Variant report

Variant	esv3413769
Chromosome Location	chr7:47707627-47710525
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:47682190..47683735-chr7:47709355..47711921,2	MCF-7	breast:
2	chr7:47691927..47694720-chr7:47708904..47710828,2	MCF-7	breast:
3	chr7:47662894..47665342-chr7:47707411..47709847,2	MCF-7	breast:
4	chr7:47672802..47676039-chr7:47707333..47710089,3	MCF-7	breast:
5	chr7:47685575..47687990-chr7:47705109..47707807,2	MCF-7	breast:
6	chr7:47704100..47706174-chr7:47707596..47709114,2	MCF-7	breast:
7	chr7:47620142..47622766-chr7:47707651..47710546,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136205	chromatin interactions

Extended variants
information (count: 130 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370041234	chr7:47707629-47707630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs397964137	chr7:47707654-47707655	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs201891043	chr7:47707655-47707656	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs555365832	chr7:47707707-47707708	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs34748573	chr7:47707744-47707745	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs371581766	chr7:47707756-47707757	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs80126975	chr7:47707789-47707790	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs564360782	chr7:47707807-47707808	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs73103401	chr7:47707811-47707812	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs574018734	chr7:47707833-47707834	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs73336473	chr7:47707856-47707857	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs544206415	chr7:47707864-47707865	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs546782290	chr7:47707867-47707868	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs567200734	chr7:47707911-47707912	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs577476840	chr7:47707938-47707939	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs139567863	chr7:47707940-47707941	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs34330229	chr7:47707954-47707955	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs567932897	chr7:47707958-47707959	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs149284574	chr7:47707996-47707997	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs557050847	chr7:47708017-47708018	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs562441387	chr7:47708027-47708028	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs186093570	chr7:47708029-47708030	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs552886530	chr7:47708037-47708038	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs573117580	chr7:47708040-47708041	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs35831404	chr7:47708117-47708118	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs148472218	chr7:47708120-47708121	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs555747269	chr7:47708139-47708140	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs575205079	chr7:47708160-47708161	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs145049927	chr7:47708182-47708183	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs532974744	chr7:47708234-47708235	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs533250715	chr7:47708287-47708288	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs540849621	chr7:47708331-47708332	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs566082412	chr7:47708365-47708366	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs147557058	chr7:47708379-47708380	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs529609515	chr7:47708400-47708401	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs549386334	chr7:47708516-47708517	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs541663220	chr7:47708522-47708523	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs3934868	chr7:47708525-47708526	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs530479395	chr7:47708555-47708556	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs140439083	chr7:47708590-47708591	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs544739893	chr7:47708591-47708592	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs144299282	chr7:47708593-47708594	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs189625580	chr7:47708594-47708595	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs566514332	chr7:47708617-47708618	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs181952127	chr7:47708620-47708621	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs560198735	chr7:47708693-47708694	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs371523670	chr7:47708732-47708733	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs537897385	chr7:47708745-47708746	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs557708549	chr7:47708754-47708755	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs577750004	chr7:47708758-47708759	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:122)

