Variant report

Variant	nsv949197
Chromosome Location	chr16:80284557-80456403
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:53)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:53 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr16:80387925..80389611-chr16:80393256..80396237,2	MCF-7	breast:
2	chr16:80346494..80349912-chr16:80349943..80351879,3	MCF-7	breast:
3	chr16:80443585..80445085-chr3:63915478..63917736,2	MCF-7	breast:
4	chr10:79239960..79240960-chr16:80314989..80315547,2	MCF-7	breast:
5	chr16:80387925..80389611-chr16:80393256..80396237,2	MCF-7	breast:
6	chr16:80342529..80346218-chr16:80346467..80349314,3	MCF-7	breast:
7	chr16:80292827..80294990-chr16:80297157..80298888,2	K562	blood:
8	chr16:80351732..80352309-chr20:52188388..52189040,2	MCF-7	breast:
9	chr16:80313815..80316621-chr16:80321015..80323022,2	MCF-7	breast:
10	chr16:80351834..80354338-chr16:80364335..80365848,2	MCF-7	breast:
11	chr16:80455099..80456969-chr16:80460045..80462962,2	MCF-7	breast:
12	chr16:80342529..80346218-chr16:80346467..80349314,3	MCF-7	breast:
13	chr16:80374923..80375802-chr16:80560060..80560618,2	MCF-7	breast:
14	chr16:80305422..80307127-chr16:80308653..80310686,2	K562	blood:
15	chr16:80373054..80375893-chr16:80376366..80378130,2	K562	blood:
16	chr16:80427816..80429853-chr16:80431372..80434203,2	K562	blood:
17	chr16:80351834..80354338-chr16:80364335..80365848,2	MCF-7	breast:
18	chr16:80313815..80316621-chr16:80321015..80323022,2	MCF-7	breast:
19	chr16:80373054..80375893-chr16:80376366..80378130,2	K562	blood:
20	chr16:80334401..80335928-chr16:80343154..80345608,2	MCF-7	breast:
21	chr16:80422507..80424954-chr16:80425811..80427475,2	K562	blood:
22	chr16:80367065..80371561-chr16:80373594..80377229,4	K562	blood:
23	chr16:80351169..80352110-chr16:80403270..80403802,2	MCF-7	breast:
24	chr16:79295136..79296034-chr16:80352578..80353724,3	MCF-7	breast:
25	chr16:80377234..80379448-chr16:80383112..80384932,2	MCF-7	breast:
26	chr16:80355317..80357062-chr16:80358913..80360830,2	K562	blood:
27	chr16:80312419..80315004-chr16:80317152..80320675,4	MCF-7	breast:
28	chr16:80453914..80455778-chr16:80465927..80468447,2	MCF-7	breast:
29	chr16:79635942..79636526-chr16:80403665..80404343,2	K562	blood:
30	chr16:80116624..80119575-chr16:80356454..80358256,2	MCF-7	breast:
31	chr16:80348589..80350243-chr16:80374118..80376486,2	K562	blood:
32	chr16:80355317..80357062-chr16:80358913..80360830,2	K562	blood:
33	chr16:80348589..80350243-chr16:80374118..80376486,2	K562	blood:
34	chr16:80351169..80352110-chr16:80403270..80403802,2	MCF-7	breast:
35	chr16:80400278..80401795-chr16:80405835..80408436,2	MCF-7	breast:
36	chr16:80377234..80379448-chr16:80383112..80384932,2	MCF-7	breast:
37	chr16:80305422..80307127-chr16:80308653..80310686,2	K562	blood:
38	chr16:80292827..80294990-chr16:80297157..80298888,2	K562	blood:
39	chr16:80352039..80354003-chr16:80355342..80358091,2	MCF-7	breast:
40	chr16:80400278..80401795-chr16:80405835..80408436,2	MCF-7	breast:
41	chr16:80312419..80315004-chr16:80317152..80320675,4	MCF-7	breast:
42	chr16:80422507..80424954-chr16:80425811..80427475,2	K562	blood:
43	chr16:80427816..80429853-chr16:80431372..80434203,2	K562	blood:
44	chr16:80305510..80307730-chr16:80315261..80317218,2	MCF-7	breast:
45	chr16:80346494..80349912-chr16:80349943..80351879,3	MCF-7	breast:
46	chr16:80249230..80251381-chr16:80283916..80285738,2	MCF-7	breast:
47	chr16:80311039..80311733-chr16:80500002..80500951,2	K562	blood:
48	chr16:80305510..80307730-chr16:80315261..80317218,2	MCF-7	breast:
49	chr16:80334401..80335928-chr16:80343154..80345608,2	MCF-7	breast:
50	chr16:80352039..80354003-chr16:80355342..80358091,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DYNLRB2-5	chr16:80331572-80331684	ucscGeneNc_uc002fgs_2
2	lnc-DYNLRB2-5	chr16:80330180-80330542	ucscGeneNc_uc002fgs_2
3	lnc-DYNLRB2-5	chr16:80331366-80331485	ucscGeneNc_uc002fgs_2

No data

Extended variants
information (count: 8565 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:8565 , 50 per page) page: 1 2 3 4 5 6 7 ... 172

