Variant report

Variant	nsv518779
Chromosome Location	chr7:8055664-8077359
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	chr7:8056984..8058673-chr7:8062180..8063751,2	MCF-7	breast:
2	chr7:8043881..8046196-chr7:8058398..8061346,2	MCF-7	breast:
3	chr7:8062440..8065234-chr7:8085232..8088218,2	MCF-7	breast:
4	chr7:8056984..8058673-chr7:8062180..8063751,2	MCF-7	breast:
5	chr7:8068288..8070626-chr7:8070654..8072447,2	K562	blood:
6	chr7:8058670..8060171-chr7:8065220..8067372,2	MCF-7	breast:
7	chr7:8068288..8070626-chr7:8070654..8072447,2	K562	blood:
8	chr7:7721232..7721744-chr7:8075592..8076157,2	MCF-7	breast:
9	chr7:8065280..8067044-chr7:8073345..8076327,2	MCF-7	breast:
10	chr7:8063593..8066315-chr7:8067381..8070107,2	MCF-7	breast:
11	chr7:8065280..8067044-chr7:8073345..8076327,2	MCF-7	breast:
12	chr12:34844822..34846343-chr7:8071587..8073511,2	MCF-7	breast:
13	chr7:8006781..8009686-chr7:8074600..8077237,3	MCF-7	breast:
14	chr7:8063593..8066315-chr7:8067381..8070107,2	MCF-7	breast:
15	chr7:8058670..8060171-chr7:8065220..8067372,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000233108	chromatin interactions
ENSG00000106415	chromatin interactions

Extended variants
information (count: 897 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:897 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17141876	chr7:8055664-8055665	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs187354476	chr7:8055678-8055679	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs139897190	chr7:8055720-8055721	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs557973832	chr7:8055754-8055755	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs145332632	chr7:8055786-8055787	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs552256092	chr7:8055809-8055810	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs144305208	chr7:8055816-8055817	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs529965692	chr7:8055817-8055818	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs190990051	chr7:8055826-8055827	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs542232700	chr7:8055837-8055838	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs182753618	chr7:8055866-8055867	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs527974286	chr7:8055907-8055908	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs552495177	chr7:8055915-8055916	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs570661882	chr7:8055926-8055927	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs148738678	chr7:8055928-8055929	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs35509690	chr7:8055948-8055949	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs568167598	chr7:8055955-8055956	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs535224405	chr7:8055956-8055957	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs553711114	chr7:8055971-8055972	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs185121111	chr7:8056024-8056025	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs539716611	chr7:8056041-8056042	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs558086736	chr7:8056042-8056043	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs576265802	chr7:8056053-8056054	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs543658109	chr7:8056054-8056055	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs6968802	chr7:8056076-8056077	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs145954895	chr7:8056092-8056093	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs561377357	chr7:8056109-8056110	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs541995645	chr7:8056117-8056118	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs112495359	chr7:8056132-8056133	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs572350111	chr7:8056133-8056134	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs146509176	chr7:8056139-8056140	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs189977131	chr7:8056164-8056165	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs182610388	chr7:8056170-8056171	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs187295908	chr7:8056188-8056189	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs6463753	chr7:8056193-8056194	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs576588647	chr7:8056195-8056196	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs77270442	chr7:8056213-8056214	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs538849988	chr7:8056217-8056218	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs140815136	chr7:8056269-8056270	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs150083632	chr7:8056291-8056292	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs145527046	chr7:8056296-8056297	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs192977003	chr7:8056386-8056387	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs184025184	chr7:8056408-8056409	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs550664832	chr7:8056454-8056455	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs188970442	chr7:8056470-8056471	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs78853967	chr7:8056494-8056495	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs548311349	chr7:8056545-8056546	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs148848187	chr7:8056549-8056550	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs535944385	chr7:8056594-8056595	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs114931777	chr7:8056637-8056638	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	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
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	22522925	CNVD
Renal cell carcinoma	18194544	CNVD
Prostate cancer	22341455	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:653 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:8036400-8077400	Weak transcription	Right Ventricle	heart
2	chr7:8036600-8057200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr7:8036600-8064400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:8036600-8064400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr7:8036600-8074600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:8038000-8066000	Weak transcription	Pancreas	Pancrea
7	chr7:8038400-8066000	Weak transcription	Spleen	Spleen
8	chr7:8041600-8064400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr7:8041600-8095000	Weak transcription	Gastric	stomach
10	chr7:8041800-8075400	Weak transcription	Brain Hippocampus Middle	brain
11	chr7:8042800-8064400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr7:8043000-8099200	Weak transcription	Colon Smooth Muscle	Colon
13	chr7:8043600-8068400	Weak transcription	NH-A	brain
14	chr7:8043800-8064400	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr7:8043800-8064600	Weak transcription	Small Intestine	intestine
16	chr7:8044000-8062600	Weak transcription	Fetal Intestine Small	intestine
17	chr7:8044200-8063800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr7:8044200-8066000	Weak transcription	Lung	lung
19	chr7:8044600-8074400	Weak transcription	Brain Angular Gyrus	brain
20	chr7:8044800-8064400	Weak transcription	Aorta	Aorta
21	chr7:8045200-8066000	Weak transcription	Fetal Brain Male	brain
22	chr7:8046800-8062800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr7:8046800-8064200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr7:8046800-8064400	Weak transcription	Ovary	ovary
25	chr7:8046800-8066000	Weak transcription	Left Ventricle	heart
26	chr7:8046800-8074400	Weak transcription	Brain Substantia Nigra	brain
27	chr7:8047000-8062200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr7:8047000-8064000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr7:8047000-8066000	Weak transcription	Rectal Smooth Muscle	rectum
30	chr7:8047200-8059200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:8047200-8062200	Weak transcription	Brain Anterior Caudate	brain
32	chr7:8047200-8062200	Weak transcription	Duodenum Mucosa	Duodenum
33	chr7:8047200-8063800	Weak transcription	Fetal Lung	lung
34	chr7:8047200-8064000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr7:8047200-8064000	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr7:8047200-8064000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr7:8047200-8064400	Weak transcription	Fetal Muscle Trunk	muscle
38	chr7:8047200-8065200	Weak transcription	Fetal Kidney	kidney
39	chr7:8047200-8065400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr7:8047200-8066000	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr7:8047200-8066200	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr7:8047400-8062400	Weak transcription	Brain Germinal Matrix	brain
43	chr7:8047400-8063400	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr7:8047400-8063400	Weak transcription	Stomach Smooth Muscle	stomach
45	chr7:8047400-8064000	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr7:8047400-8064400	Weak transcription	Fetal Brain Female	brain
47	chr7:8047400-8064400	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr7:8047400-8066000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr7:8047400-8066000	Weak transcription	Brain Cingulate Gyrus	brain
50	chr7:8047400-8066000	Weak transcription	Rectal Mucosa Donor 31	rectum

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