Disease	PMID	Source
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Biliary cancer	19435499	CNVD
Wilms tumour	21544195	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Autism	22495311	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	17237825	CNVD
Gastric cancer	24379144	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Abnormal phenotypes	18644119	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal cancer	21851588	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Non-small cell lung cancer	17643093	CNVD
Ovarian cancer	18182111	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17369134	CNVD
Barrett''s esophagus	18559552	CNVD
head and neck squamous cell carcinoma	16943533	CNVD
Anaplastic thyroid cancer	17079354	CNVD
Basal-like breast cancer	17875215	CNVD
Colorectal cancer	16882699	CNVD
Colorectal cancer	18794099	CNVD
Gastrointestinal stromal cancer	17643098	CNVD
Lung cancer	18381415	CNVD
Metastatic colorectal cancer	17664472	CNVD
Non-small cell lung cancer	19255323	CNVD
Non-small cell lung cancer	17673923	CNVD
Non-small cell lung cancer	17975165	CNVD
Non-small cell lung cancer	19622585	CNVD
Ovarian cancer	16607561	CNVD
Squamous cell cancer	19670535	CNVD
head and neck squamous cell carcinoma	16818711	CNVD
small cell lung cancer	18829487	CNVD
Breast cancer	17661082	CNVD
Adenocarcinoma	19260752	CNVD
Esophageal cancer	16575012	CNVD
Lung adenocarcinoma	19138956	CNVD
Lung adenocarcinoma	18379350	CNVD
Lung adenocarcinoma	18258923	CNVD
Lung cancer	19138956	CNVD
Lung cancer	18379350	CNVD
Lung cancer	18258923	CNVD
Non-small cell lung cancer	18304967	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	19260752	CNVD
Non-small cell lung cancer	17079354	CNVD
Non-small cell lung cancer	18559607	CNVD
Rectal cancer	19506820	CNVD
Triple-negative breast cancer	18950515	CNVD
head and neck squamous cell carcinoma	18813952	CNVD
Non-small cell lung cancer	17504988	CNVD
Non-small cell lung cancer	16943533	CNVD
Non-small cell lung cancer	18509184	CNVD
head and neck squamous cell carcinoma	17538160	CNVD
Colorectal cancer	19712476	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19671679	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21509527	CNVD
Pancreatic cancer	17952125	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD

Chromatin state (count:173 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47695000-47711000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:47700000-47708800	Weak transcription	Spleen	Spleen
3	chr7:47701000-47708800	Weak transcription	Right Ventricle	heart
4	chr7:47701600-47708400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:47701600-47708800	Weak transcription	Fetal Kidney	kidney
6	chr7:47701600-47709000	Weak transcription	Lung	lung
7	chr7:47701800-47707800	Weak transcription	Primary B cells from cord blood	blood
8	chr7:47702600-47708200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr7:47703600-47708800	Weak transcription	Psoas Muscle	Psoas
10	chr7:47703800-47708600	Weak transcription	Duodenum Mucosa	Duodenum
11	chr7:47703800-47708600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr7:47703800-47708800	Weak transcription	Liver	Liver
13	chr7:47703800-47709000	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr7:47704600-47710400	Weak transcription	Fetal Lung	lung
15	chr7:47705000-47708800	Weak transcription	Fetal Muscle Leg	muscle
16	chr7:47705200-47709000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr7:47705800-47708000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:47706000-47721600	Enhancers	Placenta	Placenta
19	chr7:47706200-47708800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr7:47706200-47709000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr7:47706400-47708600	Weak transcription	A549	lung
22	chr7:47706600-47708600	Weak transcription	Fetal Thymus	thymus
23	chr7:47706600-47708800	Weak transcription	Pancreas	Pancrea
24	chr7:47706600-47708800	Weak transcription	NHDF-Ad	bronchial
25	chr7:47706600-47709000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr7:47706600-47709000	Weak transcription	Fetal Intestine Small	intestine
27	chr7:47706800-47708600	Weak transcription	Aorta	Aorta
28	chr7:47706800-47708800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr7:47706800-47708800	Weak transcription	HepG2	liver
30	chr7:47706800-47708800	Weak transcription	HSMMtube	muscle
31	chr7:47706800-47708800	Weak transcription	NH-A	brain
32	chr7:47706800-47709000	Weak transcription	NHLF	lung
33	chr7:47706800-47709200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr7:47707000-47708400	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr7:47707200-47708400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr7:47707200-47708600	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr7:47707200-47708600	Weak transcription	HSMM	muscle
38	chr7:47707200-47708800	Weak transcription	Osteobl	bone
39	chr7:47707400-47708400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr7:47707400-47708800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr7:47707400-47713000	Weak transcription	Fetal Intestine Large	intestine
42	chr7:47707600-47708600	Weak transcription	Primary hematopoietic stem cells	blood
43	chr7:47707600-47714400	Enhancers	Primary B cells from peripheral blood	blood
44	chr7:47707800-47709000	Enhancers	Primary B cells from cord blood	blood
45	chr7:47708000-47708600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr7:47708200-47708600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr7:47708400-47708600	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr7:47708400-47708800	Enhancers	Hela-S3	cervix
49	chr7:47708400-47709000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr7:47708400-47709200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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