Variant report

Variant	nsv533674
Chromosome Location	chr7:13239521-13327079
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:36)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:13323017..13323546-chr7:13450292..13451095,2	MCF-7	breast:
2	chr7:13321708..13322614-chr7:13781609..13782954,4	MCF-7	breast:
3	chr7:12723258..12723885-chr7:13302334..13303034,2	K562	blood:
4	chr7:13321688..13322613-chr7:14730587..14732153,8	MCF-7	breast:
5	chr7:12722907..12724053-chr7:13302414..13303228,4	MCF-7	breast:
6	chr7:12728492..12730623-chr7:13283814..13286718,2	K562	blood:
7	chr7:13306388..13306972-chr7:14730968..14731509,2	K562	blood:
8	chr7:13234900..13236421-chr7:13245231..13247186,2	K562	blood:
9	chr7:13319346..13320250-chr7:13765396..13766149,2	MCF-7	breast:
10	chr7:12726758..12728673-chr7:13301799..13304378,2	MCF-7	breast:
11	chr7:12722970..12725427-chr7:13301212..13303550,2	MCF-7	breast:
12	chr7:12713108..12716058-chr7:13259369..13262315,2	K562	blood:
13	chr7:12726495..12727305-chr7:13302682..13303235,2	MCF-7	breast:
14	chr7:13317591..13319993-chr7:15056107..15057980,2	K562	blood:
15	chr7:12730482..12733310-chr7:13301310..13304116,3	K562	blood:
16	chr7:12678214..12678881-chr7:13302310..13303158,3	MCF-7	breast:
17	chr7:12869802..12871805-chr7:13260631..13263120,2	K562	blood:
18	chr7:13319194..13320144-chr7:14730989..14732251,8	K562	blood:
19	chr7:13234533..13236633-chr7:13288975..13291281,2	K562	blood:
20	chr7:13232632..13234928-chr7:13240962..13243644,2	K562	blood:
21	chr7:12680874..12682903-chr7:13306421..13309219,2	K562	blood:
22	chr7:13277363..13280042-chr7:13283075..13284729,2	K562	blood:
23	chr7:13322023..13322580-chr7:14731384..14731908,2	MCF-7	breast:
24	chr7:12724872..12725730-chr7:13302371..13302915,2	MCF-7	breast:
25	chr7:13255952..13258351-chr7:13261908..13263917,2	K562	blood:
26	chr7:13256179..13258568-chr7:13261397..13264714,3	K562	blood:
27	chr7:12729761..12734600-chr7:13300705..13305061,6	K562	blood:
28	chr7:13319140..13319925-chr7:14729283..14730100,2	K562	blood:
29	chr7:13277363..13280042-chr7:13283075..13284729,2	K562	blood:
30	chr7:13321927..13322595-chr7:13765268..13765848,2	MCF-7	breast:
31	chr7:12564391..12565035-chr7:13302260..13303224,2	K562	blood:
32	chr7:13256179..13258568-chr7:13261397..13264714,3	K562	blood:
33	chr7:12726407..12728675-chr7:13293795..13296695,2	K562	blood:
34	chr7:12678305..12679413-chr7:13302026..13303206,8	K562	blood:
35	chr7:13255952..13258351-chr7:13261908..13263917,2	K562	blood:
36	chr7:13321441..13322985-chr7:13782052..13783356,4	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARL4A-1	chr7:13257170-13257293	XLOC_005988
2	lnc-ARL4A-7	chr7:13316359-13316473	NONHSAT119248

No data

Variant related genes	Relation type
ENSG00000122644	chromatin interactions
ENSG00000271253	chromatin interactions

Extended variants
information (count: 2116 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:2116 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534228257	chr7:13239521-13239522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs199737537	chr7:13239549-13239550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554205769	chr7:13239596-13239597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs35620173	chr7:13239639-13239640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs577265395	chr7:13239684-13239685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs75769860	chr7:13239710-13239711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190554411	chr7:13239714-13239715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs194021	chr7:13239760-13239761	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs546210743	chr7:13239784-13239785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs182802209	chr7:13239842-13239843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs194020	chr7:13239854-13239855	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs527974713	chr7:13239874-13239875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs78592084	chr7:13239885-13239886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs142990821	chr7:13239892-13239893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532755985	chr7:13239898-13239899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147767800	chr7:13239899-13239900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs369578381	chr7:13239901-13239902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs569628048	chr7:13239935-13239936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs139473674	chr7:13239985-13239986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187128044	chr7:13240007-13240008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566027849	chr7:13240022-13240023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534919523	chr7:13240029-13240030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs191611760	chr7:13240055-13240056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs35888762	chr7:13240063-13240064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs377052706	chr7:13240075-13240076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs76338585	chr7:13240085-13240086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577184887	chr7:13240092-13240093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs528578983	chr7:13240118-13240119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs542279564	chr7:13240139-13240140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs556648275	chr7:13240170-13240171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs576447796	chr7:13240176-13240177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs542453521	chr7:13240185-13240186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs561947456	chr7:13240213-13240214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs572263583	chr7:13240214-13240215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs145105153	chr7:13240274-13240275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs147590309	chr7:13240289-13240290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs182368494	chr7:13240298-13240299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs6970797	chr7:13240303-13240304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs369793907	chr7:13240314-13240315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528979260	chr7:13240317-13240318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs194019	chr7:13240318-13240319	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs115846124	chr7:13240322-13240323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs6974788	chr7:13240339-13240340	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs551724632	chr7:13240432-13240433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs571431903	chr7:13240478-13240479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs539859621	chr7:13240479-13240480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs556276765	chr7:13240483-13240484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs569985550	chr7:13240484-13240485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs535561164	chr7:13240507-13240508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs555405551	chr7:13240538-13240539	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:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13237200-13240600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr7:13238800-13239600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr7:13240600-13241000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr7:13241000-13241600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr7:13241600-13243000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr7:13243000-13244400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr7:13250800-13251000	Enhancers	Pancreas	Pancrea
8	chr7:13251000-13258400	Weak transcription	Pancreas	Pancrea
9	chr7:13253800-13258600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr7:13256600-13257800	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr7:13257200-13257600	Enhancers	Rectal Smooth Muscle	rectum
12	chr7:13257400-13258000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr7:13257400-13258200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:13257400-13258400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr7:13257800-13258200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr7:13257800-13258600	Enhancers	Colon Smooth Muscle	Colon
17	chr7:13258200-13258800	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr7:13258400-13258600	Enhancers	Pancreas	Pancrea
19	chr7:13258600-13259200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr7:13268400-13272400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr7:13270200-13272000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:13270400-13271600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr7:13272000-13274600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:13272400-13273600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:13273600-13276200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:13274400-13275000	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr7:13274600-13276200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:13274600-13276400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr7:13275000-13275400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr7:13275200-13276400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr7:13275400-13276400	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr7:13275600-13276000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr7:13275600-13276000	Enhancers	Adipose Nuclei	Adipose
34	chr7:13276200-13279800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:13276200-13279800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr7:13279000-13279800	Enhancers	A549	lung
37	chr7:13279800-13280200	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr7:13279800-13280200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr7:13279800-13280200	Enhancers	NH-A	brain
40	chr7:13279800-13280400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:13279800-13280400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr7:13279800-13280400	Flanking Active TSS	A549	lung
43	chr7:13279800-13280600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr7:13280000-13280400	Enhancers	H9 Cell Line	embryonic stem cell
45	chr7:13280000-13280400	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr7:13280000-13280400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr7:13280000-13280400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr7:13280400-13280600	Enhancers	A549	lung
49	chr7:13297200-13297400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr7:13299000-13301200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links