Variant report

Variant	esv3326735
Chromosome Location	chr7:47708700-47709580
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant related genes	Relation type
ENSG00000136205	chromatin interactions

Extended variants
information (count: 35 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371523670	chr7:47708732-47708733	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs537897385	chr7:47708745-47708746	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs557708549	chr7:47708754-47708755	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs577750004	chr7:47708758-47708759	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs541957645	chr7:47708799-47708800	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs6953275	chr7:47708823-47708824	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs560762960	chr7:47708863-47708864	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs574105043	chr7:47708867-47708868	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs543317932	chr7:47708927-47708928	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs563213404	chr7:47708965-47708966	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs56031910	chr7:47709038-47709039	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs550620025	chr7:47709098-47709099	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs537624116	chr7:47709120-47709121	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs111511068	chr7:47709122-47709123	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs151103028	chr7:47709147-47709148	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs6975552	chr7:47709149-47709150	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs566661979	chr7:47709162-47709163	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs535254158	chr7:47709164-47709165	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs6957684	chr7:47709216-47709217	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs546462684	chr7:47709244-47709245	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs368507936	chr7:47709279-47709280	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs371840847	chr7:47709295-47709296	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs568842043	chr7:47709314-47709315	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs376606197	chr7:47709362-47709363	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs186292192	chr7:47709363-47709364	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs191122478	chr7:47709394-47709395	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs577589038	chr7:47709407-47709408	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs534306273	chr7:47709411-47709412	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs4418255	chr7:47709440-47709441	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs182438305	chr7:47709479-47709480	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs542897861	chr7:47709480-47709481	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs368105374	chr7:47709484-47709485	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs576840599	chr7:47709498-47709499	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs61357493	chr7:47709523-47709524	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs73105206	chr7:47709561-47709562	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	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:114 , 50 per page) page: 1 2 3

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	chr7:47701600-47708800	Weak transcription	Fetal Kidney	kidney
5	chr7:47701600-47709000	Weak transcription	Lung	lung
6	chr7:47703600-47708800	Weak transcription	Psoas Muscle	Psoas
7	chr7:47703800-47708800	Weak transcription	Liver	Liver
8	chr7:47703800-47709000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr7:47704600-47710400	Weak transcription	Fetal Lung	lung
10	chr7:47705000-47708800	Weak transcription	Fetal Muscle Leg	muscle
11	chr7:47705200-47709000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr7:47706000-47721600	Enhancers	Placenta	Placenta
13	chr7:47706200-47708800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:47706200-47709000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr7:47706600-47708800	Weak transcription	Pancreas	Pancrea
16	chr7:47706600-47708800	Weak transcription	NHDF-Ad	bronchial
17	chr7:47706600-47709000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr7:47706600-47709000	Weak transcription	Fetal Intestine Small	intestine
19	chr7:47706800-47708800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr7:47706800-47708800	Weak transcription	HepG2	liver
21	chr7:47706800-47708800	Weak transcription	HSMMtube	muscle
22	chr7:47706800-47708800	Weak transcription	NH-A	brain
23	chr7:47706800-47709000	Weak transcription	NHLF	lung
24	chr7:47706800-47709200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr7:47707200-47708800	Weak transcription	Osteobl	bone
26	chr7:47707400-47708800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr7:47707400-47713000	Weak transcription	Fetal Intestine Large	intestine
28	chr7:47707600-47714400	Enhancers	Primary B cells from peripheral blood	blood
29	chr7:47707800-47709000	Enhancers	Primary B cells from cord blood	blood
30	chr7:47708400-47708800	Enhancers	Hela-S3	cervix
31	chr7:47708400-47709000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr7:47708400-47709200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr7:47708400-47709400	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr7:47708400-47709600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr7:47708400-47710000	Enhancers	Placenta Amnion	Placenta Amnion
36	chr7:47708400-47710600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr7:47708400-47711800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr7:47708600-47708800	Enhancers	GM12878-XiMat	blood
39	chr7:47708600-47709000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr7:47708600-47709000	Enhancers	Muscle Satellite Cultured Cells	--
41	chr7:47708600-47709200	Enhancers	Duodenum Mucosa	Duodenum
42	chr7:47708600-47709600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr7:47708600-47709600	Enhancers	Adipose Nuclei	Adipose
44	chr7:47708600-47709600	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr7:47708600-47709800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr7:47708600-47709800	Enhancers	Aorta	Aorta
47	chr7:47708600-47709800	Enhancers	K562	blood
48	chr7:47708600-47710000	Enhancers	A549	lung
49	chr7:47708600-47710000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr7:47708600-47710600	Enhancers	Rectal Mucosa Donor 29	rectum

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