Variant report

Variant	nsv562769
Chromosome Location	chr13:95910726-95918063
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:95906705..95908282-chr13:95912986..95914851,2	K562	blood:
2	chr13:95906835..95908604-chr13:95908820..95911598,2	K562	blood:
3	chr13:95912252..95914596-chr13:95915357..95918104,2	K562	blood:
4	chr13:95911255..95914596-chr13:95915357..95918944,4	K562	blood:
5	chr13:95912252..95914596-chr13:95915357..95918104,2	K562	blood:
6	chr13:95911255..95914596-chr13:95915357..95918944,4	K562	blood:

Extended variants
information (count: 323 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:323 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9516551	chr13:95910726-95910727	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs540358025	chr13:95910728-95910729	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
3	rs560370659	chr13:95910741-95910742	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
4	rs189292790	chr13:95910745-95910746	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
5	rs3764050	chr13:95910746-95910747	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs148576404	chr13:95910758-95910759	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
7	rs532055124	chr13:95910823-95910824	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs4773863	chr13:95910848-95910849	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs369316120	chr13:95910887-95910888	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs528907239	chr13:95910907-95910908	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
11	rs145643519	chr13:95910928-95910929	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
12	rs373114670	chr13:95910934-95910935	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
13	rs568084932	chr13:95910951-95910952	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
14	rs1056164	chr13:95910981-95910982	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
15	rs533753808	chr13:95910999-95911000	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
16	rs548675576	chr13:95911004-95911005	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs147726394	chr13:95911012-95911013	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs534952861	chr13:95911013-95911014	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs376303546	chr13:95911056-95911057	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs142534703	chr13:95911058-95911059	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs2389228	chr13:95911113-95911114	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs556092611	chr13:95911140-95911141	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs386773572	chr13:95911182-95911183	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs576149818	chr13:95911210-95911211	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs145172893	chr13:95911212-95911213	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs555222959	chr13:95911217-95911218	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs374162085	chr13:95911230-95911231	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs574529648	chr13:95911234-95911235	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs540225225	chr13:95911256-95911257	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs554290912	chr13:95911297-95911298	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs9590223	chr13:95911306-95911307	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs546240439	chr13:95911314-95911315	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs562956435	chr13:95911365-95911366	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs531913384	chr13:95911378-95911379	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs150947029	chr13:95911383-95911384	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs201078452	chr13:95911391-95911392	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs373772929	chr13:95911398-95911399	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs140712030	chr13:95911432-95911433	Enhancers Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs570385245	chr13:95911494-95911495	Enhancers Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs532900231	chr13:95911508-95911509	Enhancers Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs59257629	chr13:95911549-95911550	Enhancers Weak transcription Strong transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs12863008	chr13:95911557-95911558	Enhancers Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs553236334	chr13:95911576-95911577	Enhancers Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs548052466	chr13:95911585-95911586	Enhancers Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs7317603	chr13:95911611-95911612	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs7319126	chr13:95911628-95911629	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs34271246	chr13:95911634-95911635	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
48	rs533153230	chr13:95911635-95911636	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
49	rs11462774	chr13:95911642-95911643	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
50	rs398056735	chr13:95911647-95911648	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95879200-95914000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr13:95880600-95922600	Weak transcription	Psoas Muscle	Psoas
3	chr13:95887000-95918800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr13:95896200-95923400	Weak transcription	Ovary	ovary
5	chr13:95897000-95927400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr13:95898800-95919600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr13:95899000-95919600	Weak transcription	Fetal Lung	lung
8	chr13:95899800-95919600	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr13:95900000-95918600	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr13:95900000-95918800	Weak transcription	Lung	lung
11	chr13:95900000-95919000	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr13:95900000-95920000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr13:95904000-95917800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr13:95907000-95917800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr13:95908000-95916600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr13:95908000-95926600	Weak transcription	Gastric	stomach
17	chr13:95908800-95917800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr13:95908800-95917800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr13:95908800-95917800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr13:95908800-95918000	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr13:95908800-95919400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr13:95908800-95919400	Weak transcription	NH-A	brain
23	chr13:95908800-95919600	Weak transcription	Colon Smooth Muscle	Colon
24	chr13:95908800-95919600	Weak transcription	HSMMtube	muscle
25	chr13:95908800-95920000	Weak transcription	Pancreas	Pancrea
26	chr13:95909000-95917800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr13:95909000-95919400	Weak transcription	HSMM	muscle
28	chr13:95909200-95912600	Weak transcription	HUVEC	blood vessel
29	chr13:95909200-95918200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr13:95909200-95919600	Weak transcription	NHEK	skin
31	chr13:95909400-95914600	Enhancers	HepG2	liver
32	chr13:95909400-95916200	Weak transcription	NHLF	lung
33	chr13:95909800-95912800	Enhancers	Duodenum Mucosa	Duodenum
34	chr13:95910000-95914600	Enhancers	Fetal Intestine Large	intestine
35	chr13:95910200-95911000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr13:95910200-95911400	Enhancers	Fetal Intestine Small	intestine
37	chr13:95910200-95911800	Enhancers	GM12878-XiMat	blood
38	chr13:95910200-95927400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr13:95910400-95912400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr13:95910400-95918600	Weak transcription	NHDF-Ad	bronchial
41	chr13:95910600-95910800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr13:95910600-95910800	Strong transcription	K562	blood
43	chr13:95910600-95911000	Transcr. at gene 5' and 3'	A549	lung
44	chr13:95910600-95911200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr13:95910600-95911400	Strong transcription	Muscle Satellite Cultured Cells	--
46	chr13:95910600-95911600	Enhancers	Small Intestine	intestine
47	chr13:95910600-95918000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr13:95910800-95911400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr13:95910800-95911800	Weak transcription	K562	blood
50	chr13:95911000-95911600	Active TSS	A549	lung

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