Variant report

Variant	rs10475839
Chromosome Location	chr5:166721194-166721195
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10043619	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10462891	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11739327	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13355217	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4075224	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4349736	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56857681	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59094139	0.90[EUR][1000 genomes]
rs61241624	0.90[EUR][1000 genomes]
rs6865179	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7341056	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7730469	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7731005	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv869374	chr5:166488702-166817411	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1032183	chr5:166612188-166732287	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv883100	chr5:166718807-166808602	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:166714800-166721600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr5:166715000-166722200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:166715000-166722400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:166718800-166722400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr5:166718800-166722400	Weak transcription	Aorta	Aorta
6	chr5:166719800-166721200	Strong transcription	H9 Cell Line	embryonic stem cell
7	chr5:166719800-166722000	Enhancers	Hela-S3	cervix
8	chr5:166720000-166722200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr5:166720000-166722200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:166720400-166724000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr5:166720600-166724000	Enhancers	Fetal Lung	lung
12	chr5:166720800-166721400	Genic enhancers	HUES6 Cell Line	embryonic stem cell
13	chr5:166720800-166721600	Enhancers	A549	lung
14	chr5:166720800-166722200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr5:166720800-166722400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:166720800-166722400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr5:166720800-166724600	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr5:166720800-166724600	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr5:166720800-166724800	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr5:166721000-166722200	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr5:166721000-166722200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr5:166721000-166722200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr5:166721000-166722200	Enhancers	HMEC	breast
24	chr5:166721000-166722200	Enhancers	HUVEC	blood vessel
25	chr5:166721000-166722600	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr5:166721000-166723000	Enhancers	Ovary	ovary
27	chr5:166721000-166724400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr5:166721000-166724600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:166721000-166724600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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