Variant report

Variant	nsv1044881
Chromosome Location	chr13:67095885-67126696
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:67109100..67110769-chr13:67114510..67116820,2	K562	blood:
2	chr13:67118715..67120725-chr13:67121848..67124669,2	K562	blood:
3	chr13:67124095..67126180-chr13:67127910..67129667,2	K562	blood:
4	chr13:67118715..67120725-chr13:67121848..67124669,2	K562	blood:
5	chr13:67109100..67110769-chr13:67114510..67116820,2	K562	blood:

Extended variants
information (count: 996 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:996 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9529081	chr13:67095885-67095886	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs533834555	chr13:67095919-67095920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536933702	chr13:67095939-67095940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560935836	chr13:67095967-67095968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553696139	chr13:67096069-67096070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs9592475	chr13:67096159-67096160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs9592476	chr13:67096166-67096167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs34150352	chr13:67096168-67096169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs398037666	chr13:67096169-67096170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs576971458	chr13:67096170-67096171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs75313551	chr13:67096178-67096179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs398056491	chr13:67096184-67096185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs397750743	chr13:67096185-67096186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190280474	chr13:67096223-67096224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs539056195	chr13:67096274-67096275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555811801	chr13:67096276-67096277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576034966	chr13:67096283-67096284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs541943606	chr13:67096284-67096285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs555674637	chr13:67096295-67096296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs61955968	chr13:67096340-67096341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs375541844	chr13:67096375-67096376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs541319383	chr13:67096425-67096426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs544358284	chr13:67096426-67096427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs564781424	chr13:67096432-67096433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs17505147	chr13:67096440-67096441	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs543857219	chr13:67096445-67096446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs77391315	chr13:67096532-67096533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs9571590	chr13:67096548-67096549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs550479492	chr13:67096564-67096565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs61955969	chr13:67096570-67096571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs532397268	chr13:67096586-67096587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549495173	chr13:67096601-67096602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561729842	chr13:67096609-67096610	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527484631	chr13:67096710-67096711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550581587	chr13:67096722-67096723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547249104	chr13:67096732-67096733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570435438	chr13:67096761-67096762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539376821	chr13:67096769-67096770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181102655	chr13:67096825-67096826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185658464	chr13:67096866-67096867	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375859293	chr13:67096888-67096889	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114204769	chr13:67096899-67096900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555446544	chr13:67096921-67096922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370464589	chr13:67096961-67096962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs4144493	chr13:67097015-67097016	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs558459338	chr13:67097034-67097035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376838347	chr13:67097071-67097072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs578243950	chr13:67097136-67097137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371449584	chr13:67097149-67097150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530141437	chr13:67097153-67097154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Merkel cell carcinoma	19020549	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21858162	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	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
head and neck squamous cell carcinoma	17671120	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD
abnormal development	18461090	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
Prostate cancer	16461572	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Schizophrenia	23813976	CNVD
Prostate cancer	22341455	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67089000-67096600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr13:67093600-67096800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr13:67095400-67099200	Weak transcription	Brain Angular Gyrus	brain
4	chr13:67095400-67099200	Weak transcription	Brain Hippocampus Middle	brain
5	chr13:67095400-67099200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr13:67095600-67099000	Weak transcription	Brain Anterior Caudate	brain
7	chr13:67095600-67102600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr13:67095800-67102000	Weak transcription	Brain Substantia Nigra	brain
9	chr13:67096600-67097000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr13:67096800-67097000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr13:67099000-67099600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr13:67099000-67099600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr13:67099000-67099600	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr13:67099000-67099600	Enhancers	Brain Anterior Caudate	brain
15	chr13:67099200-67099400	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr13:67099200-67099600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr13:67099200-67099600	Enhancers	Brain Hippocampus Middle	brain
18	chr13:67099200-67099600	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr13:67099200-67099800	Enhancers	Brain Angular Gyrus	brain
20	chr13:67099200-67100000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr13:67099400-67099800	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr13:67099400-67099800	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr13:67099400-67100000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr13:67099600-67102400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr13:67099600-67102400	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr13:67099600-67102400	Weak transcription	Brain Hippocampus Middle	brain
27	chr13:67099600-67103200	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr13:67099600-67103400	Weak transcription	Brain Anterior Caudate	brain
29	chr13:67099800-67100600	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr13:67099800-67102200	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr13:67099800-67102600	Weak transcription	Brain Angular Gyrus	brain
32	chr13:67100000-67100600	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr13:67100600-67101200	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr13:67100600-67102600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr13:67101200-67102400	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr13:67102000-67102400	Enhancers	Fetal Kidney	kidney
37	chr13:67102000-67103400	Enhancers	Brain Substantia Nigra	brain
38	chr13:67102200-67105000	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr13:67102200-67105600	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr13:67102200-67105800	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr13:67102400-67102600	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr13:67102400-67102600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr13:67102400-67102600	Enhancers	Brain Hippocampus Middle	brain
44	chr13:67102400-67102800	Flanking Active TSS	Fetal Kidney	kidney
45	chr13:67102400-67102800	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr13:67102400-67102800	Active TSS	Osteobl	bone
47	chr13:67102400-67103400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr13:67102400-67104800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr13:67102400-67104800	Enhancers	H1 Cell Line	embryonic stem cell
50	chr13:67102400-67105600	Enhancers	HUES6 Cell Line	embryonic stem cell

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