Variant report

Variant	rs7712712
Chromosome Location	chr5:107438988-107438989
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:13)

rs_ID	r²[population]
rs11742263	1.00[CEU][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13176829	1.00[GIH][hapmap]
rs17161091	0.96[EUR][1000 genomes]
rs55665551	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55818290	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58652615	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60569410	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6894602	1.00[EUR][1000 genomes]
rs6895600	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs72789263	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72798153	1.00[EUR][1000 genomes]
rs72798160	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7729464	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882682	chr5:107213361-107458336	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv534281	chr5:107357579-107674981	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107388400-107510800	Weak transcription	Primary B cells from cord blood	blood
2	chr5:107416000-107443600	Weak transcription	Primary T cells from cord blood	blood
3	chr5:107427400-107443800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr5:107436600-107439000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:107437000-107439600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr5:107437400-107439600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr5:107437400-107439600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr5:107437400-107445400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:107437600-107439400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr5:107437600-107439800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr5:107437800-107440400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr5:107437800-107441400	Weak transcription	Brain Hippocampus Middle	brain
13	chr5:107437800-107446000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr5:107437800-107447600	Weak transcription	Right Atrium	heart
15	chr5:107437800-107463800	Weak transcription	Esophagus	oesophagus
16	chr5:107438000-107439200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr5:107438000-107439600	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr5:107438200-107439000	Enhancers	H9 Cell Line	embryonic stem cell
19	chr5:107438200-107439000	Enhancers	Fetal Lung	lung
20	chr5:107438400-107439000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr5:107438400-107439600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr5:107438400-107440000	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr5:107438400-107440800	Weak transcription	Psoas Muscle	Psoas
24	chr5:107438400-107441000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr5:107438400-107442800	Weak transcription	Fetal Muscle Leg	muscle
26	chr5:107438400-107446000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr5:107438400-107447600	Weak transcription	Pancreas	Pancrea
28	chr5:107438400-107448800	Weak transcription	Left Ventricle	heart
29	chr5:107438800-107439000	Enhancers	Colon Smooth Muscle	Colon
30	chr5:107438800-107439200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr5:107438800-107441800	Weak transcription	Osteobl	bone

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