Variant report

Variant	rs73718047
Chromosome Location	chr7:122524883-122524884
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:122521246..122525169-chr7:122525278..122528321,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000081803	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs56029436	1.00[AMR][1000 genomes]
rs56148137	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56150634	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56380009	1.00[AMR][1000 genomes]
rs56413347	1.00[AMR][1000 genomes]
rs57823101	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58138081	1.00[AMR][1000 genomes]
rs58923447	1.00[AMR][1000 genomes]
rs60519662	1.00[AMR][1000 genomes]
rs6466840	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73718003	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73718004	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73718005	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73718007	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73718011	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73718013	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73718015	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73718017	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73718019	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73718020	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73718021	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73718022	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73718023	1.00[AMR][1000 genomes]
rs73718024	1.00[AMR][1000 genomes]
rs73718026	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73718027	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73718028	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73718030	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73718032	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73718044	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73719745	1.00[AMR][1000 genomes]
rs73719762	1.00[AMR][1000 genomes]
rs73719765	1.00[AMR][1000 genomes]
rs73719766	1.00[AMR][1000 genomes]
rs73719767	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73719769	1.00[AMR][1000 genomes]
rs73719770	1.00[AMR][1000 genomes]
rs73719772	1.00[AMR][1000 genomes]
rs73719774	0.82[AFR][1000 genomes]
rs7787644	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532178	chr7:122203056-122978846	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv532179	chr7:122249639-122986259	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv532181	chr7:122291571-122684719	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
4	nsv532218	chr7:122360779-122934247	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1033520	chr7:122366544-122992937	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv949059	chr7:122386967-123066042	Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv948531	chr7:122386967-123191974	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
8	nsv949180	chr7:122386967-123237070	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
9	nsv524192	chr7:122403421-123218522	Enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
10	nsv498124	chr7:122412493-122986259	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:122496200-122525600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:122520600-122525400	Weak transcription	Small Intestine	intestine
3	chr7:122520800-122525000	Weak transcription	Brain Anterior Caudate	brain
4	chr7:122521600-122525200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr7:122521600-122525200	Weak transcription	NHLF	lung
6	chr7:122521800-122525400	Weak transcription	Gastric	stomach
7	chr7:122522800-122525000	Enhancers	Fetal Heart	heart
8	chr7:122522800-122527400	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr7:122523000-122525200	Weak transcription	Left Ventricle	heart
10	chr7:122523000-122527400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr7:122523200-122525200	Weak transcription	Aorta	Aorta
12	chr7:122523200-122525200	Weak transcription	Pancreas	Pancrea
13	chr7:122523200-122527600	Active TSS	Fetal Kidney	kidney
14	chr7:122523400-122525200	Enhancers	Liver	Liver
15	chr7:122523600-122525400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr7:122523800-122525400	Weak transcription	Hela-S3	cervix
17	chr7:122524000-122525200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:122524000-122525200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr7:122524000-122526000	Active TSS	Right Atrium	heart
20	chr7:122524000-122527400	Active TSS	Placenta Amnion	Placenta Amnion
21	chr7:122524200-122525000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
22	chr7:122524200-122525200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
23	chr7:122524200-122525200	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr7:122524200-122525200	Flanking Active TSS	HepG2	liver
25	chr7:122524400-122525800	Flanking Active TSS	HUVEC	blood vessel
26	chr7:122524400-122527600	Active TSS	Brain Angular Gyrus	brain
27	chr7:122524400-122527600	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr7:122524400-122527600	Active TSS	Ovary	ovary
29	chr7:122524600-122525000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
30	chr7:122524600-122525000	Weak transcription	Duodenum Mucosa	Duodenum
31	chr7:122524600-122525000	Weak transcription	Stomach Mucosa	stomach
32	chr7:122524600-122525200	Active TSS	Adipose Nuclei	Adipose
33	chr7:122524600-122525200	Enhancers	Colon Smooth Muscle	Colon
34	chr7:122524800-122525000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
35	chr7:122524800-122525200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
36	chr7:122524800-122525200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
37	chr7:122524800-122525200	Enhancers	Brain Hippocampus Middle	brain
38	chr7:122524800-122525200	Enhancers	Fetal Intestine Large	intestine
39	chr7:122524800-122525400	Flanking Active TSS	Fetal Lung	lung
40	chr7:122524800-122525600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr7:122524800-122527600	Active TSS	Stomach Smooth Muscle	stomach

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