Variant report

Variant	nsv887651
Chromosome Location	chr7:13235083-13288777
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:1)
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	chr7:13234900..13236421-chr7:13245231..13247186,2	K562	blood:
2	chr7:13255952..13258351-chr7:13261908..13263917,2	K562	blood:
3	chr7:12728492..12730623-chr7:13283814..13286718,2	K562	blood:
4	chr7:12869802..12871805-chr7:13260631..13263120,2	K562	blood:
5	chr7:13234900..13236421-chr7:13245231..13247186,2	K562	blood:
6	chr7:13277363..13280042-chr7:13283075..13284729,2	K562	blood:
7	chr7:12713108..12716058-chr7:13259369..13262315,2	K562	blood:
8	chr7:13255952..13258351-chr7:13261908..13263917,2	K562	blood:
9	chr7:13209664..13212376-chr7:13237521..13239228,2	K562	blood:
10	chr7:13256179..13258568-chr7:13261397..13264714,3	K562	blood:
11	chr7:13234533..13236633-chr7:13288975..13291281,2	K562	blood:
12	chr7:13277363..13280042-chr7:13283075..13284729,2	K562	blood:
13	chr7:13232632..13234928-chr7:13240962..13243644,2	K562	blood:
14	chr7:13256179..13258568-chr7:13261397..13264714,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARL4A-1	chr7:13257170-13257293	XLOC_005988

No data

Extended variants
information (count: 1554 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:1554 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs194027	chr7:13235083-13235084	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs184933873	chr7:13235105-13235106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs116909729	chr7:13235108-13235109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149350544	chr7:13235168-13235169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572432760	chr7:13235172-13235173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374821178	chr7:13235180-13235181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs194026	chr7:13235224-13235225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564336008	chr7:13235232-13235233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368852212	chr7:13235269-13235270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577770339	chr7:13235281-13235282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs75385210	chr7:13235338-13235339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552676455	chr7:13235343-13235344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs118015582	chr7:13235391-13235392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546092994	chr7:13235400-13235401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75775193	chr7:13235414-13235415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528905772	chr7:13235445-13235446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs144709308	chr7:13235480-13235481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559436505	chr7:13235496-13235497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529528376	chr7:13235521-13235522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551650955	chr7:13235562-13235563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs35088294	chr7:13235565-13235566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs77789354	chr7:13235567-13235568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571475182	chr7:13235611-13235612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369141847	chr7:13235621-13235622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537207377	chr7:13235628-13235629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs207467672	chr7:13235630-13235631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77980909	chr7:13235681-13235682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567425804	chr7:13235722-13235723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527385109	chr7:13235761-13235762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190968876	chr7:13235780-13235781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs377658262	chr7:13235791-13235792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372459752	chr7:13235816-13235817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs6948284	chr7:13235893-13235894	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs115259562	chr7:13235936-13235937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183379946	chr7:13235968-13235969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557790235	chr7:13235975-13235976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577832185	chr7:13236037-13236038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187127053	chr7:13236063-13236064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557666463	chr7:13236080-13236081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570152140	chr7:13236084-13236085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192043225	chr7:13236087-13236088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574237918	chr7:13236089-13236090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs6948643	chr7:13236107-13236108	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs73267543	chr7:13236151-13236152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528048969	chr7:13236226-13236227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs200342236	chr7:13236231-13236232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs111994477	chr7:13236232-13236233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs6969208	chr7:13236249-13236250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs6948925	chr7:13236277-13236278	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs569280864	chr7:13236278-13236279	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
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
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Glioblastoma multiforme	17002787	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13233000-13236200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr7:13236200-13236600	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr7:13236200-13236800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr7:13236800-13237200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr7:13236800-13238400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr7:13236800-13239400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:13237000-13238400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:13237000-13239000	Enhancers	Hela-S3	cervix
9	chr7:13237000-13239200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:13237200-13237800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:13237200-13238200	Enhancers	NHEK	skin
12	chr7:13237200-13240600	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr7:13237400-13237800	Enhancers	NH-A	brain
14	chr7:13237400-13237800	Enhancers	Osteobl	bone
15	chr7:13237600-13238200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr7:13238200-13238600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr7:13238600-13239000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:13238800-13239600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr7:13240600-13241000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr7:13241000-13241600	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr7:13241600-13243000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr7:13243000-13244400	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr7:13250800-13251000	Enhancers	Pancreas	Pancrea
24	chr7:13251000-13258400	Weak transcription	Pancreas	Pancrea
25	chr7:13253800-13258600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr7:13256600-13257800	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr7:13257200-13257600	Enhancers	Rectal Smooth Muscle	rectum
28	chr7:13257400-13258000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr7:13257400-13258200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:13257400-13258400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr7:13257800-13258200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr7:13257800-13258600	Enhancers	Colon Smooth Muscle	Colon
33	chr7:13258200-13258800	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr7:13258400-13258600	Enhancers	Pancreas	Pancrea
35	chr7:13258600-13259200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr7:13268400-13272400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr7:13270200-13272000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr7:13270400-13271600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr7:13272000-13274600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:13272400-13273600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr7:13273600-13276200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr7:13274400-13275000	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr7:13274600-13276200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr7:13274600-13276400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr7:13275000-13275400	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr7:13275200-13276400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr7:13275400-13276400	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr7:13275600-13276000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr7:13275600-13276000	Enhancers	Adipose Nuclei	Adipose
50	chr7:13276200-13279800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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