Variant report

Variant	nsv832665
Chromosome Location	chr13:84848087-85041311
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:2)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:84940801..84943789-chr13:84949467..84951854,2	MCF-7	breast:
2	chr13:84940801..84943789-chr13:84949467..84951854,2	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLITRK5-33	chr13:85014374-85014466	NONHSAT034550
2	lnc-SLITRK5-33	chr13:85005210-85005339	NONHSAT034550
3	lnc-SLITRK5-33	chr13:84883737-84884253	l_892_chr13:84835760-84884253_testes
4	lnc-SLITRK5-33	chr13:85016512-85016706	NONHSAT034550
5	lnc-SLITRK5-33	chr13:84880741-84880883	l_892_chr13:84835760-84884253_testes

No data

Extended variants
information (count: 3181 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:3181 , 50 per page) page: 1 2 3 4 5 6 7 ... 64

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9602425	chr13:84852860-84852861	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs561143713	chr13:84852884-84852885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs9602426	chr13:84852895-84852896	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs17077916	chr13:84852941-84852942	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs563416308	chr13:84852978-84852979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181912129	chr13:84853455-84853456	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545549068	chr13:84853465-84853466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139431929	chr13:84853478-84853479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150060160	chr13:84853546-84853547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200040382	chr13:84853591-84853592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541806749	chr13:84853631-84853632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs9546644	chr13:84853648-84853649	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs7327504	chr13:84853705-84853706	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs549982866	chr13:84853786-84853787	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574827763	chr13:84853853-84853854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369422011	chr13:84853876-84853877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532646294	chr13:84853884-84853885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186090858	chr13:84853898-84853899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566160274	chr13:84853945-84853946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534746337	chr13:84853980-84853981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554989391	chr13:84853982-84853983	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs147249680	chr13:84854072-84854073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs61960272	chr13:84854184-84854185	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs191047785	chr13:84854217-84854218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144351189	chr13:84854267-84854268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371607992	chr13:84854318-84854319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182569188	chr13:84854394-84854395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545886131	chr13:84854398-84854399	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530347837	chr13:84854410-84854411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9602428	chr13:84854459-84854460	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs572886180	chr13:84854478-84854479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541451570	chr13:84854515-84854516	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148765750	chr13:84854550-84854551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574808563	chr13:84854561-84854562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543666836	chr13:84854567-84854568	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370951287	chr13:84854696-84854697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs143710700	chr13:84854742-84854743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs532639519	chr13:84854805-84854806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs146803530	chr13:84854806-84854807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs140522642	chr13:84854809-84854810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs188437470	chr13:84854855-84854856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs548626079	chr13:84854861-84854862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs568433636	chr13:84854870-84854871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs191129944	chr13:84854885-84854886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs537354912	chr13:84854962-84854963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs77564662	chr13:84854964-84854965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs76922819	chr13:84854965-84854966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs76080320	chr13:84854966-84854967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs549747414	chr13:84854993-84854994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs555667771	chr13:84866205-84866206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Developmental delay	21147756	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
Breast cancer	21858162	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
abnormal development	18461090	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	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
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	19490664	CNVD
Neurodevelopmental disorder	22521361	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Epilepsy	20502679	CNVD
Non-small cell lung cancer	16651412	CNVD
Osteosarcoma	21215367	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:84852800-84853000	Enhancers	Fetal Heart	heart
2	chr13:84853400-84854400	Weak transcription	Fetal Heart	heart
3	chr13:84853400-84854600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr13:84853400-84854600	Enhancers	NHEK	skin
5	chr13:84853400-84854800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr13:84853600-84854200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr13:84854200-84854600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr13:84854400-84854800	Enhancers	Fetal Heart	heart
9	chr13:84854600-84855000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr13:84866200-84866600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr13:84866600-84866800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr13:84870400-84870800	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr13:84870400-84870800	Enhancers	H9 Cell Line	embryonic stem cell
14	chr13:84870400-84870800	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr13:84870400-84871600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr13:84877200-84877400	Enhancers	Aorta	Aorta
17	chr13:84877200-84877600	Enhancers	Dnd41	blood
18	chr13:84880400-84880600	Enhancers	Left Ventricle	heart
19	chr13:84888400-84888600	Enhancers	Brain Germinal Matrix	brain
20	chr13:84888800-84891000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr13:84889200-84889600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr13:84889200-84891000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr13:84889400-84890200	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr13:84889600-84890000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr13:84889600-84890000	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr13:84889600-84890000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr13:84889600-84890000	Enhancers	Brain Substantia Nigra	brain
28	chr13:84889600-84890200	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr13:84889600-84890200	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr13:84889600-84890200	Enhancers	Fetal Brain Female	brain
31	chr13:84889600-84890400	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr13:84890000-84890400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr13:84890600-84891000	Enhancers	Brain Germinal Matrix	brain
34	chr13:84891000-84893000	Weak transcription	Brain Germinal Matrix	brain
35	chr13:84891000-84893200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr13:84893000-84894800	Enhancers	Brain Germinal Matrix	brain
37	chr13:84893200-84895000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr13:84893600-84894600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr13:84902800-84903200	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr13:84906000-84906600	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr13:84906000-84906800	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr13:84906000-84907000	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr13:84906400-84907000	Enhancers	Brain Germinal Matrix	brain
44	chr13:84906400-84907000	Enhancers	Fetal Brain Male	brain
45	chr13:84906600-84907000	Enhancers	Fetal Brain Female	brain
46	chr13:84910200-84910800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr13:84924000-84924400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr13:84926600-84927800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr13:84927000-84927800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr13:84930000-84930400	Enhancers	HUES48 Cell Line	embryonic stem cell

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