Variant report

Variant	nsv900941
Chromosome Location	chr13:98230575-98267751
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	chr13:98240997..98241729-chr13:98311645..98312458,2	MCF-7	breast:

Extended variants
information (count: 815 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:815 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4771276	chr13:98230575-98230576	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs547458892	chr13:98230650-98230651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148206343	chr13:98230654-98230655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557064260	chr13:98230669-98230670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532917514	chr13:98230710-98230711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112409608	chr13:98230750-98230751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552626876	chr13:98230762-98230763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569171702	chr13:98230788-98230789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538069958	chr13:98230799-98230800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373199167	chr13:98230800-98230801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554697303	chr13:98230838-98230839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs141198904	chr13:98230860-98230861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs150747632	chr13:98230861-98230862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139334384	chr13:98230876-98230877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs114883126	chr13:98230967-98230968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546163631	chr13:98230994-98230995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs77289594	chr13:98230998-98230999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs116795768	chr13:98231038-98231039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs181278163	chr13:98231052-98231053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs71434541	chr13:98231062-98231063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs113834078	chr13:98231090-98231091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561904244	chr13:98231119-98231120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs560337414	chr13:98231132-98231133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs572202860	chr13:98231135-98231136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs540794684	chr13:98231230-98231231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564190889	chr13:98231316-98231317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567564043	chr13:98231317-98231318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs549336638	chr13:98231319-98231320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs372356950	chr13:98231323-98231324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs562847954	chr13:98231366-98231367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs531846801	chr13:98231387-98231388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs377286453	chr13:98231441-98231442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371133564	chr13:98231444-98231445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532134795	chr13:98231454-98231455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548466037	chr13:98231511-98231512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs116352885	chr13:98231532-98231533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142977679	chr13:98231552-98231553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375504822	chr13:98231568-98231569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs146142085	chr13:98231586-98231587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185867401	chr13:98231621-98231622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190288450	chr13:98231790-98231791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556555121	chr13:98231834-98231835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368645556	chr13:98231851-98231852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs367856595	chr13:98231894-98231895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536906727	chr13:98231914-98231915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs180690873	chr13:98231986-98231987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535794754	chr13:98231991-98231992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555677893	chr13:98232043-98232044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs16954171	chr13:98232079-98232080	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs370237499	chr13:98232116-98232117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
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
Breast cancer	22032731	CNVD
Rhabdomyosarcoma	17210683	CNVD
Wilms tumour	21544195	CNVD
Developmental delay	21147756	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
Esophageal adenocarcinoma	18820669	CNVD
Burkitt''s lymphoma	20823134	CNVD
Breast cancer	21785460	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	21364760	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:98221400-98234200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr13:98225600-98232000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr13:98229600-98232400	Weak transcription	HepG2	liver
4	chr13:98229800-98231000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr13:98231000-98231400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr13:98232000-98232200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr13:98232000-98232600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr13:98232200-98234200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr13:98232400-98233600	Enhancers	HepG2	liver
10	chr13:98232600-98233600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr13:98232600-98234800	Enhancers	Fetal Intestine Small	intestine
12	chr13:98232600-98237400	Enhancers	Fetal Intestine Large	intestine
13	chr13:98233000-98234600	Enhancers	Liver	Liver
14	chr13:98233600-98233800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr13:98233600-98233800	Flanking Active TSS	HepG2	liver
16	chr13:98233800-98234000	Enhancers	HepG2	liver
17	chr13:98233800-98234200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr13:98234000-98234200	Flanking Active TSS	HepG2	liver
19	chr13:98234000-98234400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr13:98234000-98235000	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr13:98234200-98234400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr13:98234200-98234600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr13:98234200-98235200	Enhancers	HepG2	liver
24	chr13:98234200-98237400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr13:98234400-98235800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr13:98234400-98235800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr13:98234800-98235800	Weak transcription	Fetal Intestine Small	intestine
28	chr13:98235000-98236000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr13:98235200-98235600	Weak transcription	HepG2	liver
30	chr13:98235600-98237800	Enhancers	HepG2	liver
31	chr13:98235800-98236000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
32	chr13:98235800-98236200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr13:98235800-98236600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr13:98235800-98237400	Enhancers	Fetal Intestine Small	intestine
35	chr13:98236000-98236200	Enhancers	Pancreas	Pancrea
36	chr13:98236000-98236400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
37	chr13:98236000-98237800	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr13:98236200-98237000	Enhancers	Fetal Heart	heart
39	chr13:98236200-98237200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr13:98236600-98237000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr13:98237000-98237200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr13:98237000-98237600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr13:98237000-98238000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr13:98237000-98240200	Weak transcription	Fetal Heart	heart
45	chr13:98237200-98237600	Enhancers	Placenta Amnion	Placenta Amnion
46	chr13:98237200-98238000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr13:98237400-98239000	Weak transcription	Fetal Intestine Large	intestine
48	chr13:98239200-98239400	Enhancers	Fetal Intestine Large	intestine
49	chr13:98249800-98250800	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr13:98249800-98251000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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