Variant report

Variant	rs56239253
Chromosome Location	chr9:94509802-94509803
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:94508551..94510877-chr9:94514167..94515784,2	MCF-7	breast:
2	chr9:94509113..94511832-chr9:94540924..94543887,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12001172	1.00[EUR][1000 genomes]
rs12001678	1.00[EUR][1000 genomes]
rs12003706	1.00[EUR][1000 genomes]
rs12003887	1.00[EUR][1000 genomes]
rs12344153	1.00[EUR][1000 genomes]
rs1406203	1.00[EUR][1000 genomes]
rs56227711	1.00[EUR][1000 genomes]
rs60217100	1.00[EUR][1000 genomes]
rs6479372	1.00[EUR][1000 genomes]
rs6479373	1.00[EUR][1000 genomes]
rs73504490	0.83[AFR][1000 genomes]
rs7863502	1.00[EUR][1000 genomes]
rs7872833	0.83[AFR][1000 genomes]
rs7873653	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045332	chr9:94352661-94656016	Active TSS Bivalent Enhancer Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1047426	chr9:94363211-94758114	Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv531631	chr9:94373847-94633213	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv6612	chr9:94490644-94535738	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1036176	chr9:94500213-94639367	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv540171	chr9:94500213-94639367	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 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	chr9:94477200-94533000	Weak transcription	Fetal Kidney	kidney
2	chr9:94483600-94519400	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr9:94486200-94521000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr9:94486800-94517400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:94487000-94535400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr9:94490400-94521000	Weak transcription	Right Atrium	heart
7	chr9:94493200-94517400	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr9:94499600-94517200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr9:94499800-94517000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr9:94499800-94520400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr9:94499800-94522800	Weak transcription	Gastric	stomach
12	chr9:94499800-94523200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr9:94501000-94515800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr9:94502800-94516600	Weak transcription	Fetal Intestine Small	intestine
15	chr9:94503200-94515800	Weak transcription	Fetal Lung	lung
16	chr9:94504400-94517400	Weak transcription	Colon Smooth Muscle	Colon
17	chr9:94504600-94512800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr9:94506200-94523600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr9:94508400-94510200	Strong transcription	Fetal Stomach	stomach
20	chr9:94508600-94510000	Enhancers	Ovary	ovary
21	chr9:94509400-94510200	Enhancers	Fetal Intestine Large	intestine
22	chr9:94509600-94510400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr9:94509800-94510000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr9:94509800-94510400	Enhancers	K562	blood
25	chr9:94509800-94512600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr9:94509800-94512800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr9:94509800-94513800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr9:94509800-94517200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr9:94509800-94521400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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