Variant report

Variant	nsv1130
Chromosome Location	chr13:94410849-94455628
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:94422038..94423634-chr13:94425606..94427255,2	K562	blood:
2	chr13:94422038..94423634-chr13:94425606..94427255,2	K562	blood:
3	chr13:94403218..94405199-chr13:94408583..94411196,2	MCF-7	breast:
4	chr13:93879582..93881413-chr13:94446291..94448789,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPR180-9	chr13:94416883-94417110	uc_355_+
2	lnc-DCT-14	chr13:94416883-94417110	uc_355_-

Extended variants
information (count: 1539 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1539 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9524197	chr13:94410912-94410913	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs192272625	chr13:94410922-94410923	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs9524198	chr13:94410992-94410993	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs574451746	chr13:94410995-94410996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540232816	chr13:94411048-94411049	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs559191366	chr13:94411062-94411063	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs528389334	chr13:94411083-94411084	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs372203619	chr13:94411112-94411113	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs545320001	chr13:94411150-94411151	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs564912270	chr13:94411206-94411207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs143445751	chr13:94411236-94411237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs180870163	chr13:94411272-94411273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567379368	chr13:94411354-94411355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs207474267	chr13:94411358-94411359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs529668141	chr13:94411364-94411365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs146279577	chr13:94411436-94411437	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs139256627	chr13:94411442-94411443	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs538940822	chr13:94411446-94411447	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs28725262	chr13:94411451-94411452	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs569342269	chr13:94411454-94411455	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs538441853	chr13:94411482-94411483	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs554593102	chr13:94411497-94411498	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs574611499	chr13:94411504-94411505	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs34015625	chr13:94411512-94411513	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs540198079	chr13:94411515-94411516	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs369335459	chr13:94411540-94411541	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs553732843	chr13:94411598-94411599	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs577198854	chr13:94411627-94411628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185920335	chr13:94411636-94411637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs374044471	chr13:94411698-94411699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs191273987	chr13:94411707-94411708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs183380870	chr13:94411711-94411712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs377665471	chr13:94411745-94411746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs560255557	chr13:94411801-94411802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs560940310	chr13:94411825-94411826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs529831959	chr13:94411831-94411832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546754058	chr13:94411834-94411835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs566339762	chr13:94411852-94411853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs368672876	chr13:94411915-94411916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs187109894	chr13:94411955-94411956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs552551810	chr13:94412119-94412120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs386773461	chr13:94412128-94412129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs190802198	chr13:94412254-94412255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375588520	chr13:94412273-94412274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs79402208	chr13:94412278-94412279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs386380264	chr13:94412279-94412280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs386380265	chr13:94412288-94412289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs397693080	chr13:94412289-94412290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200180967	chr13:94412291-94412292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538021083	chr13:94412292-94412293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
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
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	19651601	CNVD
Effusion lymphoma	18079361	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	21251322	CNVD
Osteosarcoma	21215367	CNVD

Chromatin state (count:261 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:94400400-94411000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr13:94403200-94412400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr13:94403400-94411000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr13:94403600-94411000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr13:94409600-94411000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr13:94409800-94411400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr13:94410000-94411400	Enhancers	HepG2	liver
8	chr13:94410000-94411600	Enhancers	HUVEC	blood vessel
9	chr13:94410400-94411200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr13:94410400-94411200	Enhancers	Muscle Satellite Cultured Cells	--
11	chr13:94410400-94411400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr13:94410400-94411400	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr13:94410400-94411600	Enhancers	NH-A	brain
14	chr13:94410600-94411400	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr13:94410800-94411000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr13:94410800-94411400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr13:94410800-94411400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr13:94411000-94411200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
19	chr13:94411000-94411400	Enhancers	H9 Cell Line	embryonic stem cell
20	chr13:94411000-94411400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr13:94411000-94411600	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr13:94411200-94411400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr13:94411200-94411400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr13:94411400-94411600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
25	chr13:94411400-94412800	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr13:94411600-94412200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr13:94412400-94412800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr13:94412800-94413000	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr13:94413800-94419800	Weak transcription	Fetal Kidney	kidney
30	chr13:94414200-94416600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr13:94415600-94415800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
32	chr13:94415800-94423600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr13:94416600-94429000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr13:94416800-94417000	Enhancers	Ovary	ovary
35	chr13:94417000-94419200	Weak transcription	Ovary	ovary
36	chr13:94417800-94418800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr13:94417800-94419000	Enhancers	HepG2	liver
38	chr13:94418000-94418400	Enhancers	Fetal Intestine Large	intestine
39	chr13:94418200-94418400	Enhancers	Fetal Stomach	stomach
40	chr13:94418200-94419000	Enhancers	Liver	Liver
41	chr13:94418400-94419400	Weak transcription	Fetal Intestine Large	intestine
42	chr13:94418600-94419800	Weak transcription	Fetal Stomach	stomach
43	chr13:94418800-94419200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr13:94419000-94419200	Weak transcription	HepG2	liver
45	chr13:94419000-94419400	Flanking Active TSS	Liver	Liver
46	chr13:94419200-94419400	Enhancers	Pancreatic Islets	Pancreatic Islet
47	chr13:94419200-94419600	Active TSS	Aorta	Aorta
48	chr13:94419200-94419800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr13:94419200-94419800	Active TSS	Ovary	ovary
50	chr13:94419200-94420000	Active TSS	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links