Variant report

Variant	rs12684333
Chromosome Location	chr9:94682714-94682715
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:94682144..94685075-chr9:94711793..94713631,2	MCF-7	breast:
2	chr9:94664745..94669992-chr9:94681267..94685780,5	K562	blood:
3	chr9:94673282..94676556-chr9:94680783..94682805,3	K562	blood:
4	chr9:94680096..94683212-chr9:94691490..94694919,3	K562	blood:
5	chr9:94667170..94669992-chr9:94682219..94685194,2	K562	blood:
6	chr9:94679676..94683212-chr9:94692527..94694919,4	K562	blood:

Variant related genes	Relation type
ENSG00000169071	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12684752	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16907979	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3750440	0.83[ASN][1000 genomes]
rs7033397	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7036525	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7042585	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[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	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
2	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
3	nsv530946	chr9:94633154-94715023	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94668800-94682800	Weak transcription	Colonic Mucosa	Colon
2	chr9:94670200-94682800	Weak transcription	Fetal Kidney	kidney
3	chr9:94670400-94682800	Weak transcription	Right Atrium	heart
4	chr9:94670600-94686200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr9:94677400-94683000	Weak transcription	K562	blood
6	chr9:94677600-94682800	Weak transcription	Fetal Intestine Large	intestine
7	chr9:94678000-94685000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr9:94678200-94683600	Enhancers	Colon Smooth Muscle	Colon
9	chr9:94678200-94686600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr9:94678800-94686200	Weak transcription	Ovary	ovary
11	chr9:94679600-94682800	Weak transcription	Fetal Heart	heart
12	chr9:94679600-94684200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr9:94680200-94682800	Weak transcription	Fetal Stomach	stomach
14	chr9:94681400-94683200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr9:94681400-94683800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr9:94681400-94691400	Weak transcription	Pancreas	Pancrea
17	chr9:94681800-94682800	Weak transcription	Fetal Lung	lung
18	chr9:94681800-94682800	Weak transcription	Gastric	stomach
19	chr9:94681800-94682800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr9:94681800-94682800	Enhancers	Stomach Smooth Muscle	stomach
21	chr9:94682000-94683600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr9:94682400-94683200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr9:94682400-94683800	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr9:94682600-94683000	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr9:94682600-94683000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr9:94682600-94683600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr9:94682600-94683600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
28	chr9:94682600-94683800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
29	chr9:94682600-94683800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
30	chr9:94682600-94684000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr9:94682600-94684600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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