Variant report

Variant	nsv437543
Chromosome Location	chr7:27437695-27440187
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:27433773..27435724-chr7:27438243..27439891,2	MCF-7	breast:
2	7:27238414-27242313..7:27439194-27449722	K562	blood:

Variant related genes	Relation type
ENSG00000243766	chromatin interactions
ENSG00000106031	chromatin interactions

Extended variants
information (count: 94 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10224966	chr7:27437695-27437696	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs28357238	chr7:27437720-27437721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs561997922	chr7:27437816-27437817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs35466119	chr7:27437857-27437858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs111643571	chr7:27437858-27437859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191617560	chr7:27437895-27437896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs182718331	chr7:27437897-27437898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs556619016	chr7:27437969-27437970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575033697	chr7:27437978-27437979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs139869155	chr7:27437993-27437994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs116226463	chr7:27438007-27438008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547233111	chr7:27438008-27438009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563916242	chr7:27438059-27438060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs10268902	chr7:27438124-27438125	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs145374673	chr7:27438149-27438150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs151218730	chr7:27438202-27438203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs577146547	chr7:27438257-27438258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs544665039	chr7:27438276-27438277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs75138973	chr7:27438294-27438295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs115887260	chr7:27438310-27438311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs548755462	chr7:27438319-27438320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs187838552	chr7:27438330-27438331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs73683783	chr7:27438348-27438349	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs115320837	chr7:27438354-27438355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs17439207	chr7:27438388-27438389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs370735919	chr7:27438406-27438407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571089491	chr7:27438407-27438408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs76904827	chr7:27438420-27438421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs79127346	chr7:27438580-27438581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs550168091	chr7:27438618-27438619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs192364066	chr7:27438660-27438661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs182316883	chr7:27438691-27438692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs554308511	chr7:27438705-27438706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs17478997	chr7:27438706-27438707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs533774615	chr7:27438711-27438712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs187530833	chr7:27438817-27438818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs140403326	chr7:27438831-27438832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs150343077	chr7:27438840-27438841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs562874259	chr7:27438886-27438887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs117584613	chr7:27438917-27438918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs34248767	chr7:27438945-27438946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs28398546	chr7:27438957-27438958	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs535202883	chr7:27439081-27439082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs560417836	chr7:27439091-27439092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs527866580	chr7:27439097-27439098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs552543968	chr7:27439118-27439119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs28357239	chr7:27439165-27439166	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs531884312	chr7:27439187-27439188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs574786855	chr7:27439213-27439214	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs193006853	chr7:27439233-27439234	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27437600-27438000	Weak transcription	Fetal Lung	lung
2	chr7:27437600-27438600	Enhancers	Ovary	ovary
3	chr7:27438000-27440000	Enhancers	Fetal Lung	lung
4	chr7:27438400-27438600	Enhancers	Adipose Nuclei	Adipose
5	chr7:27438600-27439200	Weak transcription	Ovary	ovary
6	chr7:27438600-27439400	Weak transcription	Adipose Nuclei	Adipose
7	chr7:27438600-27440000	Enhancers	Fetal Muscle Leg	muscle
8	chr7:27439000-27440200	Enhancers	Spleen	Spleen
9	chr7:27439200-27439400	Enhancers	Ovary	ovary
10	chr7:27439200-27440200	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr7:27439200-27440200	Enhancers	Placenta	Placenta
12	chr7:27439400-27440000	Enhancers	Adipose Nuclei	Adipose
13	chr7:27439400-27440200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:27439400-27440400	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr7:27439400-27440400	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr7:27439600-27440000	Enhancers	Primary B cells from peripheral blood	blood
17	chr7:27439600-27440000	Enhancers	Primary hematopoietic stem cells	blood
18	chr7:27439600-27440200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr7:27439800-27440000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
20	chr7:27439800-27440000	Enhancers	Fetal Kidney	kidney
21	chr7:27439800-27440200	Enhancers	HUVEC	blood vessel
22	chr7:27440000-27442800	Weak transcription	Fetal Kidney	kidney

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