Variant report

Variant	nsv974112
Chromosome Location	chr13:92459668-92465750
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:92425245..92427379-chr13:92459575..92462429,2	K562	blood:
2	chr13:92464505..92466650-chr13:92470454..92472788,2	K562	blood:

Extended variants
information (count: 189 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:189 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190605531	chr13:92459713-92459714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs561388770	chr13:92459739-92459740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528868544	chr13:92459791-92459792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs80244721	chr13:92459792-92459793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs78220328	chr13:92459831-92459832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528166068	chr13:92459871-92459872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551323123	chr13:92459889-92459890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538580966	chr13:92459909-92459910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185999393	chr13:92459938-92459939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536820272	chr13:92459978-92459979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557235533	chr13:92460008-92460009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373138216	chr13:92460097-92460098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs1854974	chr13:92460111-92460112	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs536649366	chr13:92460144-92460145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553397868	chr13:92460296-92460297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371842258	chr13:92460366-92460367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs61967085	chr13:92460383-92460384	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs188289431	chr13:92460390-92460391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115941279	chr13:92460396-92460397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs143631844	chr13:92460409-92460410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544439237	chr13:92460416-92460417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374579283	chr13:92460480-92460481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs180904381	chr13:92460539-92460540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561250087	chr13:92460551-92460552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561671304	chr13:92460566-92460567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185353913	chr13:92460594-92460595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148116677	chr13:92460626-92460627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs141875350	chr13:92460691-92460692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs9515976	chr13:92460694-92460695	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs113815010	chr13:92460709-92460710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs190113818	chr13:92460729-92460730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559905413	chr13:92460761-92460762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs150673511	chr13:92460774-92460775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs371333582	chr13:92460896-92460897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs550453371	chr13:92460917-92460918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs139223993	chr13:92460976-92460977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs540292555	chr13:92460978-92460979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs374163377	chr13:92460997-92460998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs183491993	chr13:92461001-92461002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs536539328	chr13:92461054-92461055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs547049164	chr13:92461118-92461119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs566848784	chr13:92461133-92461134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs186933631	chr13:92461137-92461138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs1831566	chr13:92461147-92461148	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs114527753	chr13:92461150-92461151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs371817742	chr13:92461250-92461251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs538479867	chr13:92461277-92461278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs554734140	chr13:92461335-92461336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs369718122	chr13:92461370-92461371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs540505569	chr13:92461374-92461375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Metanephric adenoma	20802469	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
coloboma	21285886	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	19651601	CNVD
Effusion lymphoma	18079361	CNVD
Developmental delay	21147756	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:92457400-92460600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr13:92457400-92465600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr13:92458000-92463800	Weak transcription	Fetal Heart	heart
4	chr13:92458000-92464000	Weak transcription	Fetal Lung	lung
5	chr13:92458400-92459800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr13:92459000-92463600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr13:92459200-92465000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr13:92459600-92463200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr13:92459800-92461600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr13:92460600-92461000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr13:92460600-92461600	Enhancers	Rectal Smooth Muscle	rectum
12	chr13:92461000-92463400	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr13:92461200-92461800	Enhancers	Colon Smooth Muscle	Colon
14	chr13:92461600-92461800	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr13:92461600-92462000	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr13:92461600-92464800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr13:92461800-92462400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr13:92461800-92463800	Weak transcription	Colon Smooth Muscle	Colon
19	chr13:92462000-92462400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr13:92462400-92463800	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr13:92462400-92464400	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr13:92463200-92464000	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr13:92463200-92464200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr13:92463400-92464400	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr13:92463600-92463800	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr13:92463600-92464200	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr13:92463800-92465400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr13:92463800-92465600	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr13:92463800-92465600	Enhancers	Fetal Heart	heart
30	chr13:92463800-92466000	Enhancers	Colon Smooth Muscle	Colon
31	chr13:92464000-92464200	Enhancers	Fetal Lung	lung
32	chr13:92464000-92464600	Enhancers	H9 Cell Line	embryonic stem cell
33	chr13:92464200-92464600	Weak transcription	Fetal Lung	lung
34	chr13:92464200-92465000	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr13:92464200-92465400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr13:92464400-92465600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr13:92464600-92465200	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr13:92464600-92465800	Enhancers	Fetal Lung	lung
39	chr13:92464600-92465800	Enhancers	Fetal Stomach	stomach
40	chr13:92464800-92466000	Enhancers	Rectal Smooth Muscle	rectum
41	chr13:92465000-92465200	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr13:92465000-92465600	Enhancers	Adipose Nuclei	Adipose
43	chr13:92465000-92466000	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr13:92465000-92466000	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr13:92465200-92465400	Enhancers	H9 Cell Line	embryonic stem cell
46	chr13:92465200-92465400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr13:92465200-92465800	Enhancers	Brain Anterior Caudate	brain
48	chr13:92465400-92465800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr13:92465400-92466000	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr13:92465600-92465800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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