Variant report

Variant	nsv970446
Chromosome Location	chr7:11043023-11047530
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr7:11043669-11043961	HepG2	liver:	n/a	chr7:11043824-11043835
2	FOXA1	chr7:11043723-11044121	HepG2	liver:	n/a	n/a
3	POLR2A	chr7:11043708-11043821	Gliobla	brain:	n/a	n/a
4	POLR2A	chr7:11046468-11046474	A549	lung:	n/a	n/a
5	POLR2A	chr7:11043640-11043672	Gliobla	brain:	n/a	n/a
6	STAT3	chr7:11044027-11044034	MCF10A-Er-Src	breast:	n/a	n/a
7	STAT3	chr7:11044047-11044158	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:11035549..11039203-chr7:11040306..11043561,4	K562	blood:
2	chr7:11013556..11016152-chr7:11041534..11043076,2	MCF-7	breast:
3	chr7:11013088..11016193-chr7:11045661..11047742,3	MCF-7	breast:
4	chr7:11034938..11037740-chr7:11039775..11043561,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NDUFA4-3	chr7:11046026-11046503	NONHSAT119197

No data

Variant related genes	Relation type
ENSG00000230370	TF binding region
ENSG00000106443	chromatin interactions

Extended variants
information (count: 228 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:228 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73063418	chr7:11043039-11043040	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs75764265	chr7:11043053-11043054	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs75890304	chr7:11043054-11043055	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538417519	chr7:11043085-11043086	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539069393	chr7:11043141-11043142	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs559013670	chr7:11043156-11043157	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185731254	chr7:11043163-11043164	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538278854	chr7:11043165-11043166	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376617625	chr7:11043171-11043172	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs111861141	chr7:11043254-11043255	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs117491489	chr7:11043330-11043331	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540949187	chr7:11043341-11043342	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs4720927	chr7:11043368-11043369	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs79000237	chr7:11043375-11043376	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546033403	chr7:11043382-11043383	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs193178916	chr7:11043386-11043387	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565036307	chr7:11043413-11043414	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567464165	chr7:11043418-11043419	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs530510042	chr7:11043447-11043448	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs114870424	chr7:11043489-11043490	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs560575093	chr7:11043506-11043507	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs529610988	chr7:11043507-11043508	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs77801652	chr7:11043550-11043551	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs376013618	chr7:11043552-11043553	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs566604507	chr7:11043569-11043570	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs113572603	chr7:11043573-11043574	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs139983233	chr7:11043599-11043600	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs569369312	chr7:11043600-11043601	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537930900	chr7:11043613-11043614	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs575027458	chr7:11043673-11043674	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs145410191	chr7:11043680-11043681	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs534142024	chr7:11043687-11043688	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs184447084	chr7:11043706-11043707	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs117665999	chr7:11043709-11043710	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs220092	chr7:11043718-11043719	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs556461837	chr7:11043725-11043726	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567174918	chr7:11043729-11043730	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs575323057	chr7:11043746-11043747	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs188450343	chr7:11043820-11043821	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs13241669	chr7:11043838-11043839	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11976137	chr7:11043852-11043853	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs13241568	chr7:11043854-11043855	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs13241581	chr7:11043880-11043881	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs55917513	chr7:11043895-11043896	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369355330	chr7:11043897-11043898	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs76602008	chr7:11043898-11043899	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560611802	chr7:11043916-11043917	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs13241687	chr7:11043932-11043933	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs56235368	chr7:11043979-11043980	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75774863	chr7:11043991-11043992	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	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
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	22522925	CNVD
Lung adenocarcinoma	21935476	CNVD
Gastric cancer	22014070	CNVD

Chromatin state (count:185 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11014600-11045400	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr7:11014600-11092000	Weak transcription	Colonic Mucosa	Colon
3	chr7:11014800-11054200	Weak transcription	NHLF	lung
4	chr7:11014800-11075200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr7:11014800-11117400	Weak transcription	HSMMtube	muscle
6	chr7:11015000-11064000	Weak transcription	Colon Smooth Muscle	Colon
7	chr7:11015200-11108200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr7:11016800-11057200	Weak transcription	Fetal Brain Male	brain
9	chr7:11017200-11076000	Weak transcription	HUVEC	blood vessel
10	chr7:11018600-11063800	Weak transcription	Brain Angular Gyrus	brain
11	chr7:11022800-11044800	Weak transcription	Hela-S3	cervix
12	chr7:11022800-11071000	Weak transcription	Right Ventricle	heart
13	chr7:11023000-11053600	Weak transcription	Primary B cells from peripheral blood	blood
14	chr7:11023200-11076200	Weak transcription	NH-A	brain
15	chr7:11023600-11053600	Weak transcription	Fetal Kidney	kidney
16	chr7:11031600-11103800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr7:11033200-11053600	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr7:11033400-11053600	Weak transcription	HSMM	muscle
19	chr7:11033800-11045600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr7:11033800-11053600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr7:11034400-11053400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr7:11034800-11064200	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr7:11035000-11047000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr7:11035200-11053600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr7:11035400-11046000	Weak transcription	Fetal Brain Female	brain
26	chr7:11035400-11054200	Weak transcription	Pancreas	Pancrea
27	chr7:11035400-11064000	Weak transcription	Brain Germinal Matrix	brain
28	chr7:11035600-11043400	Weak transcription	Fetal Thymus	thymus
29	chr7:11035600-11048000	Weak transcription	Gastric	stomach
30	chr7:11035800-11046000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr7:11035800-11046000	Weak transcription	Aorta	Aorta
32	chr7:11035800-11046000	Weak transcription	Fetal Muscle Leg	muscle
33	chr7:11035800-11047800	Weak transcription	Ovary	ovary
34	chr7:11035800-11053400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr7:11035800-11053400	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr7:11035800-11053600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr7:11035800-11054000	Weak transcription	Fetal Muscle Trunk	muscle
38	chr7:11035800-11054200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr7:11035800-11057200	Weak transcription	Spleen	Spleen
40	chr7:11035800-11063000	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr7:11035800-11063800	Weak transcription	Brain Hippocampus Middle	brain
42	chr7:11035800-11076000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr7:11035800-11092600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr7:11035800-11113000	Weak transcription	Esophagus	oesophagus
45	chr7:11035800-11113200	Weak transcription	Lung	lung
46	chr7:11035800-11123000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr7:11036000-11044800	Weak transcription	A549	lung
48	chr7:11036000-11053600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr7:11036000-11101600	Weak transcription	Placenta	Placenta
50	chr7:11036200-11046000	Weak transcription	Thymus	Thymus

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