Variant report

Variant	nsv1019617
Chromosome Location	chr7:18082807-18107755
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:18083618..18086351-chr7:18088635..18091366,2	K562	blood:
2	chr7:18083711..18086360-chr7:18089871..18092747,2	MCF-7	breast:
3	chr7:18086835..18088605-chr7:18090406..18092394,2	K562	blood:
4	chr7:18103570..18104553-chr7:18385072..18385885,2	MCF-7	breast:
5	chr7:18076800..18079636-chr7:18082013..18084271,2	MCF-7	breast:
6	chr7:18086835..18088605-chr7:18090406..18092394,2	K562	blood:
7	chr7:18083618..18086351-chr7:18088635..18091366,2	K562	blood:
8	chr7:18083711..18086360-chr7:18089871..18092747,2	MCF-7	breast:
9	chr7:18103601..18104557-chr7:18159371..18160090,3	MCF-7	breast:

No data

Extended variants
information (count: 551 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:551 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11773111	chr7:18082807-18082808	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs553707875	chr7:18082820-18082821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572174139	chr7:18082843-18082844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150442771	chr7:18082869-18082870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115917090	chr7:18083009-18083010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs34345370	chr7:18083018-18083019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs4416730	chr7:18083032-18083033	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs201174731	chr7:18083124-18083125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs199644647	chr7:18083125-18083126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200492264	chr7:18083126-18083127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547157020	chr7:18083149-18083150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116439154	chr7:18083171-18083172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534377795	chr7:18083285-18083286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4461789	chr7:18083325-18083326	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
15	rs532715959	chr7:18083361-18083362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541674819	chr7:18083385-18083386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559729563	chr7:18083418-18083419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141599735	chr7:18083437-18083438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184462545	chr7:18083469-18083470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546792472	chr7:18083486-18083487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs76755239	chr7:18083492-18083493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539147148	chr7:18083531-18083532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552294115	chr7:18083558-18083559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570799863	chr7:18083567-18083568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538574863	chr7:18083610-18083611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs79978844	chr7:18083645-18083646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146208194	chr7:18083678-18083679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565781633	chr7:18083704-18083705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536028483	chr7:18083707-18083708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12535770	chr7:18083710-18083711	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs187295803	chr7:18083719-18083720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192693692	chr7:18083777-18083778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536983602	chr7:18083805-18083806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs137950736	chr7:18083818-18083819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs4326292	chr7:18083820-18083821	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs114245783	chr7:18083878-18083879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559992967	chr7:18083883-18083884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575127570	chr7:18083891-18083892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184680617	chr7:18083898-18083899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560714616	chr7:18083940-18083941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs62446954	chr7:18083973-18083974	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs190236154	chr7:18084036-18084037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543190305	chr7:18084119-18084120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552608668	chr7:18084153-18084154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552608018	chr7:18084204-18084205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536412707	chr7:18084230-18084231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564359825	chr7:18084297-18084298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558637335	chr7:18084309-18084310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs142343681	chr7:18084397-18084398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373313483	chr7:18084464-18084465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
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
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
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	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
Pleomorphic liposarcoma	18784837	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
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Bladder cancer	21909424	CNVD
Cancer	21183584	CNVD
Autism	20808228	CNVD
Sezary syndrome	18413736	CNVD
Autism	20531469	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18080200-18092800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:18081400-18085800	Weak transcription	Fetal Heart	heart
3	chr7:18085000-18086200	Enhancers	Fetal Kidney	kidney
4	chr7:18085800-18087600	Enhancers	Fetal Heart	heart
5	chr7:18086200-18086400	Weak transcription	Fetal Kidney	kidney
6	chr7:18086200-18086600	Enhancers	K562	blood
7	chr7:18086400-18087600	Enhancers	Fetal Kidney	kidney
8	chr7:18087000-18087600	Enhancers	Liver	Liver
9	chr7:18090000-18091000	Enhancers	Fetal Heart	heart
10	chr7:18091000-18095000	Weak transcription	Fetal Heart	heart
11	chr7:18092400-18093600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:18092800-18093200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr7:18095000-18095400	Enhancers	Fetal Heart	heart
14	chr7:18095400-18095800	Flanking Active TSS	Fetal Heart	heart
15	chr7:18095800-18096000	Enhancers	Fetal Heart	heart
16	chr7:18098400-18099200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr7:18098600-18099000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr7:18098600-18099000	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr7:18098600-18099000	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr7:18098600-18099200	Enhancers	H9 Cell Line	embryonic stem cell
21	chr7:18098600-18099200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr7:18102000-18102600	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr7:18107400-18107600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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