Variant report

Variant	rs12349307
Chromosome Location	chr9:79262698-79262699
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr9:79262670-79263000	MCF-7	breast:	n/a	chr9:79262828-79262839

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:79255042..79257003-chr9:79260887..79262943,2	K562	blood:
2	chr9:79254567..79257524-chr9:79261863..79264861,3	MCF-7	breast:

Variant related genes	Relation type
PRUNE2	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10117779	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10119882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17062827	1.00[AMR][1000 genomes]
rs7852547	0.84[AFR][1000 genomes];1.00[AMR][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	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	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
4	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
5	nsv1040363	chr9:79246366-79711737	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	esv3345842	chr9:79260247-79263783	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:79225400-79265600	Weak transcription	Fetal Muscle Leg	muscle
2	chr9:79249600-79265400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr9:79249600-79265600	Weak transcription	NHDF-Ad	bronchial
4	chr9:79249600-79265600	Weak transcription	NHLF	lung
5	chr9:79252600-79278000	Weak transcription	Gastric	stomach
6	chr9:79254000-79263000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr9:79255800-79265800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr9:79258000-79265600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr9:79258000-79270000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr9:79258200-79265600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr9:79258200-79265600	Weak transcription	Adipose Nuclei	Adipose
12	chr9:79258200-79265800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr9:79258200-79267800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr9:79259000-79269200	Weak transcription	Brain Substantia Nigra	brain
15	chr9:79259000-79278000	Weak transcription	Spleen	Spleen
16	chr9:79259200-79265600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr9:79259200-79265600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr9:79259400-79264800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr9:79259400-79264800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr9:79259400-79265200	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr9:79259400-79265600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr9:79259400-79265600	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr9:79259800-79263200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr9:79259800-79263400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr9:79259800-79264800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr9:79259800-79264800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr9:79259800-79265600	Weak transcription	Primary B cells from cord blood	blood
28	chr9:79259800-79265600	Weak transcription	Stomach Mucosa	stomach
29	chr9:79260000-79263000	Weak transcription	Brain Cingulate Gyrus	brain
30	chr9:79260000-79265400	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr9:79260000-79282400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr9:79260200-79265400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr9:79260200-79265400	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr9:79260200-79265600	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr9:79260200-79266200	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr9:79260400-79265600	Weak transcription	Small Intestine	intestine
37	chr9:79261000-79265800	Weak transcription	Ovary	ovary
38	chr9:79261400-79262800	Weak transcription	Fetal Intestine Large	intestine
39	chr9:79261600-79262800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr9:79261600-79262800	Weak transcription	Stomach Smooth Muscle	stomach
41	chr9:79261600-79263000	Strong transcription	Fetal Intestine Small	intestine
42	chr9:79261600-79264800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr9:79261600-79265000	Strong transcription	HSMMtube	muscle
44	chr9:79261600-79265400	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr9:79261600-79265600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr9:79261600-79265600	Weak transcription	NH-A	brain
47	chr9:79261800-79265200	Weak transcription	Osteobl	bone
48	chr9:79261800-79265400	Weak transcription	HUVEC	blood vessel
49	chr9:79261800-79265600	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr9:79261800-79265600	Weak transcription	HMEC	breast

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