Variant report

Variant	nsv900090
Chromosome Location	chr13:53429453-53495715
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:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:53433491..53436451-chr13:53545366..53547312,2	MCF-7	breast:
2	chr13:53461940..53463906-chr13:53466644..53468336,2	MCF-7	breast:
3	chr13:53484977..53486705-chr13:53488074..53490777,2	K562	blood:
4	chr13:53490145..53492114-chr13:53495948..53497720,2	MCF-7	breast:
5	chr13:53436203..53437284-chr13:53541893..53542828,3	MCF-7	breast:
6	chr13:53430783..53432822-chr13:53436862..53438439,2	MCF-7	breast:
7	chr13:53461940..53463906-chr13:53466644..53468336,2	MCF-7	breast:
8	chr13:53436613..53437297-chr13:53775140..53775836,2	MCF-7	breast:
9	chr13:53424598..53426748-chr13:53456688..53458919,2	MCF-7	breast:
10	chr13:53427306..53429529-chr13:53434457..53436275,3	MCF-7	breast:
11	chr13:53424886..53426427-chr13:53428788..53431175,2	MCF-7	breast:
12	chr13:53423269..53426675-chr13:53427472..53433524,8	MCF-7	breast:
13	chr13:53471668..53472284-chr13:53541753..53542848,5	MCF-7	breast:
14	chr13:53484977..53486705-chr13:53488074..53490777,2	K562	blood:
15	chr13:53430783..53432822-chr13:53436862..53438439,2	MCF-7	breast:
16	chr13:53436242..53436760-chr13:53542342..53542902,2	K562	blood:
17	chr13:53425388..53426892-chr13:53431589..53434414,2	MCF-7	breast:
18	chr13:53449518..53452433-chr13:53575693..53577870,2	K562	blood:
19	chr13:53424477..53427390-chr13:53433560..53435155,3	MCF-7	breast:
20	chr13:53432415..53433397-chr7:61969357..61970027,2	MCF-7	breast:
21	chr13:53470858..53471661-chr13:53542403..53542998,2	MCF-7	breast:
22	chr13:53436129..53437138-chr13:53725658..53726672,3	MCF-7	breast:
23	chr13:53427306..53429529-chr13:53434457..53436275,3	MCF-7	breast:
24	chr13:53436198..53437192-chr13:53541905..53542851,4	MCF-7	breast:
25	chr13:53423777..53426647-chr13:53440227..53445526,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000237092	chromatin interactions

Extended variants
information (count: 2341 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:2341 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs471680	chr13:53429453-53429454	Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs183406194	chr13:53429460-53429461	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs187695465	chr13:53429468-53429469	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs566469069	chr13:53429479-53429480	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs535454334	chr13:53429504-53429505	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs555457490	chr13:53429510-53429511	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs372275909	chr13:53429538-53429539	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs575257143	chr13:53429551-53429552	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs375138428	chr13:53429557-53429558	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs559234	chr13:53429651-53429652	Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs529483029	chr13:53429689-53429690	Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs554723510	chr13:53429695-53429696	Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs558044533	chr13:53429777-53429778	Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs191507501	chr13:53429873-53429874	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs540559969	chr13:53429993-53429994	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs548127036	chr13:53430073-53430074	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs560422813	chr13:53430085-53430086	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs149273464	chr13:53430097-53430098	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs116872348	chr13:53430156-53430157	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs562609003	chr13:53430168-53430169	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs531697988	chr13:53430199-53430200	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs144515703	chr13:53430218-53430219	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs117329685	chr13:53430314-53430315	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552843	chr13:53430361-53430362	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533197628	chr13:53430365-53430366	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149867398	chr13:53430368-53430369	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546878789	chr13:53430369-53430370	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184306155	chr13:53430394-53430395	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535415594	chr13:53430455-53430456	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548982417	chr13:53430470-53430471	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568861108	chr13:53430483-53430484	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538713500	chr13:53430538-53430539	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs114698268	chr13:53430576-53430577	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552333830	chr13:53430579-53430580	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558178218	chr13:53430635-53430636	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7327105	chr13:53430645-53430646	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs578080523	chr13:53430700-53430701	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs137934453	chr13:53430718-53430719	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs74322507	chr13:53430745-53430746	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574009708	chr13:53430761-53430762	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542950070	chr13:53430793-53430794	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562522265	chr13:53430796-53430797	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576429929	chr13:53430810-53430811	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545165686	chr13:53430863-53430864	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574311925	chr13:53430870-53430871	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189107102	chr13:53430874-53430875	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192963114	chr13:53430898-53430899	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546840159	chr13:53430904-53430905	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200938406	chr13:53430937-53430938	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560421272	chr13:53430955-53430956	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:112)

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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	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
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21858162	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	18852474	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:475 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53426000-53437000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr13:53426800-53433800	Weak transcription	Dnd41	blood
3	chr13:53427000-53430200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:53427600-53430400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr13:53427800-53430000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr13:53428200-53429800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr13:53429200-53429800	Flanking Active TSS	GM12878-XiMat	blood
8	chr13:53429600-53430200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr13:53429800-53430400	Enhancers	GM12878-XiMat	blood
10	chr13:53429800-53432000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr13:53430000-53430800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr13:53430200-53430400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
13	chr13:53430200-53431000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr13:53430200-53431000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
15	chr13:53430200-53431800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr13:53430400-53431200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr13:53430400-53434000	Weak transcription	GM12878-XiMat	blood
18	chr13:53430800-53441400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr13:53431000-53431200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr13:53432800-53433000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
21	chr13:53433800-53436600	Enhancers	Dnd41	blood
22	chr13:53434000-53434200	Enhancers	GM12878-XiMat	blood
23	chr13:53434200-53434600	Weak transcription	GM12878-XiMat	blood
24	chr13:53434600-53436200	Enhancers	GM12878-XiMat	blood
25	chr13:53436000-53437200	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr13:53436200-53436400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr13:53436200-53436600	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr13:53436200-53437200	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr13:53436200-53441600	Weak transcription	GM12878-XiMat	blood
30	chr13:53436400-53437000	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr13:53436400-53437200	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr13:53436600-53436800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr13:53436600-53438600	Weak transcription	Dnd41	blood
34	chr13:53436800-53437200	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr13:53437000-53437200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr13:53437000-53437400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr13:53437200-53441200	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr13:53437200-53441400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr13:53437400-53441600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr13:53438600-53441000	Enhancers	Dnd41	blood
41	chr13:53438800-53439000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr13:53439000-53439200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr13:53439000-53439400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr13:53439200-53439400	Enhancers	Fetal Brain Female	brain
45	chr13:53439200-53441200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr13:53439400-53439600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr13:53439400-53441600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr13:53439600-53441600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr13:53441000-53442200	Enhancers	H9 Cell Line	embryonic stem cell
50	chr13:53441000-53442400	Flanking Active TSS	Dnd41	blood

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