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11150253	chr16:80284557-80284558	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs557816901	chr16:80284566-80284567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs573042106	chr16:80284568-80284569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs533929978	chr16:80284572-80284573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555736993	chr16:80284576-80284577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189221154	chr16:80284581-80284582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138901821	chr16:80284590-80284591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs11641937	chr16:80284593-80284594	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs75474713	chr16:80284600-80284601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs4889125	chr16:80284607-80284608	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs149393522	chr16:80284608-80284609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs75528374	chr16:80284632-80284633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs118177733	chr16:80284648-80284649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs555773236	chr16:80284663-80284664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs561742517	chr16:80284677-80284678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs529534112	chr16:80284678-80284679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs551237462	chr16:80284680-80284681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs116697835	chr16:80284697-80284698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs143821357	chr16:80284708-80284709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs551605268	chr16:80284772-80284773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs138478720	chr16:80284804-80284805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534310430	chr16:80284832-80284833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs544679287	chr16:80284833-80284834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs555447517	chr16:80284853-80284854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573955467	chr16:80284863-80284864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537887528	chr16:80284866-80284867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs557283636	chr16:80284878-80284879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs561842285	chr16:80284920-80284921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs545970824	chr16:80284968-80284969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs114236012	chr16:80284971-80284972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs142806469	chr16:80284980-80284981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs146055444	chr16:80284989-80284990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs561660434	chr16:80284991-80284992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs528869467	chr16:80285003-80285004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184345073	chr16:80285021-80285022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs562839487	chr16:80285022-80285023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs73579610	chr16:80285042-80285043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs374993801	chr16:80285048-80285049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs578216802	chr16:80285059-80285060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs566739533	chr16:80285105-80285106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs140009868	chr16:80285114-80285115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs549440008	chr16:80285121-80285122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs567693543	chr16:80285129-80285130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs9926904	chr16:80285139-80285140	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs141476325	chr16:80285151-80285152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs9937454	chr16:80285170-80285171	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs11648923	chr16:80285240-80285241	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs557957491	chr16:80285253-80285254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs572974014	chr16:80285254-80285255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs34927855	chr16:80285261-80285262	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
small cell lung cancer	20016488	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Adrenocortical carcinoma	18281524	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:599 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80284400-80284800	Enhancers	HSMM	muscle
2	chr16:80284400-80286400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr16:80284400-80286800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr16:80284800-80285400	Enhancers	Ovary	ovary
5	chr16:80285400-80285800	Weak transcription	Ovary	ovary
6	chr16:80285800-80286600	Enhancers	Ovary	ovary
7	chr16:80292000-80292800	Enhancers	Fetal Intestine Large	intestine
8	chr16:80292200-80292400	Enhancers	Duodenum Mucosa	Duodenum
9	chr16:80292200-80293000	Enhancers	Stomach Mucosa	stomach
10	chr16:80292400-80292600	Enhancers	Fetal Intestine Small	intestine
11	chr16:80292400-80293000	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr16:80292400-80294400	Weak transcription	Duodenum Mucosa	Duodenum
13	chr16:80292600-80292800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr16:80292800-80293800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr16:80292800-80294600	Weak transcription	Fetal Intestine Large	intestine
16	chr16:80293000-80294200	Weak transcription	Fetal Intestine Small	intestine
17	chr16:80293000-80294400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr16:80293000-80296600	Weak transcription	Stomach Mucosa	stomach
19	chr16:80293000-80298800	Enhancers	HepG2	liver
20	chr16:80293200-80293600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr16:80293600-80295000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr16:80293800-80294400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr16:80293800-80295800	Enhancers	Rectal Mucosa Donor 29	rectum
24	chr16:80294000-80294200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr16:80294200-80297800	Enhancers	Fetal Intestine Small	intestine
26	chr16:80294400-80294800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr16:80294400-80295400	Enhancers	HUVEC	blood vessel
28	chr16:80294400-80295400	Enhancers	Osteobl	bone
29	chr16:80294400-80295600	Enhancers	Colonic Mucosa	Colon
30	chr16:80294400-80296200	Enhancers	Duodenum Mucosa	Duodenum
31	chr16:80294400-80297200	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr16:80294600-80295200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr16:80294600-80295400	Enhancers	Muscle Satellite Cultured Cells	--
34	chr16:80294600-80295800	Enhancers	Fetal Intestine Large	intestine
35	chr16:80294800-80295600	Enhancers	Adipose Nuclei	Adipose
36	chr16:80294800-80296000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr16:80295000-80295200	Enhancers	Aorta	Aorta
38	chr16:80295000-80295400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr16:80295000-80295400	Enhancers	Pancreas	Pancrea
40	chr16:80295000-80295800	Enhancers	Brain Germinal Matrix	brain
41	chr16:80295000-80296000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr16:80295200-80295600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr16:80295200-80299200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr16:80295400-80295800	Weak transcription	Aorta	Aorta
45	chr16:80295400-80298800	Weak transcription	Osteobl	bone
46	chr16:80295400-80302000	Weak transcription	Pancreas	Pancrea
47	chr16:80295400-80302400	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr16:80295800-80296400	Weak transcription	Fetal Intestine Large	intestine
49	chr16:80295800-80296800	Weak transcription	Brain Germinal Matrix	brain
50	chr16:80295800-80298400	Weak transcription	Rectal Mucosa Donor 29	rectum

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