Variant report

Variant	rs10477434
Chromosome Location	chr5:108390732-108390733
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr5:108390596-108390804	SK-N-SH_RA	brain:	n/a	n/a
2	EP300	chr5:108390571-108390838	SK-N-SH_RA	brain:	n/a	n/a
3	PBX3	chr5:108390518-108390874	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
GJA1P1	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10043207	0.85[ASN][1000 genomes]
rs10061864	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10062069	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10066497	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10477435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11240990	0.91[ASN][1000 genomes]
rs13355279	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13357674	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1366081	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1896582	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2416196	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2416197	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3797832	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3797833	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3797834	0.89[ASN][1000 genomes]
rs3797837	0.91[ASN][1000 genomes]
rs60777927	1.00[ASN][1000 genomes]
rs6865572	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6893738	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72790597	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72790598	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72790599	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72790602	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72792507	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9885203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830443	chr5:108326491-108496723	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108356000-108399000	Weak transcription	HSMM	muscle
2	chr5:108360400-108400400	Weak transcription	NHEK	skin
3	chr5:108360400-108404800	Weak transcription	Colon Smooth Muscle	Colon
4	chr5:108360400-108425200	Weak transcription	Aorta	Aorta
5	chr5:108376400-108392600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:108377000-108399000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:108380000-108391200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr5:108387600-108395200	Weak transcription	Fetal Stomach	stomach
9	chr5:108387800-108394800	Weak transcription	Left Ventricle	heart
10	chr5:108388000-108396600	Weak transcription	Adipose Nuclei	Adipose
11	chr5:108388000-108401200	Weak transcription	Gastric	stomach
12	chr5:108388200-108391200	Weak transcription	Fetal Muscle Trunk	muscle
13	chr5:108388200-108391400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr5:108388200-108391400	Weak transcription	Dnd41	blood
15	chr5:108388200-108391800	Weak transcription	Fetal Muscle Leg	muscle
16	chr5:108388200-108393200	Weak transcription	Pancreas	Pancrea
17	chr5:108388200-108396000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr5:108388200-108401800	Weak transcription	Ovary	ovary
19	chr5:108388400-108391800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr5:108388400-108392600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr5:108388800-108396600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:108388800-108397600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr5:108388800-108412000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr5:108389000-108396200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr5:108389800-108392200	Enhancers	Fetal Heart	heart
26	chr5:108390000-108391000	Enhancers	NHDF-Ad	bronchial
27	chr5:108390200-108396200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr5:108390200-108398400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr5:108390400-108390800	Enhancers	Fetal Lung	lung
30	chr5:108390400-108391000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr5:108390600-108391200	Weak transcription	Osteobl	bone
32	chr5:108390600-108401600	Weak transcription	HSMMtube	muscle

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