Variant report

Variant	rs73411993
Chromosome Location	chr9:14180616-14180617
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: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs60113220	1.00[AMR][1000 genomes]
rs6474819	1.00[AMR][1000 genomes]
rs73409955	1.00[AMR][1000 genomes]
rs73411960	1.00[AMR][1000 genomes]
rs73411973	1.00[AMR][1000 genomes]
rs73411975	1.00[AMR][1000 genomes]
rs73411977	1.00[AMR][1000 genomes]
rs7846937	1.00[AMR][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:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14123800-14198600	Weak transcription	Gastric	stomach
2	chr9:14134000-14181000	Weak transcription	Ovary	ovary
3	chr9:14160600-14181400	Weak transcription	HSMM	muscle
4	chr9:14165800-14181800	Weak transcription	Psoas Muscle	Psoas
5	chr9:14166200-14183200	Weak transcription	Esophagus	oesophagus
6	chr9:14170400-14186200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr9:14171800-14180800	Weak transcription	Osteobl	bone
8	chr9:14172200-14181800	Weak transcription	Right Ventricle	heart
9	chr9:14176600-14180800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr9:14177200-14203400	Weak transcription	Fetal Muscle Trunk	muscle
11	chr9:14178000-14181400	Enhancers	Stomach Mucosa	stomach
12	chr9:14178800-14181400	Active TSS	Aorta	Aorta
13	chr9:14179000-14181600	Enhancers	A549	lung
14	chr9:14179600-14181000	Genic enhancers	Fetal Lung	lung
15	chr9:14179600-14183400	Enhancers	Fetal Heart	heart
16	chr9:14179600-14183400	Enhancers	NH-A	brain
17	chr9:14180000-14180800	Enhancers	Brain Hippocampus Middle	brain
18	chr9:14180000-14181400	Flanking Active TSS	Liver	Liver
19	chr9:14180000-14183400	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr9:14180200-14180800	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr9:14180200-14180800	Enhancers	Right Atrium	heart
22	chr9:14180200-14181000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr9:14180200-14181000	Enhancers	Brain Angular Gyrus	brain
24	chr9:14180200-14181000	Flanking Active TSS	Fetal Brain Male	brain
25	chr9:14180200-14181000	Enhancers	Fetal Muscle Leg	muscle
26	chr9:14180200-14181000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
27	chr9:14180200-14181000	Enhancers	Small Intestine	intestine
28	chr9:14180200-14181200	Active TSS	Colonic Mucosa	Colon
29	chr9:14180200-14182000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr9:14180200-14182000	Enhancers	Fetal Stomach	stomach
31	chr9:14180200-14182000	Flanking Active TSS	HMEC	breast
32	chr9:14180400-14180800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr9:14180400-14180800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr9:14180400-14180800	Flanking Active TSS	Rectal Smooth Muscle	rectum
35	chr9:14180400-14181000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr9:14180400-14181000	Flanking Active TSS	Brain Substantia Nigra	brain
37	chr9:14180400-14181000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
38	chr9:14180400-14181200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr9:14180400-14181200	Flanking Active TSS	Duodenum Mucosa	Duodenum
40	chr9:14180400-14181200	Flanking Active TSS	Fetal Brain Female	brain
41	chr9:14180400-14181600	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr9:14180400-14181600	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr9:14180600-14180800	Enhancers	Muscle Satellite Cultured Cells	--
44	chr9:14180600-14180800	Flanking Active TSS	Brain Anterior Caudate	brain
45	chr9:14180600-14180800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr9:14180600-14180800	Weak transcription	HUVEC	blood vessel
47	chr9:14180600-14181000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr9:14180600-14181000	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr9:14180600-14181000	Enhancers	Left Ventricle	heart
50	chr9:14180600-14181000	Enhancers	Pancreas	Pancrea

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