Variant report

Variant	nsv1021471
Chromosome Location	chr7:15747683-15766484
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:15758705..15760238-chr7:15762223..15764953,2	K562	blood:
2	chr7:15760649..15761697-chr7:16110615..16111343,3	MCF-7	breast:
3	chr7:15344361..15344992-chr7:15760353..15761140,2	MCF-7	breast:
4	chr7:15757039..15758672-chr7:15760864..15763704,2	K562	blood:
5	chr7:15365379..15366315-chr7:15760483..15761223,4	MCF-7	breast:
6	chr7:15344411..15345401-chr7:15760276..15761708,4	MCF-7	breast:
7	chr7:15702914..15705810-chr7:15749778..15751853,2	K562	blood:
8	chr7:15744130..15746102-chr7:15747720..15750645,2	K562	blood:
9	chr7:15543347..15544306-chr7:15760242..15761135,3	MCF-7	breast:
10	chr7:15758705..15760238-chr7:15762223..15764953,2	K562	blood:
11	chr7:15757039..15758672-chr7:15760864..15763704,2	K562	blood:
12	chr7:15365412..15365978-chr7:15759570..15760468,2	MCF-7	breast:
13	chr7:14757083..14757697-chr7:15760291..15761216,2	MCF-7	breast:
14	chr7:15760297..15761259-chr7:15928859..15929813,2	MCF-7	breast:
15	chr7:15364860..15366538-chr7:15760053..15761291,7	MCF-7	breast:

No data

Extended variants
information (count: 719 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:719 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17150130	chr7:15747683-15747684	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs565329967	chr7:15747715-15747716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577119524	chr7:15747726-15747727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541138741	chr7:15747742-15747743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs144501736	chr7:15747820-15747821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs13228660	chr7:15747840-15747841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs6975715	chr7:15747841-15747842	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs56231386	chr7:15747845-15747846	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs17150137	chr7:15747848-15747849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187991775	chr7:15747852-15747853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs531277331	chr7:15747860-15747861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs191661891	chr7:15747868-15747869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs566610149	chr7:15747881-15747882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183171171	chr7:15747914-15747915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs538596147	chr7:15747920-15747921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7807843	chr7:15747947-15747948	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs148416330	chr7:15747971-15747972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534054920	chr7:15747986-15747987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554835598	chr7:15748001-15748002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs73056408	chr7:15748005-15748006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs561602358	chr7:15748020-15748021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537357424	chr7:15748038-15748039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs117115482	chr7:15748080-15748081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577184927	chr7:15748081-15748082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs540999979	chr7:15748085-15748086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs35319579	chr7:15748134-15748135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs537727063	chr7:15748178-15748179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs199685425	chr7:15748236-15748237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557402603	chr7:15748237-15748238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs187873012	chr7:15748278-15748279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs574627577	chr7:15748340-15748341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs75931264	chr7:15748389-15748390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs114133491	chr7:15748394-15748395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530960990	chr7:15748423-15748424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs145988889	chr7:15748465-15748466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs192597035	chr7:15748480-15748481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs532165346	chr7:15748514-15748515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs183715642	chr7:15748527-15748528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs565661107	chr7:15748531-15748532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs34824886	chr7:15748588-15748589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549085101	chr7:15748598-15748599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs567614255	chr7:15748614-15748615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs569844510	chr7:15748661-15748662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs536812287	chr7:15748688-15748689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs77897474	chr7:15748689-15748690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs576190303	chr7:15748797-15748798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs570441702	chr7:15748838-15748839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs534589851	chr7:15748911-15748912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs552990368	chr7:15748957-15748958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs574488760	chr7:15748971-15748972	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
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
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	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
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Bladder cancer	21909424	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:15746800-15750600	Enhancers	HUVEC	blood vessel
2	chr7:15749200-15750200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr7:15749400-15750200	Enhancers	Muscle Satellite Cultured Cells	--
4	chr7:15749800-15750200	Enhancers	NHDF-Ad	bronchial
5	chr7:15750200-15761000	Weak transcription	NHDF-Ad	bronchial
6	chr7:15750600-15754200	Weak transcription	HUVEC	blood vessel
7	chr7:15754200-15755000	Enhancers	HUVEC	blood vessel
8	chr7:15754600-15755200	Enhancers	Fetal Heart	heart
9	chr7:15755000-15756000	Weak transcription	HUVEC	blood vessel
10	chr7:15756000-15756600	Enhancers	HUVEC	blood vessel
11	chr7:15756600-15759800	Weak transcription	HUVEC	blood vessel
12	chr7:15758600-15759200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:15758800-15759000	Active TSS	Osteobl	bone
14	chr7:15758800-15759400	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr7:15758800-15759400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr7:15759000-15759200	Flanking Active TSS	Osteobl	bone
17	chr7:15759000-15759400	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr7:15759200-15760000	Weak transcription	Osteobl	bone
19	chr7:15759200-15760200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:15759400-15760800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr7:15759400-15764000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr7:15759400-15764000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr7:15759800-15761800	Enhancers	HUVEC	blood vessel
24	chr7:15760000-15761600	Enhancers	Osteobl	bone
25	chr7:15760200-15761600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr7:15760800-15761400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr7:15760800-15761600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr7:15760800-15761600	Enhancers	Muscle Satellite Cultured Cells	--
29	chr7:15761000-15761600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:15761000-15761600	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr7:15761000-15761600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr7:15761000-15761600	Enhancers	NHDF-Ad	bronchial
33	chr7:15761200-15761600	Enhancers	Primary hematopoietic stem cells	blood
34	chr7:15761600-15763000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr7:15761600-15763000	Weak transcription	NHDF-Ad	bronchial
36	chr7:15763000-15763600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr7:15763000-15764200	Enhancers	NHDF-Ad	bronchial
38	chr7:15763200-15764200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr7:15763200-15765600	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr7:15763400-15764000	Enhancers	Fetal Muscle Leg	muscle
41	chr7:15763800-15765000	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr7:15763800-15765200	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr7:15763800-15765600	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr7:15764000-15764400	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr7:15764000-15765800	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr7:15764200-15765200	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr7:15764400-15764600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr7:15764400-15764800	Enhancers	Fetal Intestine Small	intestine
49	chr7:15764600-15765200	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr7:15764800-15765800	Weak transcription	Fetal Intestine Small	intestine

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