Variant report

Variant	rs12684940
Chromosome Location	chr9:79086803-79086804
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:79086560..79088176-chr9:79091535..79093262,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17062398	1.00[ASN][1000 genomes]
rs17062410	1.00[ASN][1000 genomes]
rs17062412	1.00[ASN][1000 genomes]
rs61744750	1.00[ASN][1000 genomes]
rs62565669	1.00[ASN][1000 genomes]
rs7025902	1.00[ASN][1000 genomes]
rs7028066	1.00[ASN][1000 genomes]
rs7039902	1.00[ASN][1000 genomes]
rs7040027	1.00[ASN][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	nsv869152	chr9:78742197-79583399	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv931033	chr9:78850330-79366454	Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv893478	chr9:78933874-79101006	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv893479	chr9:78971253-79275226	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv949417	chr9:79078703-79282589	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	esv3483865	chr9:79086125-79088057	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3483866	chr9:79086262-79088027	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:79075200-79087200	Weak transcription	Spleen	Spleen
2	chr9:79075400-79087200	Weak transcription	Colonic Mucosa	Colon
3	chr9:79075400-79089800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr9:79075400-79090200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr9:79075400-79101000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr9:79075600-79117800	Weak transcription	Primary T cells from cord blood	blood
7	chr9:79076000-79087400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr9:79076000-79088000	Weak transcription	NHDF-Ad	bronchial
9	chr9:79076800-79087200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr9:79077600-79092800	Weak transcription	Fetal Stomach	stomach
11	chr9:79078600-79092400	Weak transcription	HMEC	breast
12	chr9:79078800-79087000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr9:79080800-79117200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr9:79081000-79087200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr9:79081200-79087000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr9:79081400-79087400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr9:79081400-79088800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr9:79081800-79093000	Weak transcription	Lung	lung
19	chr9:79081800-79117200	Weak transcription	Gastric	stomach
20	chr9:79082600-79117600	Weak transcription	NHLF	lung
21	chr9:79082800-79087200	Weak transcription	Primary hematopoietic stem cells	blood
22	chr9:79083000-79088800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr9:79083600-79090200	Weak transcription	HSMM	muscle
24	chr9:79083600-79090400	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr9:79083600-79092800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr9:79085200-79087400	Genic enhancers	Fetal Intestine Small	intestine
27	chr9:79085200-79089000	Genic enhancers	Osteobl	bone
28	chr9:79085200-79093000	Enhancers	Primary B cells from peripheral blood	blood
29	chr9:79085600-79087400	Enhancers	GM12878-XiMat	blood
30	chr9:79085600-79088600	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr9:79085600-79089000	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr9:79085600-79091200	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr9:79085800-79087000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr9:79085800-79087000	Enhancers	Duodenum Mucosa	Duodenum
35	chr9:79085800-79087600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr9:79085800-79087800	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr9:79085800-79088600	Enhancers	Fetal Intestine Large	intestine
38	chr9:79085800-79088800	Enhancers	H1 Cell Line	embryonic stem cell
39	chr9:79085800-79088800	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr9:79085800-79089000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr9:79085800-79089000	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr9:79085800-79089000	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr9:79086000-79087800	Weak transcription	Esophagus	oesophagus
44	chr9:79086000-79088400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr9:79086000-79088400	Enhancers	Stomach Mucosa	stomach
46	chr9:79086000-79089000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr9:79086000-79089000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr9:79086200-79087200	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr9:79086200-79087400	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr9:79086200-79087400	Enhancers	Fetal Thymus	thymus

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