Variant report

Variant	nsv542986
Chromosome Location	chr16:80286004-80406177
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:44)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:44 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:80352039..80354003-chr16:80355342..80358091,2	MCF-7	breast:
2	chr16:80387925..80389611-chr16:80393256..80396237,2	MCF-7	breast:
3	chr16:80312419..80315004-chr16:80317152..80320675,4	MCF-7	breast:
4	chr16:80116624..80119575-chr16:80356454..80358256,2	MCF-7	breast:
5	chr16:80377234..80379448-chr16:80383112..80384932,2	MCF-7	breast:
6	chr16:80313815..80316621-chr16:80321015..80323022,2	MCF-7	breast:
7	chr16:79295136..79296034-chr16:80352578..80353724,3	MCF-7	breast:
8	chr16:80400278..80401795-chr16:80405835..80408436,2	MCF-7	breast:
9	chr16:80351834..80354338-chr16:80364335..80365848,2	MCF-7	breast:
10	chr16:80351169..80352110-chr16:80403270..80403802,2	MCF-7	breast:
11	chr16:79635942..79636526-chr16:80403665..80404343,2	K562	blood:
12	chr16:80373054..80375893-chr16:80376366..80378130,2	K562	blood:
13	chr16:80377234..80379448-chr16:80383112..80384932,2	MCF-7	breast:
14	chr16:80387925..80389611-chr16:80393256..80396237,2	MCF-7	breast:
15	chr16:80400278..80401795-chr16:80405835..80408436,2	MCF-7	breast:
16	chr16:80305422..80307127-chr16:80308653..80310686,2	K562	blood:
17	chr16:80348589..80350243-chr16:80374118..80376486,2	K562	blood:
18	chr16:80355317..80357062-chr16:80358913..80360830,2	K562	blood:
19	chr16:80311039..80311733-chr16:80500002..80500951,2	K562	blood:
20	chr16:80292827..80294990-chr16:80297157..80298888,2	K562	blood:
21	chr16:80374923..80375802-chr16:80560060..80560618,2	MCF-7	breast:
22	chr16:80334401..80335928-chr16:80343154..80345608,2	MCF-7	breast:
23	chr16:80342529..80346218-chr16:80346467..80349314,3	MCF-7	breast:
24	chr16:80348589..80350243-chr16:80374118..80376486,2	K562	blood:
25	chr16:80310620..80311639-chr16:80499983..80500837,3	MCF-7	breast:
26	chr16:80346494..80349912-chr16:80349943..80351879,3	MCF-7	breast:
27	chr16:80305510..80307730-chr16:80315261..80317218,2	MCF-7	breast:
28	chr10:79239960..79240960-chr16:80314989..80315547,2	MCF-7	breast:
29	chr16:80352039..80354003-chr16:80355342..80358091,2	MCF-7	breast:
30	chr16:80305422..80307127-chr16:80308653..80310686,2	K562	blood:
31	chr16:80346494..80349912-chr16:80349943..80351879,3	MCF-7	breast:
32	chr16:80355317..80357062-chr16:80358913..80360830,2	K562	blood:
33	chr16:80367065..80371561-chr16:80373594..80377229,4	K562	blood:
34	chr16:80305510..80307730-chr16:80315261..80317218,2	MCF-7	breast:
35	chr16:80334401..80335928-chr16:80343154..80345608,2	MCF-7	breast:
36	chr16:80292827..80294990-chr16:80297157..80298888,2	K562	blood:
37	chr16:80373054..80375893-chr16:80376366..80378130,2	K562	blood:
38	chr16:80351834..80354338-chr16:80364335..80365848,2	MCF-7	breast:
39	chr16:80367065..80371561-chr16:80373594..80377229,4	K562	blood:
40	chr16:80351732..80352309-chr20:52188388..52189040,2	MCF-7	breast:
41	chr16:80351169..80352110-chr16:80403270..80403802,2	MCF-7	breast:
42	chr16:80342529..80346218-chr16:80346467..80349314,3	MCF-7	breast:
43	chr16:80313815..80316621-chr16:80321015..80323022,2	MCF-7	breast:
44	chr16:80312419..80315004-chr16:80317152..80320675,4	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: 5938 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:5938 , 50 per page) page: 1 2 3 4 5 6 7 ... 119

