Variant report

Variant	rs12339144
Chromosome Location	chr9:14181529-14181530
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	chr9:14180288..14182933-chr9:14314004..14316162,2	MCF-7	breast:
2	chr9:14180541..14184155-chr9:14313790..14316409,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147862	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs16931440	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033764	chr9:13764918-14226168	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv892593	chr9:13948798-14233159	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv1023303	chr9:14025605-14286269	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv540069	chr9:14025605-14286269	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1029491	chr9:14033607-14942373	Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv429998	chr9:14043516-14214688	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv892596	chr9:14145487-14208724	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv892597	chr9:14163383-14233159	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14123800-14198600	Weak transcription	Gastric	stomach
2	chr9:14165800-14181800	Weak transcription	Psoas Muscle	Psoas
3	chr9:14166200-14183200	Weak transcription	Esophagus	oesophagus
4	chr9:14170400-14186200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr9:14172200-14181800	Weak transcription	Right Ventricle	heart
6	chr9:14177200-14203400	Weak transcription	Fetal Muscle Trunk	muscle
7	chr9:14179000-14181600	Enhancers	A549	lung
8	chr9:14179600-14183400	Enhancers	Fetal Heart	heart
9	chr9:14179600-14183400	Enhancers	NH-A	brain
10	chr9:14180000-14183400	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr9:14180200-14182000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr9:14180200-14182000	Enhancers	Fetal Stomach	stomach
13	chr9:14180200-14182000	Flanking Active TSS	HMEC	breast
14	chr9:14180400-14181600	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr9:14180400-14181600	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr9:14180600-14181600	Active TSS	Colon Smooth Muscle	Colon
17	chr9:14180600-14181600	Active TSS	NHLF	lung
18	chr9:14180600-14181800	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr9:14180600-14181800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr9:14180600-14181800	Active TSS	Stomach Smooth Muscle	stomach
21	chr9:14180600-14182000	Flanking Active TSS	NHEK	skin
22	chr9:14180800-14181600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr9:14180800-14181600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
24	chr9:14180800-14181600	Active TSS	Brain Anterior Caudate	brain
25	chr9:14180800-14181600	Flanking Active TSS	Brain Hippocampus Middle	brain
26	chr9:14180800-14181600	Active TSS	NHDF-Ad	bronchial
27	chr9:14180800-14182200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr9:14180800-14183600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr9:14181000-14181600	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr9:14181000-14181600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr9:14181000-14181600	Active TSS	Ovary	ovary
32	chr9:14181000-14181600	Active TSS	Rectal Mucosa Donor 29	rectum
33	chr9:14181000-14181600	Active TSS	Osteobl	bone
34	chr9:14181000-14181800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr9:14181000-14181800	Weak transcription	Left Ventricle	heart
36	chr9:14181000-14181800	Active TSS	Right Atrium	heart
37	chr9:14181000-14182400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr9:14181000-14182400	Weak transcription	Fetal Brain Male	brain
39	chr9:14181000-14189200	Weak transcription	Fetal Muscle Leg	muscle
40	chr9:14181000-14189200	Weak transcription	Small Intestine	intestine
41	chr9:14181000-14192400	Weak transcription	Pancreas	Pancrea
42	chr9:14181200-14181600	Active TSS	Brain Cingulate Gyrus	brain
43	chr9:14181200-14182000	Flanking Active TSS	HUVEC	blood vessel
44	chr9:14181200-14182400	Enhancers	Fetal Brain Female	brain
45	chr9:14181200-14182800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr9:14181400-14181600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr9:14181400-14181600	Weak transcription	Aorta	Aorta
48	chr9:14181400-14181600	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr9:14181400-14181800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr9:14181400-14181800	Weak transcription	Brain Germinal Matrix	brain

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