Variant report

Variant	nsv1048372
Chromosome Location	chr13:55190941-55212421
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:55199830..55202056-chr13:55206437..55209228,2	MCF-7	breast:
2	chr1:114505901..114506720-chr13:55199515..55200372,2	MCF-7	breast:
3	chr13:55199830..55202056-chr13:55206437..55209228,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163349	chromatin interactions

Extended variants
information (count: 511 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:511 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117145713	chr13:55195604-55195605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs567592863	chr13:55195615-55195616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs538242923	chr13:55195625-55195626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs144891666	chr13:55195670-55195671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs74079262	chr13:55195686-55195687	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs559799276	chr13:55195714-55195715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528477183	chr13:55195738-55195739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538302838	chr13:55195927-55195928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs9536783	chr13:55195984-55195985	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs186369678	chr13:55196017-55196018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568461255	chr13:55196028-55196029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs541192364	chr13:55196040-55196041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561086765	chr13:55196112-55196113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs148701694	chr13:55196245-55196246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543683735	chr13:55196280-55196281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563472662	chr13:55196298-55196299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531725227	chr13:55196304-55196305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs191269713	chr13:55196344-55196345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565006247	chr13:55196392-55196393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs116943470	chr13:55196449-55196450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547515035	chr13:55196462-55196463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144529198	chr13:55196463-55196464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536487244	chr13:55196473-55196474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376068281	chr13:55196499-55196500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550447476	chr13:55196508-55196509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552454247	chr13:55196518-55196519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371505564	chr13:55196539-55196540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538588223	chr13:55196541-55196542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569407727	chr13:55196566-55196567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572141350	chr13:55196582-55196583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534683370	chr13:55196634-55196635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs9536784	chr13:55196653-55196654	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs574673274	chr13:55196663-55196664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147838407	chr13:55196675-55196676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2493672	chr13:55196753-55196754	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs183518192	chr13:55196791-55196792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187285011	chr13:55196811-55196812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564917955	chr13:55196879-55196880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2447972	chr13:55196908-55196909	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs538447623	chr13:55196927-55196928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141358118	chr13:55196928-55196929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530267748	chr13:55196937-55196938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550116630	chr13:55196952-55196953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570295404	chr13:55197038-55197039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190991507	chr13:55197041-55197042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553219102	chr13:55197094-55197095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532715844	chr13:55197099-55197100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552931955	chr13:55197149-55197150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183174609	chr13:55197153-55197154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534643841	chr13:55197212-55197213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

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
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	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
early-passage human iPS cells	21368824	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:55195600-55196400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr13:55196400-55198200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr13:55197600-55199200	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr13:55198200-55199800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr13:55199200-55200200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr13:55199800-55200600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr13:55200000-55200800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr13:55200200-55200600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr13:55200200-55200800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr13:55200200-55200800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr13:55200400-55200800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr13:55200400-55200800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr13:55200600-55200800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr13:55200800-55207600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr13:55201800-55202200	Enhancers	Pancreas	Pancrea
16	chr13:55207200-55207600	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr13:55207400-55207600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr13:55207400-55207800	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr13:55207400-55210000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr13:55207600-55207800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr13:55207600-55207800	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr13:55207600-55207800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr13:55207600-55208000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr13:55207600-55208000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr13:55207600-55208000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr13:55207600-55208000	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr13:55207600-55210200	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr13:55207600-55210400	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr13:55207800-55208000	Enhancers	H9 Cell Line	embryonic stem cell
30	chr13:55207800-55208000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr13:55207800-55210200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr13:55207800-55211400	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr13:55208000-55210200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr13:55208000-55210600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr13:55208000-55210600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr13:55208000-55211600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr13:55208000-55212600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr13:55208200-55211600	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr13:55209200-55209400	Enhancers	Fetal Intestine Small	intestine
40	chr13:55209400-55210200	Weak transcription	Fetal Intestine Small	intestine
41	chr13:55210000-55210400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr13:55210200-55210400	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr13:55210200-55210800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr13:55210200-55210800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr13:55210200-55210800	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr13:55210200-55210800	Enhancers	Fetal Intestine Small	intestine
47	chr13:55210400-55210600	Enhancers	Gastric	stomach
48	chr13:55210400-55210800	Enhancers	H1 Cell Line	embryonic stem cell
49	chr13:55210400-55210800	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr13:55210400-55211000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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