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536111137	chr16:80286011-80286012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs537682776	chr16:80286025-80286026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs555830015	chr16:80286057-80286058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs377256683	chr16:80286063-80286064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560668490	chr16:80286074-80286075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs532818430	chr16:80286080-80286081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186339811	chr16:80286083-80286084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs116037715	chr16:80286122-80286123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs373359284	chr16:80286131-80286132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs191138589	chr16:80286179-80286180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs78783032	chr16:80286182-80286183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs555809852	chr16:80286183-80286184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs544072824	chr16:80286192-80286193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531204709	chr16:80286206-80286207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532659515	chr16:80286222-80286223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147568900	chr16:80286243-80286244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs79767390	chr16:80286250-80286251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs79844089	chr16:80286256-80286257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183030402	chr16:80286257-80286258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs117439466	chr16:80286286-80286287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs186736881	chr16:80286307-80286308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs191100488	chr16:80286309-80286310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs77136168	chr16:80286317-80286318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs537646091	chr16:80286320-80286321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs75994936	chr16:80286351-80286352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570969754	chr16:80286361-80286362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs141929359	chr16:80286367-80286368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs80243511	chr16:80286371-80286372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs142119691	chr16:80286372-80286373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs78619347	chr16:80286389-80286390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs79966344	chr16:80286409-80286410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576856825	chr16:80286410-80286411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs543989566	chr16:80286508-80286509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs373468311	chr16:80286514-80286515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs559204673	chr16:80286534-80286535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs577377873	chr16:80286589-80286590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs541189244	chr16:80286591-80286592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs559826241	chr16:80286592-80286593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs151157665	chr16:80286611-80286612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs553638433	chr16:80286617-80286618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs77689212	chr16:80286659-80286660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs560802888	chr16:80286674-80286675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs549774986	chr16:80286675-80286676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs140576511	chr16:80286738-80286739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs542502296	chr16:80286746-80286747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs150453850	chr16:80286747-80286748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532201322	chr16:80286764-80286765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs115094974	chr16:80286771-80286772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs183282740	chr16:80286790-80286791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs562961151	chr16:80292040-80292041	Enhancers	n/a	n/a	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
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:486 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80284400-80286400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr16:80284400-80286800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr16:80285800-80286600	Enhancers	Ovary	ovary
4	chr16:80292000-80292800	Enhancers	Fetal Intestine Large	intestine
5	chr16:80292200-80292400	Enhancers	Duodenum Mucosa	Duodenum
6	chr16:80292200-80293000	Enhancers	Stomach Mucosa	stomach
7	chr16:80292400-80292600	Enhancers	Fetal Intestine Small	intestine
8	chr16:80292400-80293000	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr16:80292400-80294400	Weak transcription	Duodenum Mucosa	Duodenum
10	chr16:80292600-80292800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr16:80292800-80293800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr16:80292800-80294600	Weak transcription	Fetal Intestine Large	intestine
13	chr16:80293000-80294200	Weak transcription	Fetal Intestine Small	intestine
14	chr16:80293000-80294400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr16:80293000-80296600	Weak transcription	Stomach Mucosa	stomach
16	chr16:80293000-80298800	Enhancers	HepG2	liver
17	chr16:80293200-80293600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr16:80293600-80295000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr16:80293800-80294400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr16:80293800-80295800	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr16:80294000-80294200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr16:80294200-80297800	Enhancers	Fetal Intestine Small	intestine
23	chr16:80294400-80294800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr16:80294400-80295400	Enhancers	HUVEC	blood vessel
25	chr16:80294400-80295400	Enhancers	Osteobl	bone
26	chr16:80294400-80295600	Enhancers	Colonic Mucosa	Colon
27	chr16:80294400-80296200	Enhancers	Duodenum Mucosa	Duodenum
28	chr16:80294400-80297200	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr16:80294600-80295200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr16:80294600-80295400	Enhancers	Muscle Satellite Cultured Cells	--
31	chr16:80294600-80295800	Enhancers	Fetal Intestine Large	intestine
32	chr16:80294800-80295600	Enhancers	Adipose Nuclei	Adipose
33	chr16:80294800-80296000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr16:80295000-80295200	Enhancers	Aorta	Aorta
35	chr16:80295000-80295400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr16:80295000-80295400	Enhancers	Pancreas	Pancrea
37	chr16:80295000-80295800	Enhancers	Brain Germinal Matrix	brain
38	chr16:80295000-80296000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr16:80295200-80295600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr16:80295200-80299200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr16:80295400-80295800	Weak transcription	Aorta	Aorta
42	chr16:80295400-80298800	Weak transcription	Osteobl	bone
43	chr16:80295400-80302000	Weak transcription	Pancreas	Pancrea
44	chr16:80295400-80302400	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr16:80295800-80296400	Weak transcription	Fetal Intestine Large	intestine
46	chr16:80295800-80296800	Weak transcription	Brain Germinal Matrix	brain
47	chr16:80295800-80298400	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr16:80296000-80297000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr16:80296200-80296600	Weak transcription	Duodenum Mucosa	Duodenum
50	chr16:80296400-80297000	Enhancers	Fetal Intestine Large	intestine

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