Variant report

Variant	nsv606249
Chromosome Location	chr7:13211263-13247686
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:19)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:13134342..13136300-chr7:13222418..13225299,2	MCF-7	breast:
2	chr7:12725963..12728528-chr7:13221189..13225092,3	K562	blood:
3	chr7:13232632..13234928-chr7:13240962..13243644,2	K562	blood:
4	chr7:12722672..12723612-chr7:13218588..13219274,2	MCF-7	breast:
5	chr7:13209664..13212376-chr7:13237521..13239228,2	K562	blood:
6	chr7:12725278..12725831-chr7:13218360..13219347,3	MCF-7	breast:
7	chr7:13211183..13213197-chr7:13214894..13216654,2	K562	blood:
8	chr7:13209664..13212376-chr7:13237521..13239228,2	K562	blood:
9	chr7:13234900..13236421-chr7:13245231..13247186,2	K562	blood:
10	chr7:13234900..13236421-chr7:13245231..13247186,2	K562	blood:
11	chr7:13211183..13213197-chr7:13214894..13216654,2	K562	blood:
12	chr7:12678156..12678755-chr7:13218288..13219237,2	MCF-7	breast:
13	chr7:13232632..13234928-chr7:13240962..13243644,2	K562	blood:
14	chr7:13212799..13215585-chr7:13218700..13220945,2	K562	blood:
15	chr7:13212799..13215585-chr7:13218700..13220945,2	K562	blood:
16	chr7:12727028..12729101-chr7:13222330..13224428,2	K562	blood:
17	chr7:12726743..12727464-chr7:13218413..13219282,2	MCF-7	breast:
18	chr20:52401294..52403111-chr7:13210219..13212096,2	MCF-7	breast:
19	chr7:13234533..13236633-chr7:13288975..13291281,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARL4A-7	chr7:13223695-13223818	NONHSAT119248

No data

Variant related genes	Relation type
ENSG00000122644	chromatin interactions

Extended variants
information (count: 1393 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:1393 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568433500	chr7:13214000-13214001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs534080417	chr7:13214002-13214003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554243825	chr7:13214014-13214015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539342152	chr7:13214022-13214023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs577371583	chr7:13214098-13214099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs150352034	chr7:13214130-13214131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs556769249	chr7:13214196-13214197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576838689	chr7:13214216-13214217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542494655	chr7:13214231-13214232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561568289	chr7:13214269-13214270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs61575965	chr7:13214442-13214443	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs2058156	chr7:13214447-13214448	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs555267342	chr7:13214457-13214458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563848074	chr7:13214480-13214481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs10950443	chr7:13214494-13214495	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs116423687	chr7:13214512-13214513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs12536170	chr7:13214540-13214541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs56155537	chr7:13214577-13214578	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs549258014	chr7:13214598-13214599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs537237900	chr7:13214616-13214617	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs565789919	chr7:13214631-13214632	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs145028522	chr7:13214668-13214669	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs6968050	chr7:13214671-13214672	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs570981803	chr7:13214732-13214733	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs10226736	chr7:13214738-13214739	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs539921033	chr7:13214769-13214770	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs556832485	chr7:13214787-13214788	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs576698855	chr7:13214807-13214808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190338663	chr7:13214827-13214828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370175984	chr7:13214832-13214833	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556025742	chr7:13214862-13214863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149106347	chr7:13214875-13214876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541037350	chr7:13214885-13214886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182787035	chr7:13214889-13214890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144918972	chr7:13214922-13214923	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371431329	chr7:13214926-13214927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138794789	chr7:13214939-13214940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141979119	chr7:13214947-13214948	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs145668018	chr7:13214998-13214999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548865425	chr7:13215072-13215073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559614660	chr7:13215074-13215075	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs148116853	chr7:13215091-13215092	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187097025	chr7:13215142-13215143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557191332	chr7:13215153-13215154	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371366131	chr7:13215154-13215155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570847018	chr7:13215160-13215161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567528100	chr7:13215192-13215193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192792986	chr7:13215201-13215202	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550293278	chr7:13215227-13215228	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540932452	chr7:13215237-13215238	Enhancers Active TSS 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
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

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13214000-13214800	Enhancers	Fetal Intestine Small	intestine
2	chr7:13214200-13214800	Enhancers	Fetal Intestine Large	intestine
3	chr7:13214200-13215000	Enhancers	HepG2	liver
4	chr7:13214200-13215400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:13214400-13214600	Enhancers	Duodenum Mucosa	Duodenum
6	chr7:13214600-13214800	Flanking Active TSS	Duodenum Mucosa	Duodenum
7	chr7:13214600-13215600	Enhancers	Primary hematopoietic stem cells	blood
8	chr7:13214800-13215200	Enhancers	Duodenum Mucosa	Duodenum
9	chr7:13214800-13215200	Weak transcription	Fetal Intestine Large	intestine
10	chr7:13214800-13215400	Weak transcription	Fetal Intestine Small	intestine
11	chr7:13215000-13218800	Weak transcription	HepG2	liver
12	chr7:13215200-13215400	Active TSS	Duodenum Mucosa	Duodenum
13	chr7:13215200-13215800	Enhancers	Fetal Intestine Large	intestine
14	chr7:13215200-13216200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr7:13215400-13215600	Enhancers	Fetal Intestine Small	intestine
16	chr7:13215400-13215800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:13215400-13215800	Enhancers	K562	blood
18	chr7:13215600-13216200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr7:13215800-13218800	Weak transcription	K562	blood
20	chr7:13216200-13216400	Enhancers	Primary hematopoietic stem cells	blood
21	chr7:13218600-13221600	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr7:13218800-13219200	Enhancers	K562	blood
23	chr7:13218800-13219800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr7:13218800-13220000	Enhancers	HepG2	liver
25	chr7:13219200-13220200	Enhancers	Fetal Muscle Leg	muscle
26	chr7:13219400-13220000	Enhancers	Fetal Stomach	stomach
27	chr7:13219600-13220000	Enhancers	Fetal Kidney	kidney
28	chr7:13219600-13220200	Enhancers	Colon Smooth Muscle	Colon
29	chr7:13219600-13220800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr7:13219600-13221000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:13219800-13220000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr7:13219800-13220200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr7:13219800-13220200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:13220000-13220200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr7:13220000-13221000	Weak transcription	Fetal Stomach	stomach
36	chr7:13220000-13221200	Weak transcription	Fetal Kidney	kidney
37	chr7:13220000-13221400	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr7:13220000-13223600	Weak transcription	HepG2	liver
39	chr7:13220200-13220400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr7:13220200-13220600	Weak transcription	Colon Smooth Muscle	Colon
41	chr7:13220200-13220600	Weak transcription	Fetal Muscle Leg	muscle
42	chr7:13220400-13220800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr7:13220600-13220800	Enhancers	A549	lung
44	chr7:13220600-13221000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr7:13220600-13221000	Enhancers	Colon Smooth Muscle	Colon
46	chr7:13220600-13221200	Enhancers	Fetal Muscle Leg	muscle
47	chr7:13220800-13221200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr7:13220800-13221200	Enhancers	Fetal Brain Female	brain
49	chr7:13220800-13221200	Flanking Active TSS	A549	lung
50	chr7:13220800-13221400	Enhancers	Brain Substantia Nigra	brain

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