Variant report

Variant	nsv1024027
Chromosome Location	chr7:47709936-47743485
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:47732465..47733984-chr7:47739980..47741778,2	MCF-7	breast:
2	chr7:47646097..47647972-chr7:47737601..47739251,2	MCF-7	breast:
3	chr7:47731657..47733270-chr7:47740448..47743349,2	MCF-7	breast:
4	chr7:47719300..47720946-chr7:47732065..47734145,2	MCF-7	breast:
5	chr7:47731019..47733171-chr7:47747681..47749285,2	MCF-7	breast:
6	chr7:47719300..47720946-chr7:47732065..47734145,2	MCF-7	breast:
7	chr7:47620142..47622766-chr7:47707651..47710546,2	MCF-7	breast:
8	chr7:47731657..47733270-chr7:47740448..47743349,2	MCF-7	breast:
9	chr7:47687322..47690027-chr7:47714537..47716150,2	MCF-7	breast:
10	chr7:47682190..47683735-chr7:47709355..47711921,2	MCF-7	breast:
11	chr7:47698031..47700145-chr7:47710791..47713137,2	MCF-7	breast:
12	chr7:47691927..47694720-chr7:47708904..47710828,2	MCF-7	breast:
13	chr7:47732465..47733984-chr7:47739980..47741778,2	MCF-7	breast:
14	chr7:47672802..47676039-chr7:47707333..47710089,3	MCF-7	breast:
15	chr7:47733692..47735989-chr7:47787740..47790017,2	MCF-7	breast:
16	chr7:47730789..47733579-chr7:47824840..47827791,2	MCF-7	breast:
17	chr7:47619426..47621699-chr7:47736196..47738585,2	MCF-7	breast:
18	chr7:47614357..47617342-chr7:47728067..47729946,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000136205	chromatin interactions

Extended variants
information (count: 1569 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:1569 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7812217	chr7:47709936-47709937	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs79034405	chr7:47709946-47709947	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs77740344	chr7:47709947-47709948	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs77296234	chr7:47709951-47709952	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs536733320	chr7:47709972-47709973	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs574982631	chr7:47709997-47709998	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs200765694	chr7:47710069-47710070	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs556809907	chr7:47710092-47710093	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs541520147	chr7:47710116-47710117	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs557036832	chr7:47710126-47710127	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs576680550	chr7:47710157-47710158	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs187398389	chr7:47710186-47710187	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs574866181	chr7:47710259-47710260	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs572688540	chr7:47710260-47710261	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs191877835	chr7:47710262-47710263	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs386712898	chr7:47710294-47710295	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs118065867	chr7:47710295-47710296	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs146698864	chr7:47710296-47710297	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs367782589	chr7:47710297-47710298	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs372802054	chr7:47710300-47710301	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs562347529	chr7:47710316-47710317	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs536690781	chr7:47710321-47710322	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs34628523	chr7:47710324-47710325	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs143000897	chr7:47710325-47710326	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs531364022	chr7:47710330-47710331	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs367968929	chr7:47710342-47710343	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs371758884	chr7:47710350-47710351	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs528360997	chr7:47710395-47710396	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs140703034	chr7:47710404-47710405	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs145656463	chr7:47710427-47710428	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs527558044	chr7:47710435-47710436	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs10951917	chr7:47710470-47710471	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs138203545	chr7:47710546-47710547	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs142899939	chr7:47710622-47710623	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs145056484	chr7:47710639-47710640	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs386712899	chr7:47710652-47710653	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs192787862	chr7:47710653-47710654	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs73105211	chr7:47710660-47710661	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs73697730	chr7:47710720-47710721	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs570182696	chr7:47710725-47710726	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs572684037	chr7:47710755-47710756	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs73105213	chr7:47710760-47710761	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs10046555	chr7:47710788-47710789	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs553510676	chr7:47710794-47710795	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs573536522	chr7:47710801-47710802	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs570906251	chr7:47710840-47710841	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs113561120	chr7:47710841-47710842	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs192688393	chr7:47710842-47710843	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs76150250	chr7:47710869-47710870	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs544829256	chr7:47710909-47710910	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	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:512 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47695000-47711000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:47704600-47710400	Weak transcription	Fetal Lung	lung
3	chr7:47706000-47721600	Enhancers	Placenta	Placenta
4	chr7:47707400-47713000	Weak transcription	Fetal Intestine Large	intestine
5	chr7:47707600-47714400	Enhancers	Primary B cells from peripheral blood	blood
6	chr7:47708400-47710000	Enhancers	Placenta Amnion	Placenta Amnion
7	chr7:47708400-47710600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:47708400-47711800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr7:47708600-47710000	Enhancers	A549	lung
10	chr7:47708600-47710000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr7:47708600-47710600	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr7:47708600-47710600	Enhancers	HSMM	muscle
13	chr7:47708600-47710800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:47708600-47711000	Enhancers	Primary hematopoietic stem cells	blood
15	chr7:47708600-47711000	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr7:47708600-47711200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr7:47708600-47711600	Enhancers	Fetal Thymus	thymus
18	chr7:47708800-47710000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:47708800-47710000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:47708800-47710000	Enhancers	Fetal Muscle Leg	muscle
21	chr7:47708800-47710000	Flanking Active TSS	GM12878-XiMat	blood
22	chr7:47708800-47710000	Enhancers	NHDF-Ad	bronchial
23	chr7:47708800-47710200	Enhancers	NH-A	brain
24	chr7:47708800-47710800	Enhancers	HepG2	liver
25	chr7:47709000-47710000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr7:47709000-47710000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr7:47709000-47710000	Enhancers	NHLF	lung
28	chr7:47709000-47710600	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr7:47709000-47711000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr7:47709200-47710000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr7:47709200-47710400	Weak transcription	Spleen	Spleen
32	chr7:47709200-47711600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr7:47709400-47710400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr7:47709400-47710400	Weak transcription	HSMMtube	muscle
35	chr7:47709400-47711800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr7:47709400-47712000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:47709600-47710000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr7:47709600-47710000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr7:47709600-47710400	Weak transcription	Fetal Intestine Small	intestine
40	chr7:47709600-47710600	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr7:47709600-47711000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr7:47709600-47711200	Enhancers	Hela-S3	cervix
43	chr7:47709600-47717000	Weak transcription	HMEC	breast
44	chr7:47709800-47710000	Enhancers	Muscle Satellite Cultured Cells	--
45	chr7:47709800-47710000	Enhancers	Osteobl	bone
46	chr7:47709800-47710200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr7:47709800-47710400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr7:47709800-47710600	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr7:47709800-47711200	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr7:47709800-47712000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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