Variant report

Variant	nsv1066506
Chromosome Location	chr16:75798379-75853388
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:36)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:75548462..75551624-chr16:75797623..75799279,3	MCF-7	breast:
2	chr16:75822777..75823699-chr16:77203448..77204260,4	K562	blood:
3	chr16:75825897..75828062-chr16:75832678..75835382,2	K562	blood:
4	chr16:75505378..75506356-chr16:75797770..75798866,7	K562	blood:
5	chr16:75827564..75829518-chr16:75833625..75835572,2	K562	blood:
6	chr16:75792670..75795394-chr16:75798183..75799774,2	K562	blood:
7	chr16:75823072..75823718-chr16:77205249..77205759,2	MCF-7	breast:
8	chr16:75679846..75683127-chr16:75798608..75803101,6	MCF-7	breast:
9	chr16:75505406..75506311-chr16:75797784..75798667,3	MCF-7	breast:
10	chr16:75835360..75835894-chr16:77203310..77204256,2	K562	blood:
11	chr16:75678229..75679256-chr16:75797523..75798736,4	MCF-7	breast:
12	chr16:75554986..75555868-chr16:75797911..75798528,2	MCF-7	breast:
13	chr16:75797648..75798553-chr16:75822769..75823511,2	K562	blood:
14	chr16:75681480..75683045-chr16:75805607..75807616,2	MCF-7	breast:
15	chr16:75849049..75850691-chr16:75853844..75855427,2	K562	blood:
16	chr16:75834944..75835823-chr16:76687371..76688062,3	MCF-7	breast:
17	chr16:75804997..75806939-chr16:75808097..75810958,2	MCF-7	breast:
18	chr16:75816118..75817853-chr16:75821848..75823892,2	K562	blood:
19	chr16:75808851..75811070-chr16:75815014..75816739,3	K562	blood:
20	chr16:75655058..75655700-chr16:75797862..75798540,3	MCF-7	breast:
21	chr16:75808851..75811070-chr16:75815014..75816739,3	K562	blood:
22	chr16:75681100..75682037-chr16:75797910..75798444,2	MCF-7	breast:
23	chr16:75797648..75798553-chr16:75822769..75823511,2	K562	blood:
24	chr12:83232613..83233339-chr16:75834473..75835318,2	MCF-7	breast:
25	chr16:75804997..75806939-chr16:75808097..75810958,2	MCF-7	breast:
26	chr16:75827564..75829518-chr16:75833625..75835572,2	K562	blood:
27	chr16:75822932..75823933-chr16:77203258..77204234,7	MCF-7	breast:
28	chr16:75825897..75828062-chr16:75832678..75835382,2	K562	blood:
29	chr16:75680781..75683270-chr16:75814106..75816536,2	MCF-7	breast:
30	chr16:75835108..75835786-chr16:76687075..76687822,2	MCF-7	breast:
31	chr16:75686643..75688597-chr16:75796082..75798583,2	MCF-7	breast:
32	chr16:75678298..75679777-chr16:75797733..75798745,12	MCF-7	breast:
33	chr16:75670787..75671546-chr16:75798265..75799006,2	MCF-7	breast:
34	chr16:75822791..75823761-chr16:77205366..77206287,6	MCF-7	breast:
35	chr16:75729621..75730494-chr16:75797798..75798445,2	MCF-7	breast:
36	chr16:75816118..75817853-chr16:75821848..75823892,2	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TERF2IP-3	chr16:75803673-75803767	ucscGeneNc_uc002ffb_2
2	lnc-TERF2IP-3	chr16:75804255-75804400	ucscGeneNc_uc002ffb_2
3	lnc-AC025287.1-4	chr16:75810152-75810376	NONHSAT143765
4	lnc-TERF2IP-2	chr16:75800386-75801070	NONHSAT143763
5	lnc-TERF2IP-3	chr16:75803972-75804044	ucscGeneNc_uc002ffb_2
6	lnc-TERF2IP-4	chr16:75804710-75805264	NONHSAT143764

No data

Variant related genes	Relation type
ENSG00000262583	chromatin interactions
ENSG00000166848	chromatin interactions
ENSG00000065427	chromatin interactions

