Variant report

Variant	nsv573295
Chromosome Location	chr16:80251265-80341115
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:18)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:80305422..80307127-chr16:80308653..80310686,2	K562	blood:
2	chr16:80305510..80307730-chr16:80315261..80317218,2	MCF-7	breast:
3	chr16:80313815..80316621-chr16:80321015..80323022,2	MCF-7	breast:
4	chr16:80334401..80335928-chr16:80343154..80345608,2	MCF-7	breast:
5	chr16:80249230..80251381-chr16:80283916..80285738,2	MCF-7	breast:
6	chr16:80305422..80307127-chr16:80308653..80310686,2	K562	blood:
7	chr10:79239960..79240960-chr16:80314989..80315547,2	MCF-7	breast:
8	chr16:80305510..80307730-chr16:80315261..80317218,2	MCF-7	breast:
9	chr16:80311039..80311733-chr16:80500002..80500951,2	K562	blood:
10	chr16:80313815..80316621-chr16:80321015..80323022,2	MCF-7	breast:
11	chr16:80292827..80294990-chr16:80297157..80298888,2	K562	blood:
12	chr16:80292827..80294990-chr16:80297157..80298888,2	K562	blood:
13	chr16:80310620..80311639-chr16:80499983..80500837,3	MCF-7	breast:
14	chr16:80312419..80315004-chr16:80317152..80320675,4	MCF-7	breast:
15	chr16:80264628..80267560-chr16:80268812..80271604,2	K562	blood:
16	chr16:80264628..80267560-chr16:80268812..80271604,2	K562	blood:
17	chr16:80249230..80251381-chr16:80283916..80285738,2	MCF-7	breast:
18	chr16:80312419..80315004-chr16:80317152..80320675,4	MCF-7	breast:

(count:5 , 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	chr16:80331366-80331485	ucscGeneNc_uc002fgs_2
3	lnc-CDYL2-6	chr16:80252706-80252763	ENSG00000259867.1
4	lnc-DYNLRB2-5	chr16:80330180-80330542	ucscGeneNc_uc002fgs_2
5	lnc-CDYL2-6	chr16:80251932-80252112	ENSG00000259867.1

No data

Extended variants
information (count: 4291 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:4291 , 50 per page) page: 1 2 3 4 5 6 7 ... 86

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10514490	chr16:80251265-80251266	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs544082125	chr16:80251308-80251309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562486821	chr16:80251326-80251327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs75243159	chr16:80251335-80251336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374779222	chr16:80251341-80251342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113912775	chr16:80251346-80251347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545196889	chr16:80251376-80251377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs559943855	chr16:80251383-80251384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551182651	chr16:80251403-80251404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs151159566	chr16:80251446-80251447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548964040	chr16:80251451-80251452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs8060494	chr16:80251471-80251472	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs531360997	chr16:80251488-80251489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550486472	chr16:80251497-80251498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182536516	chr16:80251521-80251522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186864357	chr16:80251532-80251533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs8054232	chr16:80251553-80251554	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs566007592	chr16:80251573-80251574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192681099	chr16:80251622-80251623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549528935	chr16:80251623-80251624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554674423	chr16:80251668-80251669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576028183	chr16:80251684-80251685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563267839	chr16:80251692-80251693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183029256	chr16:80251702-80251703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187524947	chr16:80251708-80251709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs114172205	chr16:80251718-80251719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73577664	chr16:80251725-80251726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375143697	chr16:80251733-80251734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572181014	chr16:80251734-80251735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs193287149	chr16:80251744-80251745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs11644348	chr16:80251756-80251757	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs140667104	chr16:80251761-80251762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550252297	chr16:80251770-80251771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184771011	chr16:80251787-80251788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549806451	chr16:80251788-80251789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565412827	chr16:80251798-80251799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566600807	chr16:80251807-80251808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532857577	chr16:80251819-80251820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs72811530	chr16:80251838-80251839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11644390	chr16:80251840-80251841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145795126	chr16:80251842-80251843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs115922605	chr16:80251869-80251870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189148437	chr16:80251877-80251878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535631469	chr16:80251885-80251886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs76805928	chr16:80251901-80251902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs13334536	chr16:80251910-80251911	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs11865813	chr16:80251926-80251927	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs558930623	chr16:80251927-80251928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577825325	chr16:80251966-80251967	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs538908303	chr16:80251968-80251969	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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

Chromatin state (count:393 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80242600-80260200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr16:80260200-80260400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr16:80260200-80260600	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr16:80260400-80261000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr16:80261000-80264800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr16:80263200-80263800	Enhancers	Ovary	ovary
7	chr16:80263600-80264000	Enhancers	Fetal Stomach	stomach
8	chr16:80263800-80264600	Weak transcription	Ovary	ovary
9	chr16:80263800-80265600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr16:80263800-80266800	Enhancers	Osteobl	bone
11	chr16:80263800-80267800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr16:80264000-80265200	Weak transcription	Fetal Stomach	stomach
13	chr16:80264000-80266800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr16:80264200-80266600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr16:80264200-80266800	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr16:80264200-80268400	Enhancers	Fetal Lung	lung
17	chr16:80264400-80266200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr16:80264600-80266600	Enhancers	HMEC	breast
19	chr16:80264600-80267800	Enhancers	Ovary	ovary
20	chr16:80264800-80266200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr16:80264800-80266600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr16:80264800-80266600	Enhancers	NHEK	skin
23	chr16:80265000-80265600	Active TSS	Fetal Brain Male	brain
24	chr16:80265000-80265800	Enhancers	Colon Smooth Muscle	Colon
25	chr16:80265000-80266200	Enhancers	HSMM	muscle
26	chr16:80265000-80266400	Enhancers	NHLF	lung
27	chr16:80265000-80266600	Enhancers	Muscle Satellite Cultured Cells	--
28	chr16:80265000-80266600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr16:80265000-80266600	Enhancers	NHDF-Ad	bronchial
30	chr16:80265000-80267200	Enhancers	Primary B cells from peripheral blood	blood
31	chr16:80265200-80266000	Enhancers	Stomach Smooth Muscle	stomach
32	chr16:80265200-80266000	Enhancers	GM12878-XiMat	blood
33	chr16:80265200-80266600	Enhancers	NH-A	brain
34	chr16:80265200-80267800	Enhancers	Fetal Stomach	stomach
35	chr16:80265200-80267800	Enhancers	HepG2	liver
36	chr16:80265400-80265800	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr16:80265400-80266000	Enhancers	Esophagus	oesophagus
38	chr16:80265400-80266000	Enhancers	Pancreas	Pancrea
39	chr16:80265400-80266200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr16:80265400-80266400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr16:80265400-80266800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr16:80265400-80267800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr16:80265600-80266000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr16:80266000-80266200	Enhancers	Fetal Kidney	kidney
45	chr16:80266000-80266400	Weak transcription	GM12878-XiMat	blood
46	chr16:80266000-80267200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr16:80266200-80266800	Weak transcription	Fetal Kidney	kidney
48	chr16:80266400-80266800	Enhancers	GM12878-XiMat	blood
49	chr16:80266400-80267000	Weak transcription	NHLF	lung
50	chr16:80266600-80267800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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