Variant report

Variant	esv274954
Chromosome Location	chr13:95617339-95621812
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	chr13:95619254..95622585-chr13:95624903..95627476,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPR180-6	chr13:95620881-95621161	NONHSAT034746

Extended variants
information (count: 149 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:149 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9590146	chr13:95617339-95617340	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs17189264	chr13:95617410-95617411	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs9590147	chr13:95617415-95617416	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs550320299	chr13:95617460-95617461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567243043	chr13:95617461-95617462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs536356143	chr13:95617504-95617505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs114386998	chr13:95617541-95617542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs80203081	chr13:95617546-95617547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs34167544	chr13:95617561-95617562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs5805892	chr13:95617579-95617580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs538228561	chr13:95617580-95617581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs77591734	chr13:95617591-95617592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs60934399	chr13:95617592-95617593	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs537267593	chr13:95617594-95617595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs60025239	chr13:95617595-95617596	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs575485733	chr13:95617615-95617616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544462381	chr13:95617641-95617642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs4424786	chr13:95617656-95617657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs542541388	chr13:95617679-95617680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs61965509	chr13:95617694-95617695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs529313761	chr13:95617698-95617699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190992694	chr13:95617840-95617841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs58644745	chr13:95617843-95617844	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs559463841	chr13:95617852-95617853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs561925686	chr13:95617868-95617869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs528562114	chr13:95617922-95617923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs112408320	chr13:95617923-95617924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs185966239	chr13:95617928-95617929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs531130025	chr13:95617954-95617955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs551248867	chr13:95617956-95617957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs567279791	chr13:95618021-95618022	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs190923396	chr13:95618083-95618084	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs11840169	chr13:95618093-95618094	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs9524716	chr13:95618150-95618151	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs541489785	chr13:95618163-95618164	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs61695658	chr13:95618169-95618170	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs538712516	chr13:95618190-95618191	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs10162016	chr13:95618192-95618193	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs558491558	chr13:95618219-95618220	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs575371117	chr13:95618230-95618231	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs183069441	chr13:95618255-95618256	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs532313274	chr13:95618271-95618272	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs76010102	chr13:95618324-95618325	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs569100873	chr13:95618326-95618327	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs574385520	chr13:95618327-95618328	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs542639328	chr13:95618406-95618407	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs559303884	chr13:95618512-95618513	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs140963548	chr13:95618576-95618577	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs545455080	chr13:95618623-95618624	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs565341089	chr13:95618638-95618639	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers	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
Rhabdomyosarcoma	17210683	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	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
Acute myeloid leukemia	19651601	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Intellectual disability	22102821	CNVD

Chromatin state (count:320 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95616000-95618400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr13:95616200-95618000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr13:95616400-95618000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr13:95616400-95619600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr13:95616600-95617800	Weak transcription	Stomach Mucosa	stomach
6	chr13:95617600-95618800	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr13:95617800-95618800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr13:95617800-95619200	Enhancers	Stomach Mucosa	stomach
9	chr13:95618000-95618600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr13:95618000-95618800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr13:95618000-95619000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr13:95618000-95619400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
13	chr13:95618000-95619400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
14	chr13:95618400-95618600	Bivalent Enhancer	Fetal Brain Male	brain
15	chr13:95618400-95619400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr13:95618400-95619400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr13:95618400-95619600	Enhancers	Brain Germinal Matrix	brain
18	chr13:95618400-95619600	Bivalent Enhancer	Brain Hippocampus Middle	brain
19	chr13:95618600-95618800	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr13:95618600-95619000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
21	chr13:95618600-95619200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr13:95618600-95619600	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr13:95618800-95619000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
24	chr13:95618800-95619000	Enhancers	H1 Cell Line	embryonic stem cell
25	chr13:95618800-95619000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr13:95618800-95619000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
27	chr13:95618800-95619000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
28	chr13:95618800-95619000	Bivalent Enhancer	Brain Anterior Caudate	brain
29	chr13:95618800-95619000	Enhancers	Brain Substantia Nigra	brain
30	chr13:95618800-95619000	Enhancers	Gastric	stomach
31	chr13:95618800-95619000	Enhancers	Pancreas	Pancrea
32	chr13:95618800-95619200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
33	chr13:95618800-95619400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
34	chr13:95618800-95619400	Enhancers	A549	lung
35	chr13:95618800-95619600	Enhancers	Brain Cingulate Gyrus	brain
36	chr13:95619000-95619200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr13:95619000-95619200	Bivalent Enhancer	Brain Angular Gyrus	brain
38	chr13:95619000-95619200	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
39	chr13:95619000-95619400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr13:95619000-95619400	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
41	chr13:95619000-95619600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr13:95619000-95619600	Weak transcription	Pancreas	Pancrea
43	chr13:95619200-95619400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr13:95619200-95619400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr13:95619200-95619600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
46	chr13:95619200-95619600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr13:95619200-95619600	Weak transcription	Brain Substantia Nigra	brain
48	chr13:95619200-95620200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
49	chr13:95619400-95619600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr13:95619400-95619600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell

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