Extended variants
information (count: 1749 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:1749 , 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	rs16943291	chr16:75798379-75798380	Inactive region	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs146609466	chr16:75798392-75798393	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs536301294	chr16:75798406-75798407	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs560582122	chr16:75798438-75798439	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs376212937	chr16:75798445-75798446	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs368201171	chr16:75798464-75798465	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs79043787	chr16:75798470-75798471	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs569918385	chr16:75798481-75798482	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs537206605	chr16:75798493-75798494	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs148848067	chr16:75798497-75798498	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs372419186	chr16:75798511-75798512	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs574150499	chr16:75798526-75798527	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs114852133	chr16:75798555-75798556	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs182947803	chr16:75798602-75798603	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs187857876	chr16:75798610-75798611	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs142578460	chr16:75798628-75798629	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs115579321	chr16:75798634-75798635	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs540258156	chr16:75798649-75798650	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs560096755	chr16:75798650-75798651	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs532652455	chr16:75798710-75798711	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs552345041	chr16:75798711-75798712	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs571431536	chr16:75798719-75798720	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs530659715	chr16:75798734-75798735	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs114135690	chr16:75798742-75798743	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs567595636	chr16:75798802-75798803	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs190142498	chr16:75798834-75798835	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs35739226	chr16:75798835-75798836	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs150927478	chr16:75798843-75798844	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs566448486	chr16:75798889-75798890	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs538729061	chr16:75798904-75798905	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs563029229	chr16:75798919-75798920	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs140671770	chr16:75798923-75798924	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs575287052	chr16:75798929-75798930	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs182724419	chr16:75798956-75798957	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs145792177	chr16:75798961-75798962	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs574825571	chr16:75798969-75798970	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs540487341	chr16:75798985-75798986	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs34103608	chr16:75799086-75799087	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs138883067	chr16:75799106-75799107	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs8051378	chr16:75799118-75799119	Inactive region	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs117654902	chr16:75799128-75799129	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs35214803	chr16:75799129-75799130	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs562889010	chr16:75799156-75799157	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs531811595	chr16:75799189-75799190	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs527307480	chr16:75799200-75799201	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs550829436	chr16:75799266-75799267	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs561031892	chr16:75799281-75799282	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs187533338	chr16:75799314-75799315	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs66599911	chr16:75799317-75799318	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs546870487	chr16:75799340-75799341	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Poland''s syndrome	22110015	CNVD
Neuroblastoma	21899760	CNVD
Liver carcinoma	19366792	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	19156837	CNVD
Acute myeloid leukemia	17377590	CNVD
Breast cancer	20409316	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75806000-75806200	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr16:75807800-75808000	Enhancers	GM12878-XiMat	blood
3	chr16:75808000-75808600	Flanking Active TSS	GM12878-XiMat	blood
4	chr16:75808600-75809600	Enhancers	GM12878-XiMat	blood
5	chr16:75809000-75809400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr16:75809000-75809600	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr16:75814200-75814800	Enhancers	K562	blood
8	chr16:75821200-75821800	Enhancers	GM12878-XiMat	blood
9	chr16:75823000-75823800	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr16:75823200-75823800	Enhancers	Brain Hippocampus Middle	brain
11	chr16:75823400-75823800	Enhancers	Brain Germinal Matrix	brain
12	chr16:75823600-75823800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr16:75823800-75827000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr16:75827000-75827200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr16:75828200-75829000	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr16:75828600-75829000	Enhancers	GM12878-XiMat	blood
17	chr16:75829000-75832600	Weak transcription	GM12878-XiMat	blood
18	chr16:75832600-75833400	Enhancers	GM12878-XiMat	blood
19	chr16:75835000-75835200	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr16:75835000-75835800	Enhancers	Brain Hippocampus Middle	brain
21	chr16:75835400-75835800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr16:75835800-75838000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr16:75838000-75839000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr16:75839000-75843600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr16:75840400-75840600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr16:75840800-75841200	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr16:75843600-75845200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr16:75844000-75845000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr16:75844200-75844600	Enhancers	Adipose Nuclei	Adipose
30	chr16:75844400-75845000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr16:75845000-75845400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr16:75845000-75852200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr16:75845200-75845600	Enhancers	Brain Substantia Nigra	brain
34	chr16:75845400-75846000	Enhancers	Brain Hippocampus Middle	brain
35	chr16:75848400-75849000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr16:75850000-75851000	Enhancers	Stomach Mucosa	stomach
37	chr16:75851600-75855200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr16:75852200-75853800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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