Variant report

Variant	esv3421470
Chromosome Location	chr13:91959976-91962524
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:91960584..91967004-chr13:91967143..91971210,7	K562	blood:
2	chr13:91956747..91960656-chr13:91973875..91977276,3	K562	blood:
3	chr13:91958716..91961650-chr13:91963120..91965633,4	K562	blood:
4	chr13:91959172..91961374-chr13:91999584..92001899,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000215417	chromatin interactions

Extended variants
information (count: 110 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541583822	chr13:91959992-91959993	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs564658557	chr13:91960001-91960002	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs185440409	chr13:91960067-91960068	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs146573956	chr13:91960068-91960069	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs57272089	chr13:91960084-91960085	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs7994164	chr13:91960098-91960099	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs189299245	chr13:91960126-91960127	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs531301171	chr13:91960170-91960171	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs547855355	chr13:91960205-91960206	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs568094532	chr13:91960215-91960216	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs181883432	chr13:91960221-91960222	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs553460660	chr13:91960262-91960263	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs7995233	chr13:91960286-91960287	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs183480289	chr13:91960303-91960304	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs556392480	chr13:91960403-91960404	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs533293856	chr13:91960414-91960415	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs542133507	chr13:91960457-91960458	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs555470491	chr13:91960463-91960464	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs73601702	chr13:91960468-91960469	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs141275874	chr13:91960478-91960479	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs118189159	chr13:91960521-91960522	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs77253418	chr13:91960566-91960567	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs143799061	chr13:91960589-91960590	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs146838002	chr13:91960608-91960609	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs529558444	chr13:91960624-91960625	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs549691405	chr13:91960654-91960655	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs188212207	chr13:91960698-91960699	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs527296556	chr13:91960738-91960739	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs547062901	chr13:91960744-91960745	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs570230978	chr13:91960760-91960761	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs539556343	chr13:91960802-91960803	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs12873359	chr13:91960860-91960861	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs549686116	chr13:91960863-91960864	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs12867884	chr13:91960874-91960875	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs375051304	chr13:91960881-91960882	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs373511774	chr13:91960883-91960884	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs538535768	chr13:91960886-91960887	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs537189324	chr13:91960888-91960889	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs67544029	chr13:91960900-91960901	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs370655688	chr13:91960909-91960910	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs77156979	chr13:91960921-91960922	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs200078137	chr13:91960928-91960929	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs201045080	chr13:91960930-91960931	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs373705366	chr13:91960934-91960935	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs372718561	chr13:91960943-91960944	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs555642294	chr13:91960949-91960950	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs186264946	chr13:91960952-91960953	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs377314720	chr13:91960958-91960959	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs376887960	chr13:91960964-91960965	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs12873497	chr13:91960965-91960966	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Non-syndromic sensorineural hearing loss	18496225	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:91957000-91960000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr13:91960000-91960600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr13:91960200-91960800	Enhancers	Dnd41	blood
4	chr13:91960800-91963400	Weak transcription	Dnd41	blood

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