Variant report

Variant	nsv907002
Chromosome Location	chr16:80441420-80510943
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:38)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr16:80455099..80456969-chr16:80460045..80462962,2	MCF-7	breast:
2	chr16:79635755..79636630-chr16:80499976..80500798,3	MCF-7	breast:
3	chr16:78537073..78538321-chr16:80500168..80500870,3	MCF-7	breast:
4	chr16:80453914..80455778-chr16:80465927..80468447,2	MCF-7	breast:
5	chr16:80495879..80497942-chr16:80499156..80500860,2	MCF-7	breast:
6	chr16:80477484..80480232-chr16:80487404..80489866,2	K562	blood:
7	chr16:80476917..80477759-chr16:80499915..80500481,2	MCF-7	breast:
8	chr16:80456261..80457828-chr16:80462045..80464017,2	K562	blood:
9	chr16:78958645..78959367-chr16:80500008..80500879,3	MCF-7	breast:
10	chr16:80455099..80456969-chr16:80460045..80462962,2	MCF-7	breast:
11	chr16:80496269..80498970-chr16:80500227..80504531,3	K562	blood:
12	chr16:80477484..80480232-chr16:80487404..80489866,2	K562	blood:
13	chr16:80310620..80311639-chr16:80499983..80500837,3	MCF-7	breast:
14	chr16:80118484..80119338-chr16:80499839..80500773,2	MCF-7	breast:
15	chr16:80477232..80480135-chr16:80480293..80481825,2	MCF-7	breast:
16	chr16:80499995..80500569-chr16:80982485..80983045,2	MCF-7	breast:
17	chr16:80464231..80466883-chr16:80470014..80471728,2	K562	blood:
18	chr16:80443585..80445085-chr3:63915478..63917736,2	MCF-7	breast:
19	chr16:80508458..80510369-chr16:80517699..80519850,2	MCF-7	breast:
20	chr16:80453914..80455778-chr16:80465927..80468447,2	MCF-7	breast:
21	chr16:80469396..80471000-chr16:80474458..80476737,2	MCF-7	breast:
22	chr16:80495879..80497942-chr16:80499156..80500860,2	MCF-7	breast:
23	chr16:79801259..79803185-chr16:80498981..80501432,2	MCF-7	breast:
24	chr16:80467020..80469434-chr16:80558552..80560756,2	K562	blood:
25	chr16:80496269..80498970-chr16:80500227..80504531,3	K562	blood:
26	chr16:80496396..80498221-chr16:80498278..80499939,2	MCF-7	breast:
27	chr16:80477232..80480135-chr16:80480293..80481825,2	MCF-7	breast:
28	chr16:80496396..80498221-chr16:80498278..80499939,2	MCF-7	breast:
29	chr16:80485440..80487678-chr16:80510230..80512857,2	MCF-7	breast:
30	chr16:80214585..80217507-chr16:80501983..80504669,2	K562	blood:
31	chr16:80030961..80031815-chr16:80499963..80500752,4	MCF-7	breast:
32	chr16:80476917..80477759-chr16:80499915..80500481,2	MCF-7	breast:
33	chr16:80496333..80498714-chr16:80516089..80518670,2	K562	blood:
34	chr16:80485440..80487678-chr16:80510230..80512857,2	MCF-7	breast:
35	chr16:80456261..80457828-chr16:80462045..80464017,2	K562	blood:
36	chr16:80311039..80311733-chr16:80500002..80500951,2	K562	blood:
37	chr16:80469396..80471000-chr16:80474458..80476737,2	MCF-7	breast:
38	chr16:80464231..80466883-chr16:80470014..80471728,2	K562	blood:

