Variant report

Variant	nsv1042195
Chromosome Location	chr13:67094356-67143770
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:67130437..67132993-chr13:67135417..67138774,3	K562	blood:
2	chr13:67109100..67110769-chr13:67114510..67116820,2	K562	blood:
3	chr13:67130437..67132993-chr13:67135417..67138774,3	K562	blood:
4	chr13:67130453..67132993-chr13:67135238..67136917,2	K562	blood:
5	chr13:67118715..67120725-chr13:67121848..67124669,2	K562	blood:
6	chr13:67109100..67110769-chr13:67114510..67116820,2	K562	blood:
7	chr13:67130453..67132993-chr13:67135238..67136917,2	K562	blood:
8	chr13:67090368..67092830-chr13:67094169..67095769,2	K562	blood:
9	chr13:67118715..67120725-chr13:67121848..67124669,2	K562	blood:
10	chr13:67124095..67126180-chr13:67127910..67129667,2	K562	blood:
11	chr13:67124095..67126180-chr13:67127910..67129667,2	K562	blood:

No data

Extended variants
information (count: 1677 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:1677 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184848201	chr13:67094414-67094415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs12867615	chr13:67094415-67094416	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs568437631	chr13:67094416-67094417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs17583099	chr13:67094453-67094454	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs532363340	chr13:67094455-67094456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547835376	chr13:67094458-67094459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570981492	chr13:67094534-67094535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189570657	chr13:67094571-67094572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539969317	chr13:67094603-67094604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs386771871	chr13:67094634-67094635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs6562458	chr13:67094635-67094636	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs9540785	chr13:67094657-67094658	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs554882163	chr13:67094684-67094685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs372021894	chr13:67094694-67094695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574331455	chr13:67094708-67094709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs146627185	chr13:67094718-67094719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs376763241	chr13:67094742-67094743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560163668	chr13:67094784-67094785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs576506053	chr13:67094791-67094792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs545527243	chr13:67094801-67094802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs562731679	chr13:67094810-67094811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs531832343	chr13:67094813-67094814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs542461755	chr13:67094817-67094818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs562260112	chr13:67094823-67094824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs369446657	chr13:67094895-67094896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs527657171	chr13:67094900-67094901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs141429015	chr13:67094956-67094957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs143004452	chr13:67094959-67094960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs533458386	chr13:67095002-67095003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs533690241	chr13:67095019-67095020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs151139989	chr13:67095053-67095054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs567017141	chr13:67095063-67095064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs17081413	chr13:67095107-67095108	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs537650791	chr13:67095164-67095165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs534225401	chr13:67095179-67095180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs554812105	chr13:67095344-67095345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs568283665	chr13:67095380-67095381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534120724	chr13:67095384-67095385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs9540786	chr13:67095446-67095447	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs576469450	chr13:67095488-67095489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs545490376	chr13:67095492-67095493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs372247731	chr13:67095517-67095518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs577755158	chr13:67095530-67095531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576195554	chr13:67095555-67095556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs542079712	chr13:67095575-67095576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs17081418	chr13:67095576-67095577	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs530702176	chr13:67095583-67095584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs117547294	chr13:67095623-67095624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs112986329	chr13:67095625-67095626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs541751610	chr13:67095667-67095668	Weak transcription Enhancers	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:240 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67088600-67094600	Weak transcription	Brain Substantia Nigra	brain
2	chr13:67089000-67094600	Weak transcription	Brain Angular Gyrus	brain
3	chr13:67089000-67096600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr13:67089200-67095000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr13:67089200-67095000	Weak transcription	Brain Hippocampus Middle	brain
6	chr13:67093600-67096800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr13:67094200-67095400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr13:67094400-67095400	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr13:67094600-67095400	Enhancers	Brain Angular Gyrus	brain
10	chr13:67094600-67095800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr13:67094600-67095800	Enhancers	Brain Substantia Nigra	brain
12	chr13:67094800-67095400	Enhancers	Adipose Nuclei	Adipose
13	chr13:67094800-67095400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr13:67094800-67095600	Enhancers	Brain Anterior Caudate	brain
15	chr13:67095000-67095400	Enhancers	Brain Hippocampus Middle	brain
16	chr13:67095000-67095400	Enhancers	Stomach Smooth Muscle	stomach
17	chr13:67095000-67095600	Enhancers	Brain Cingulate Gyrus	brain
18	chr13:67095400-67099200	Weak transcription	Brain Angular Gyrus	brain
19	chr13:67095400-67099200	Weak transcription	Brain Hippocampus Middle	brain
20	chr13:67095400-67099200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr13:67095600-67099000	Weak transcription	Brain Anterior Caudate	brain
22	chr13:67095600-67102600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr13:67095800-67102000	Weak transcription	Brain Substantia Nigra	brain
24	chr13:67096600-67097000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr13:67096800-67097000	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr13:67099000-67099600	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr13:67099000-67099600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr13:67099000-67099600	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr13:67099000-67099600	Enhancers	Brain Anterior Caudate	brain
30	chr13:67099200-67099400	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr13:67099200-67099600	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr13:67099200-67099600	Enhancers	Brain Hippocampus Middle	brain
33	chr13:67099200-67099600	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr13:67099200-67099800	Enhancers	Brain Angular Gyrus	brain
35	chr13:67099200-67100000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr13:67099400-67099800	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr13:67099400-67099800	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr13:67099400-67100000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr13:67099600-67102400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr13:67099600-67102400	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr13:67099600-67102400	Weak transcription	Brain Hippocampus Middle	brain
42	chr13:67099600-67103200	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr13:67099600-67103400	Weak transcription	Brain Anterior Caudate	brain
44	chr13:67099800-67100600	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr13:67099800-67102200	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr13:67099800-67102600	Weak transcription	Brain Angular Gyrus	brain
47	chr13:67100000-67100600	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr13:67100600-67101200	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr13:67100600-67102600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr13:67101200-67102400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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