Variant report

Variant	nsv971568
Chromosome Location	chr7:122481810-122484638
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:122471973..122475729-chr7:122484629..122488935,3	MCF-7	breast:
2	chr7:122483143..122485209-chr7:122487221..122489725,2	MCF-7	breast:
3	chr7:122473308..122475619-chr7:122484474..122486171,2	MCF-7	breast:
4	chr7:122450452..122452718-chr7:122483355..122485678,2	MCF-7	breast:
5	chr7:122484466..122486591-chr7:122487501..122489020,2	MCF-7	breast:
6	chr7:122473493..122475814-chr7:122480570..122483503,2	MCF-7	breast:
7	chr7:122484005..122486884-chr7:122524580..122527500,2	MCF-7	breast:
8	chr7:122482166..122484643-chr7:122531331..122532997,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000081803	chromatin interactions

Extended variants
information (count: 109 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568783678	chr7:122481847-122481848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs117499731	chr7:122481851-122481852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190349363	chr7:122481876-122481877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs77899097	chr7:122481877-122481878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs140931285	chr7:122481878-122481879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs374840896	chr7:122481879-122481880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575042482	chr7:122481907-122481908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs375437393	chr7:122481969-122481970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558537992	chr7:122481974-122481975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575418951	chr7:122481981-122481982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs369585808	chr7:122482085-122482086	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544313072	chr7:122482095-122482096	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs147792009	chr7:122482098-122482099	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs141248907	chr7:122482102-122482103	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540554920	chr7:122482157-122482158	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560202131	chr7:122482170-122482171	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532408137	chr7:122482186-122482187	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs551488378	chr7:122482189-122482190	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs34102364	chr7:122482195-122482196	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs146921647	chr7:122482202-122482203	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546007035	chr7:122482221-122482222	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73718026	chr7:122482249-122482250	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs567549390	chr7:122482252-122482253	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs147983252	chr7:122482267-122482268	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs553500686	chr7:122482294-122482295	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs372247624	chr7:122482311-122482312	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567077392	chr7:122482344-122482345	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs539276780	chr7:122482345-122482346	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs558624129	chr7:122482359-122482360	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs575307027	chr7:122482391-122482392	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs140857000	chr7:122482437-122482438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs35808900	chr7:122482495-122482496	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs574439876	chr7:122482538-122482539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs181685157	chr7:122482555-122482556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs150165372	chr7:122482571-122482572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs536563747	chr7:122482572-122482573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs138669077	chr7:122482680-122482681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs545684503	chr7:122482767-122482768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs564986948	chr7:122482794-122482795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs185740524	chr7:122482838-122482839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs530793260	chr7:122482891-122482892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs554862119	chr7:122482953-122482954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs17684427	chr7:122482977-122482978	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs530184098	chr7:122482986-122482987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs112162142	chr7:122482995-122482996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs567042015	chr7:122483037-122483038	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs546378248	chr7:122483066-122483067	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs17145002	chr7:122483098-122483099	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs552880877	chr7:122483127-122483128	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs376679409	chr7:122483167-122483168	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Acute monocytic leukemia	16498392	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:122444200-122483800	Weak transcription	Left Ventricle	heart
2	chr7:122465400-122496000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr7:122470200-122483800	Weak transcription	Pancreas	Pancrea
4	chr7:122475200-122483600	Weak transcription	Gastric	stomach
5	chr7:122475200-122483600	Weak transcription	HepG2	liver
6	chr7:122479200-122488000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr7:122480800-122483800	Weak transcription	Ovary	ovary
8	chr7:122481000-122482000	Weak transcription	Fetal Lung	lung
9	chr7:122481000-122493800	Weak transcription	Aorta	Aorta
10	chr7:122481200-122483800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr7:122481600-122482200	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr7:122482000-122482400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr7:122482000-122482400	Genic enhancers	Fetal Lung	lung
14	chr7:122482000-122482400	Enhancers	Lung	lung
15	chr7:122482200-122484000	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr7:122482200-122488200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr7:122482400-122483000	Enhancers	Fetal Lung	lung
18	chr7:122482400-122483800	Weak transcription	Lung	lung
19	chr7:122482400-122489800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr7:122482800-122483600	Enhancers	Placenta Amnion	Placenta Amnion
21	chr7:122483000-122483200	Flanking Active TSS	Fetal Lung	lung
22	chr7:122483200-122483400	Enhancers	Fetal Lung	lung
23	chr7:122483200-122484000	Enhancers	HUVEC	blood vessel
24	chr7:122483400-122483600	Flanking Active TSS	Fetal Lung	lung
25	chr7:122483400-122484200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr7:122483600-122484200	Enhancers	Gastric	stomach
27	chr7:122483600-122484400	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr7:122483600-122486000	Enhancers	HepG2	liver
29	chr7:122483600-122490000	Enhancers	Fetal Lung	lung
30	chr7:122483800-122484000	Enhancers	Left Ventricle	heart
31	chr7:122483800-122484000	Genic enhancers	Lung	lung
32	chr7:122483800-122484000	Genic enhancers	Pancreas	Pancrea
33	chr7:122483800-122484200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr7:122483800-122484200	Enhancers	Ovary	ovary
35	chr7:122483800-122484400	Enhancers	H9 Cell Line	embryonic stem cell
36	chr7:122483800-122484400	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr7:122483800-122484400	Enhancers	Hela-S3	cervix
38	chr7:122484000-122484200	Genic enhancers	Left Ventricle	heart
39	chr7:122484000-122484200	Enhancers	Lung	lung
40	chr7:122484000-122484200	Enhancers	Pancreas	Pancrea
41	chr7:122484000-122484400	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr7:122484000-122484400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr7:122484000-122484800	Flanking Active TSS	HUVEC	blood vessel
44	chr7:122484200-122484400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr7:122484200-122485200	Weak transcription	Gastric	stomach
46	chr7:122484200-122485200	Weak transcription	Left Ventricle	heart
47	chr7:122484200-122488200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr7:122484200-122488200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr7:122484200-122489400	Weak transcription	Ovary	ovary
50	chr7:122484200-122489800	Weak transcription	Pancreas	Pancrea

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