Variant report

Variant	nsv1047112
Chromosome Location	chr13:67103902-67166419
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:67130453..67132993-chr13:67135238..67136917,2	K562	blood:
2	chr13:67124095..67126180-chr13:67127910..67129667,2	K562	blood:
3	chr13:67118715..67120725-chr13:67121848..67124669,2	K562	blood:
4	chr13:67118715..67120725-chr13:67121848..67124669,2	K562	blood:
5	chr13:67130437..67132993-chr13:67135417..67138774,3	K562	blood:
6	chr13:67124095..67126180-chr13:67127910..67129667,2	K562	blood:
7	chr13:67109100..67110769-chr13:67114510..67116820,2	K562	blood:
8	chr13:67157975..67159957-chr13:67162075..67164465,2	K562	blood:
9	chr13:67157975..67159957-chr13:67162075..67164465,2	K562	blood:
10	chr13:67130437..67132993-chr13:67135417..67138774,3	K562	blood:
11	chr13:67109100..67110769-chr13:67114510..67116820,2	K562	blood:
12	chr13:67130453..67132993-chr13:67135238..67136917,2	K562	blood:

No data

Extended variants
information (count: 1577 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:1577 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531970744	chr13:67103903-67103904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs549481563	chr13:67103906-67103907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527572070	chr13:67103967-67103968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566132561	chr13:67104012-67104013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547334316	chr13:67104015-67104016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs398023168	chr13:67104023-67104024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570073448	chr13:67104043-67104044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs77235497	chr13:67104075-67104076	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549581882	chr13:67104077-67104078	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs117790134	chr13:67104087-67104088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7489929	chr13:67104107-67104108	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535228699	chr13:67104114-67104115	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555985802	chr13:67104184-67104185	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566320022	chr13:67104217-67104218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187438582	chr13:67104243-67104244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558500252	chr13:67104330-67104331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577927529	chr13:67104350-67104351	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543823140	chr13:67104391-67104392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557106655	chr13:67104396-67104397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574064627	chr13:67104414-67104415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs114688065	chr13:67104425-67104426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561542507	chr13:67104441-67104442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527488151	chr13:67104491-67104492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540893206	chr13:67104521-67104522	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1932883	chr13:67104525-67104526	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs138820272	chr13:67104569-67104570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140349840	chr13:67104617-67104618	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150371312	chr13:67104624-67104625	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs138106918	chr13:67104636-67104637	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115504922	chr13:67104643-67104644	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558463906	chr13:67104671-67104672	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191482702	chr13:67104690-67104691	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537380082	chr13:67104696-67104697	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557316751	chr13:67104776-67104777	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374370549	chr13:67104831-67104832	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573996802	chr13:67104832-67104833	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538081038	chr13:67104862-67104863	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572337009	chr13:67105000-67105001	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs17081458	chr13:67105057-67105058	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs553065894	chr13:67105076-67105077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113292574	chr13:67105130-67105131	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566506837	chr13:67105135-67105136	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149341909	chr13:67105170-67105171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138585528	chr13:67105188-67105189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551884181	chr13:67105196-67105197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201531717	chr13:67105227-67105228	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs35177071	chr13:67105241-67105242	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs397702686	chr13:67105250-67105251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201447455	chr13:67105251-67105252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs199643765	chr13:67105252-67105253	Enhancers 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:189 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67102200-67105000	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr13:67102200-67105600	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr13:67102200-67105800	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr13:67102400-67104800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
5	chr13:67102400-67104800	Enhancers	H1 Cell Line	embryonic stem cell
6	chr13:67102400-67105600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr13:67102400-67105800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr13:67102600-67104600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr13:67102600-67106600	Weak transcription	HSMM	muscle
10	chr13:67102800-67104800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr13:67103000-67106600	Weak transcription	Osteobl	bone
12	chr13:67103200-67104400	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr13:67103200-67106200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr13:67103400-67104600	Weak transcription	Brain Substantia Nigra	brain
15	chr13:67103600-67104400	Weak transcription	Brain Angular Gyrus	brain
16	chr13:67103600-67105200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr13:67103800-67104200	Weak transcription	Brain Hippocampus Middle	brain
18	chr13:67103800-67104400	Enhancers	Fetal Kidney	kidney
19	chr13:67103800-67104800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr13:67104200-67105200	Enhancers	Brain Hippocampus Middle	brain
21	chr13:67104400-67104600	Enhancers	Brain Angular Gyrus	brain
22	chr13:67104400-67105600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr13:67104400-67114600	Weak transcription	Fetal Kidney	kidney
24	chr13:67104600-67104800	Weak transcription	Brain Angular Gyrus	brain
25	chr13:67104600-67105000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr13:67104600-67105200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr13:67104600-67106200	Enhancers	Brain Substantia Nigra	brain
28	chr13:67104800-67105200	Enhancers	Brain Cingulate Gyrus	brain
29	chr13:67105000-67106200	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr13:67105200-67105400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr13:67105200-67111000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr13:67105400-67106200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr13:67105800-67107000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr13:67106000-67107400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr13:67106200-67107000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr13:67106200-67107200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr13:67106200-67108400	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr13:67106600-67106800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr13:67106600-67107200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr13:67106600-67107200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr13:67106600-67107200	Enhancers	NH-A	brain
42	chr13:67106600-67107400	Enhancers	HSMM	muscle
43	chr13:67106600-67107400	Enhancers	Osteobl	bone
44	chr13:67106600-67107600	Enhancers	Muscle Satellite Cultured Cells	--
45	chr13:67106600-67109000	Enhancers	NHDF-Ad	bronchial
46	chr13:67107000-67107200	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr13:67107000-67107200	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr13:67107200-67108400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr13:67107200-67110800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr13:67107400-67107800	Weak transcription	Osteobl	bone

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