No data

Extended variants
information (count: 2948 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:2948 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12920118	chr16:80441420-80441421	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs182107628	chr16:80441421-80441422	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs555096370	chr16:80441440-80441441	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs573498458	chr16:80441452-80441453	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs9806791	chr16:80441466-80441467	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs189144802	chr16:80441501-80441502	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs562420404	chr16:80441505-80441506	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs532963869	chr16:80441506-80441507	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs544643807	chr16:80441540-80441541	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs560776505	chr16:80441543-80441544	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs73588705	chr16:80441581-80441582	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs549692927	chr16:80441616-80441617	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs567898035	chr16:80441623-80441624	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs531795489	chr16:80441672-80441673	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs193031703	chr16:80441681-80441682	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs145725242	chr16:80441746-80441747	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs35654623	chr16:80441761-80441762	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs541211534	chr16:80441806-80441807	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs539042382	chr16:80441810-80441811	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs372553891	chr16:80441859-80441860	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs547350252	chr16:80441860-80441861	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs541356039	chr16:80441862-80441863	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs566433134	chr16:80441865-80441866	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs77504859	chr16:80441880-80441881	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs185624828	chr16:80441903-80441904	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs140496642	chr16:80441935-80441936	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs530021553	chr16:80441948-80441949	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs77513572	chr16:80441949-80441950	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs577624591	chr16:80441969-80441970	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs543276829	chr16:80441980-80441981	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs562976234	chr16:80441993-80441994	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs190094219	chr16:80442041-80442042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs78837579	chr16:80442051-80442052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs145619267	chr16:80442076-80442077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs76572546	chr16:80442078-80442079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs561541815	chr16:80442082-80442083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs551900182	chr16:80442093-80442094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs543412333	chr16:80442095-80442096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs531956183	chr16:80442113-80442114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs550074932	chr16:80442114-80442115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs565391199	chr16:80442161-80442162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs532456863	chr16:80442175-80442176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs78047517	chr16:80442177-80442178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs192078280	chr16:80442178-80442179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs9935300	chr16:80442198-80442199	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs536231233	chr16:80442214-80442215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs548886347	chr16:80442219-80442220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs567413269	chr16:80442260-80442261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs548997972	chr16:80442264-80442265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs556037635	chr16:80442275-80442276	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-small cell lung cancer	21829676	CNVD

Chromatin state (count:224 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80437400-80442800	Enhancers	Fetal Kidney	kidney
2	chr16:80440600-80442000	Flanking Active TSS	HepG2	liver
3	chr16:80440800-80441800	Enhancers	Fetal Intestine Small	intestine
4	chr16:80440800-80441800	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr16:80441200-80443000	Enhancers	Liver	Liver
6	chr16:80441800-80442000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr16:80442000-80444200	Enhancers	HepG2	liver
8	chr16:80444200-80447800	Weak transcription	HepG2	liver
9	chr16:80447800-80448600	Enhancers	HepG2	liver
10	chr16:80448600-80449000	Weak transcription	HepG2	liver
11	chr16:80449000-80449200	Enhancers	HepG2	liver
12	chr16:80449200-80451600	Weak transcription	HepG2	liver
13	chr16:80451600-80451800	Enhancers	HepG2	liver
14	chr16:80451800-80452200	Weak transcription	HepG2	liver
15	chr16:80452200-80453400	Enhancers	HepG2	liver
16	chr16:80453400-80459400	Weak transcription	HepG2	liver
17	chr16:80455800-80456200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr16:80455800-80456200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr16:80457000-80457200	Enhancers	Fetal Brain Female	brain
20	chr16:80457600-80460600	Weak transcription	Fetal Brain Female	brain
21	chr16:80459400-80460800	Enhancers	HepG2	liver
22	chr16:80460400-80461000	Enhancers	Fetal Kidney	kidney
23	chr16:80460600-80462800	Enhancers	Fetal Brain Male	brain
24	chr16:80460600-80462800	Enhancers	Fetal Brain Female	brain
25	chr16:80461000-80464600	Weak transcription	Fetal Kidney	kidney
26	chr16:80467000-80468400	Enhancers	HMEC	breast
27	chr16:80467200-80468400	Enhancers	NHEK	skin
28	chr16:80467400-80468200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr16:80467400-80468200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr16:80467400-80468200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr16:80467400-80468200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr16:80467400-80468400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr16:80468200-80471000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr16:80470400-80470600	Weak transcription	Fetal Kidney	kidney
35	chr16:80470600-80470800	Enhancers	Fetal Kidney	kidney
36	chr16:80470800-80476400	Weak transcription	Fetal Kidney	kidney
37	chr16:80471000-80471400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr16:80471400-80471600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr16:80474200-80474400	Enhancers	Liver	Liver
40	chr16:80474200-80474800	Enhancers	Duodenum Mucosa	Duodenum
41	chr16:80474400-80474800	Flanking Active TSS	Liver	Liver
42	chr16:80474600-80475000	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr16:80474800-80475000	Active TSS	Liver	Liver
44	chr16:80475800-80476400	Enhancers	Fetal Intestine Small	intestine
45	chr16:80476200-80478200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr16:80476400-80477000	Enhancers	Fetal Kidney	kidney
47	chr16:80476600-80477000	Enhancers	Fetal Lung	lung
48	chr16:80477000-80481200	Weak transcription	Fetal Lung	lung
49	chr16:80478200-80481200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr16:80481200-80481800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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