Variant report

Variant	nsv900938
Chromosome Location	chr13:97054658-97108949
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	chr13:97047617..97050128-chr13:97056674..97059617,2	K562	blood:

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4501	chr13:97079483-97079503	MIMAT0019037

Extended variants
information (count: 1746 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1746 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1328054	chr13:97054658-97054659	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs552471325	chr13:97054674-97054675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs140751806	chr13:97054741-97054742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149671982	chr13:97054753-97054754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548211556	chr13:97054769-97054770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568158088	chr13:97054814-97054815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs78489494	chr13:97054815-97054816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543576479	chr13:97054867-97054868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145441728	chr13:97054947-97054948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11839345	chr13:97055009-97055010	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs538885132	chr13:97055019-97055020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559172565	chr13:97055024-97055025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2389670	chr13:97055044-97055045	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs187837463	chr13:97055101-97055102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192368241	chr13:97055107-97055108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574580801	chr13:97055136-97055137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11839363	chr13:97055167-97055168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560066944	chr13:97055192-97055193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576941229	chr13:97055200-97055201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs377179389	chr13:97055201-97055202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs74470608	chr13:97055205-97055206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138154611	chr13:97055234-97055235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531686023	chr13:97055236-97055237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548199410	chr13:97055304-97055305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561703196	chr13:97055360-97055361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527376505	chr13:97055374-97055375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547443137	chr13:97055405-97055406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs142163678	chr13:97055429-97055430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs539214909	chr13:97055434-97055435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs559034975	chr13:97055437-97055438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs371439651	chr13:97055515-97055516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs552496682	chr13:97055521-97055522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs569202322	chr13:97055532-97055533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs538185718	chr13:97055619-97055620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs554525555	chr13:97055626-97055627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs373861262	chr13:97055647-97055648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs574519345	chr13:97055701-97055702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs75347726	chr13:97055713-97055714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs185512055	chr13:97055740-97055741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs190483829	chr13:97055753-97055754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs556974909	chr13:97055789-97055790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs545975451	chr13:97055818-97055819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs556330589	chr13:97055832-97055833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs192631404	chr13:97055840-97055841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs576389763	chr13:97055861-97055862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs184251445	chr13:97055862-97055863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs576099493	chr13:97055897-97055898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs544291375	chr13:97055944-97055945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs376213875	chr13:97056027-97056028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs115713900	chr13:97056029-97056030	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Omodysplasia	19481194	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
Acute myeloid leukemia	19651601	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Burkitt''s lymphoma	20823134	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21785460	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
prenatal diagnosis	22389664	CNVD

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:97047800-97055400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr13:97055400-97056600	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr13:97056400-97056800	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr13:97056400-97057400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr13:97056600-97058000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr13:97056800-97057600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr13:97056800-97058600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr13:97057400-97057800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr13:97057400-97058400	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr13:97057400-97058600	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr13:97057600-97058800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr13:97057800-97059000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr13:97058200-97058400	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr13:97058600-97059000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr13:97063800-97064600	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr13:97065200-97065400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr13:97065200-97065400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr13:97065400-97070400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr13:97065600-97066400	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr13:97065600-97067400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr13:97065800-97066200	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr13:97065800-97066600	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr13:97066400-97070800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr13:97067200-97070600	Enhancers	Fetal Brain Male	brain
25	chr13:97067400-97068000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr13:97067400-97068000	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr13:97067400-97068800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr13:97067600-97068600	Enhancers	Primary hematopoietic stem cells	blood
29	chr13:97067800-97068400	Enhancers	Brain Germinal Matrix	brain
30	chr13:97067800-97068600	Enhancers	Fetal Brain Female	brain
31	chr13:97068000-97068200	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr13:97068200-97071000	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr13:97068400-97071200	Weak transcription	Brain Germinal Matrix	brain
34	chr13:97068600-97070200	Weak transcription	Fetal Brain Female	brain
35	chr13:97068600-97070800	Weak transcription	Primary hematopoietic stem cells	blood
36	chr13:97068800-97071000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr13:97070200-97071200	Enhancers	Fetal Brain Female	brain
38	chr13:97070400-97070600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr13:97070400-97070800	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr13:97070400-97071200	Enhancers	H1 Cell Line	embryonic stem cell
41	chr13:97070400-97071600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr13:97070600-97071000	Weak transcription	Fetal Brain Male	brain
43	chr13:97070800-97071200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr13:97070800-97071200	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr13:97070800-97071400	Enhancers	Primary hematopoietic stem cells	blood
46	chr13:97071000-97071200	Enhancers	Fetal Brain Male	brain
47	chr13:97071000-97072000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr13:97071000-97078600	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr13:97071200-97071600	Enhancers	Brain Germinal Matrix	brain
50	chr13:97071200-97073800	Weak transcription	Fetal Brain Male	brain

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