Variant report

Variant	nsv520748
Chromosome Location	chr7:40332518-40425140
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:14)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:40334583..40336119-chr7:40353617..40356349,2	K562	blood:
2	chr7:40368904..40369830-chr7:40644119..40645087,4	MCF-7	breast:
3	chr7:39988445..39991258-chr7:40413776..40416750,2	K562	blood:
4	chr20:57473196..57474009-chr7:40413360..40414065,2	MCF-7	breast:
5	chr7:40345049..40347172-chr7:40349979..40352115,2	K562	blood:
6	chr7:40344397..40346549-chr7:40349560..40351479,2	K562	blood:
7	chr7:40345049..40347172-chr7:40349979..40352115,2	K562	blood:
8	chr7:40344397..40346549-chr7:40349560..40351479,2	K562	blood:
9	chr7:40362786..40364533-chr7:40364996..40369227,3	K562	blood:
10	chr1:6483244..6484243-chr7:40333894..40334600,2	MCF-7	breast:
11	chr7:40362786..40364533-chr7:40364996..40369227,3	K562	blood:
12	chr7:40348620..40350328-chr7:40353767..40356702,2	K562	blood:
13	chr7:40348620..40350328-chr7:40353767..40356702,2	K562	blood:
14	chr7:40334583..40336119-chr7:40353617..40356349,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C7orf11-8	chr7:40333941-40333997	NONHSAT120249
2	lnc-C7orf11-8	chr7:40336722-40336813	NONHSAT120249

No data

Variant related genes	Relation type
ENSG00000259826	chromatin interactions
ENSG00000065883	chromatin interactions

Extended variants
information (count: 2756 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:2756 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7791590	chr7:40332518-40332519	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs145700308	chr7:40332530-40332531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs62456135	chr7:40332539-40332540	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs534967211	chr7:40332559-40332560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs558417922	chr7:40332591-40332592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183355478	chr7:40332605-40332606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543979902	chr7:40332611-40332612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs79112831	chr7:40332623-40332624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574152375	chr7:40332691-40332692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111947963	chr7:40332695-40332696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543043976	chr7:40332704-40332705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540038646	chr7:40332715-40332716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113371072	chr7:40332738-40332739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551437178	chr7:40332743-40332744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565168281	chr7:40332836-40332837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530654197	chr7:40332837-40332838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550329361	chr7:40332878-40332879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567045030	chr7:40332956-40332957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142959756	chr7:40332979-40332980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112969788	chr7:40333058-40333059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558339567	chr7:40333060-40333061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11766698	chr7:40333081-40333082	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs566384888	chr7:40333130-40333131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190632458	chr7:40333239-40333240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534221842	chr7:40333259-40333260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs578170519	chr7:40333280-40333281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537267933	chr7:40333308-40333309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557541044	chr7:40333368-40333369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574189185	chr7:40333462-40333463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376258837	chr7:40333544-40333545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555759329	chr7:40333557-40333558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370368684	chr7:40333577-40333578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11763699	chr7:40333585-40333586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs367576946	chr7:40333617-40333618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs35074116	chr7:40333679-40333680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573188492	chr7:40333693-40333694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182492361	chr7:40333700-40333701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565051389	chr7:40333704-40333705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573938055	chr7:40333730-40333731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550366277	chr7:40333735-40333736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560709999	chr7:40333736-40333737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188078381	chr7:40333747-40333748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556260912	chr7:40333764-40333765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192729119	chr7:40333787-40333788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566545843	chr7:40333843-40333844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532026178	chr7:40333873-40333874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368485129	chr7:40333878-40333879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs17171670	chr7:40333942-40333943	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs537697236	chr7:40333984-40333985	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs545605117	chr7:40333998-40333999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	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
Autism	22495311	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	17237825	CNVD
Breast cancer	17899364	CNVD
Breast cancer	20409316	CNVD
Acute monocytic leukemia	16498392	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Gastric cancer	24379144	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:349 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40312000-40337000	Weak transcription	HSMM	muscle
2	chr7:40317400-40344600	Weak transcription	Aorta	Aorta
3	chr7:40331400-40332600	Enhancers	Dnd41	blood
4	chr7:40332400-40337600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr7:40332600-40337400	Weak transcription	Dnd41	blood
6	chr7:40335400-40339200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr7:40335600-40335800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr7:40335600-40337800	Enhancers	Muscle Satellite Cultured Cells	--
9	chr7:40335800-40341400	Enhancers	HUVEC	blood vessel
10	chr7:40336000-40339200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:40336000-40340200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr7:40336200-40340600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr7:40336400-40336600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr7:40336600-40339000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr7:40336800-40338600	Enhancers	Osteobl	bone
16	chr7:40336800-40339200	Enhancers	HSMMtube	muscle
17	chr7:40336800-40342000	Enhancers	NH-A	brain
18	chr7:40336800-40342600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr7:40337000-40337800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:40337000-40339200	Enhancers	NHEK	skin
21	chr7:40337000-40341400	Enhancers	HMEC	breast
22	chr7:40337000-40341800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr7:40337000-40342600	Enhancers	HSMM	muscle
24	chr7:40337200-40337800	Enhancers	NHLF	lung
25	chr7:40337200-40338000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr7:40337200-40339400	Enhancers	NHDF-Ad	bronchial
27	chr7:40337400-40341400	Enhancers	Dnd41	blood
28	chr7:40337600-40338800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr7:40337600-40339000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr7:40337600-40339200	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr7:40337600-40339200	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr7:40337600-40339200	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr7:40337600-40339400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr7:40337800-40338200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr7:40337800-40338600	Weak transcription	NHLF	lung
36	chr7:40337800-40338800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr7:40337800-40341000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr7:40338000-40339200	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr7:40338200-40339000	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr7:40338200-40339000	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr7:40338400-40339200	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr7:40338600-40338800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr7:40338600-40338800	Enhancers	NHLF	lung
44	chr7:40338600-40338800	Flanking Active TSS	Osteobl	bone
45	chr7:40338600-40339000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr7:40338600-40339200	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr7:40338800-40339000	Enhancers	Muscle Satellite Cultured Cells	--
48	chr7:40338800-40339000	Weak transcription	NHLF	lung
49	chr7:40338800-40339000	Enhancers	Osteobl	bone
50	chr7:40338800-40339200	Enhancers	H1 Cell Line	embryonic stem cell

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