Variant report

Variant	nsv966765
Chromosome Location	chr7:26294033-26304840
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:26236520..26238039-chr7:26292398..26294244,2	K562	blood:
2	chr7:26225967..26229689-chr7:26296962..26299546,3	K562	blood:
3	chr7:26239412..26241466-chr7:26297759..26299952,2	K562	blood:
4	chr7:26241682..26244153-chr7:26303417..26305128,2	MCF-7	breast:
5	chr7:26239684..26241220-chr7:26302884..26304770,2	K562	blood:
6	chr7:26273327..26275499-chr7:26293540..26295468,2	K562	blood:
7	chr12:72923124..72923955-chr7:26293544..26294311,2	MCF-7	breast:
8	chr7:26239908..26242952-chr7:26299101..26301933,3	MCF-7	breast:
9	chr7:26285358..26287878-chr7:26292647..26295501,2	K562	blood:
10	chr7:26302873..26304552-chr7:26310910..26313411,2	K562	blood:
11	chr7:26301633..26304358-chr7:26306082..26308143,2	K562	blood:
12	chr1:214454710..214457549-chr7:26301869..26304423,2	MCF-7	breast:
13	chr7:26302115..26304358-chr7:26305370..26308794,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000122565	chromatin interactions
ENSG00000122566	chromatin interactions

Extended variants
information (count: 392 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:392 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548844991	chr7:26294071-26294072	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs74682741	chr7:26294090-26294091	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs141148721	chr7:26294128-26294129	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs551395995	chr7:26294150-26294151	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs537516495	chr7:26294158-26294159	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs551171474	chr7:26294194-26294195	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs114032065	chr7:26294210-26294211	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs186112672	chr7:26294257-26294258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553703093	chr7:26294258-26294259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555915654	chr7:26294296-26294297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573316556	chr7:26294311-26294312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188919861	chr7:26294355-26294356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576163933	chr7:26294364-26294365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113339342	chr7:26294376-26294377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555425503	chr7:26294388-26294389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575713423	chr7:26294390-26294391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376572643	chr7:26294394-26294395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369768021	chr7:26294447-26294448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544343104	chr7:26294469-26294470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557964778	chr7:26294526-26294527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577393873	chr7:26294540-26294541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541693267	chr7:26294593-26294594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562007540	chr7:26294595-26294596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375942879	chr7:26294596-26294597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150755861	chr7:26294602-26294603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs6979931	chr7:26294621-26294622	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs113820009	chr7:26294691-26294692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144016420	chr7:26294718-26294719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182187486	chr7:26294787-26294788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531469838	chr7:26294796-26294797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187266612	chr7:26294810-26294811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551168938	chr7:26294954-26294955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571106752	chr7:26294989-26294990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533558570	chr7:26295037-26295038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs117120312	chr7:26295095-26295096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549879991	chr7:26295173-26295174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191894439	chr7:26295176-26295177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182992077	chr7:26295179-26295180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368771752	chr7:26295202-26295203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs146128177	chr7:26295283-26295284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185938940	chr7:26295286-26295287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs116391261	chr7:26295326-26295327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140122082	chr7:26295353-26295354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531922607	chr7:26295379-26295380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs80003714	chr7:26295396-26295397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553523742	chr7:26295459-26295460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190117504	chr7:26295463-26295464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528121091	chr7:26295520-26295521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548543813	chr7:26295549-26295550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562533162	chr7:26295590-26295591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
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
Melanoma	18172304	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
Endometrioid adenocarcinoma	16974079	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
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Lung adenocarcinoma	17086460	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17086460	CNVD
Breast cancer	18852474	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26291800-26295800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr7:26292200-26298800	Weak transcription	K562	blood
3	chr7:26293800-26294200	Enhancers	Fetal Heart	heart
4	chr7:26295800-26296200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr7:26298800-26299400	Enhancers	K562	blood
6	chr7:26302600-26303400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr7:26304800-26305000	Flanking Active TSS	Hela-S3	cervix

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