.84[AFR][1000 genomes]
rs2052244	0.93[ASN][1000 genomes]
rs2110630	0.84[AFR][1000 genomes]
rs35114939	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4421288	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4730332	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4730345	0.81[AFR][1000 genomes]
rs7787798	0.88[AFR][1000 genomes]
rs7789112	0.87[AFR][1000 genomes]
rs7805441	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022764	chr7:77911072-78316607	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1022199	chr7:78054639-78469370	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv538986	chr7:78054639-78469370	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78114800-78127800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr7:78119400-78128000	Enhancers	Brain Substantia Nigra	brain
3	chr7:78119400-78130200	Weak transcription	Aorta	Aorta
4	chr7:78119600-78145600	Weak transcription	Ovary	ovary
5	chr7:78119800-78128400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr7:78119800-78132400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr7:78122000-78127400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr7:78122000-78130400	Weak transcription	Brain Germinal Matrix	brain
9	chr7:78122600-78143800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr7:78123000-78126600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr7:78125400-78126400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr7:78125400-78126400	Enhancers	Brain Angular Gyrus	brain
13	chr7:78125600-78128600	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr7:78125800-78126600	Enhancers	H1 Cell Line	embryonic stem cell
15	chr7:78125800-78127000	Enhancers	Brain Anterior Caudate	brain
16	chr7:78126000-78126400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr7:78126000-78127200	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr7:78126000-78128200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:78126200-78126800	Enhancers	Brain Cingulate Gyrus	brain
20	chr7:78126200-78127000	Enhancers	Brain Hippocampus Middle	brain
21	chr7:78126200-78127400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr7:78126200-78127400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr7:78126200-78127400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr7:78126200-78127600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr7:78126200-78143800	Weak transcription	Brain Inferior Temporal Lobe	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links