Variant report

Variant	rs9285134
Chromosome Location	chr13:40084118-40084119
allele	C/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:9)

rs_ID	r²[population]
rs7335007	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7988984	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7990112	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7990907	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7990948	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9315694	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9315695	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9315696	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9603556	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1054600	chr13:39801283-40545027	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	esv2757529	chr13:40040036-40090742	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv2759933	chr13:40040036-40090742	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1049669	chr13:40081362-40095803	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:40073800-40084200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr13:40074200-40094400	Weak transcription	Adipose Nuclei	Adipose
3	chr13:40076400-40089000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr13:40076400-40096000	Weak transcription	Lung	lung
5	chr13:40077400-40088400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr13:40077400-40088400	Weak transcription	Right Atrium	heart
7	chr13:40077600-40088400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr13:40077600-40101400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr13:40080000-40090400	Weak transcription	Psoas Muscle	Psoas
10	chr13:40080800-40088200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr13:40081400-40084200	Weak transcription	Esophagus	oesophagus
12	chr13:40081400-40088600	Weak transcription	Aorta	Aorta
13	chr13:40081400-40088800	Weak transcription	Fetal Brain Female	brain
14	chr13:40081600-40084200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr13:40081600-40084400	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr13:40081600-40086800	Weak transcription	Ovary	ovary
17	chr13:40081600-40089600	Weak transcription	Colon Smooth Muscle	Colon
18	chr13:40081600-40090200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr13:40081600-40096000	Weak transcription	Fetal Lung	lung
20	chr13:40081600-40096600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr13:40081800-40084200	Weak transcription	Fetal Heart	heart
22	chr13:40081800-40084200	Weak transcription	Osteobl	bone
23	chr13:40081800-40088000	Weak transcription	Right Ventricle	heart
24	chr13:40083800-40084400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr13:40083800-40084600	Enhancers	Left Ventricle	heart
26	chr13:40083800-40084800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr13:40083800-40085000	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr13:40084000-40084200	Enhancers	NHEK	skin
29	chr13:40084000-40084400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr13:40084000-40084600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr13:40084000-40084800	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr13:40084000-40084800	Enhancers	H1 Cell Line	embryonic stem cell
33	chr13:40084000-40084800	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr13:40084000-40084800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr13:40084000-40084800	Enhancers	HMEC	breast

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