Variant report

Variant	rs12237573
Chromosome Location	chr9:94541813-94541814
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	chr9:94534777..94536619-chr9:94540454..94542317,2	MCF-7	breast:
2	chr9:94509113..94511832-chr9:94540924..94543887,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10820902	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10992090	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10992095	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992104	0.90[AFR][1000 genomes]
rs10992108	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10992109	0.88[AFR][1000 genomes]
rs12685213	0.97[EUR][1000 genomes]
rs12685849	0.97[EUR][1000 genomes]
rs16907768	0.99[ASN][1000 genomes]
rs16907776	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2178196	0.88[AFR][1000 genomes]
rs2312730	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3802377	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3802378	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3935544	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4322069	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4398991	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4400454	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4452868	0.97[EUR][1000 genomes]
rs4601388	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs57810120	0.97[EUR][1000 genomes]
rs58210546	0.97[EUR][1000 genomes]
rs58462029	0.97[EUR][1000 genomes]
rs60092492	0.97[EUR][1000 genomes]
rs60617711	0.97[EUR][1000 genomes]
rs73511086	0.97[EUR][1000 genomes]
rs73513203	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73513246	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73651508	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
5	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
6	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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94533000-94542800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:94533000-94543600	Weak transcription	Right Atrium	heart
3	chr9:94533400-94549600	Weak transcription	Colonic Mucosa	Colon
4	chr9:94533600-94545400	Enhancers	Stomach Smooth Muscle	stomach
5	chr9:94534400-94546800	Weak transcription	Fetal Kidney	kidney
6	chr9:94536000-94543200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr9:94536000-94543600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr9:94536200-94544600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr9:94537000-94543400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr9:94537800-94543400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr9:94537800-94545000	Weak transcription	Fetal Intestine Small	intestine
12	chr9:94537800-94546000	Weak transcription	Gastric	stomach
13	chr9:94538000-94548800	Weak transcription	Esophagus	oesophagus
14	chr9:94538600-94543200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr9:94538800-94543400	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr9:94538800-94543400	Weak transcription	Ovary	ovary
17	chr9:94539000-94543200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr9:94539200-94543400	Weak transcription	Fetal Heart	heart
19	chr9:94539400-94543400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr9:94539600-94543600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr9:94539600-94543800	Weak transcription	Fetal Stomach	stomach
22	chr9:94539800-94542600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr9:94539800-94543400	Weak transcription	Colon Smooth Muscle	Colon
24	chr9:94540600-94546000	Weak transcription	K562	blood
25	chr9:94540800-94543200	Weak transcription	Fetal Lung	lung
26	chr9:94540800-94543600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr9:94540800-94545000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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