Variant report

Variant	nsv542966
Chromosome Location	chr16:76958488-77121870
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:14)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:76887896..76888842-chr16:77076469..77077719,11	MCF-7	breast:
2	chr16:77092274..77095002-chr16:77096388..77098456,2	MCF-7	breast:
3	chr16:76972133..76974493-chr16:76974679..76976840,2	MCF-7	breast:
4	chr16:76699528..76700343-chr16:77076632..77077627,2	MCF-7	breast:
5	chr16:76886880..76887748-chr16:77077328..77078325,2	MCF-7	breast:
6	chr16:77044641..77046687-chr16:77049304..77051697,2	K562	blood:
7	chr16:77076688..77077729-chr16:77203577..77204202,3	MCF-7	breast:
8	chr16:76972133..76974493-chr16:76974679..76976840,2	MCF-7	breast:
9	chr16:77059610..77062396-chr16:77260233..77262257,2	K562	blood:
10	chr16:77044641..77046687-chr16:77049304..77051697,2	K562	blood:
11	chr16:77117943..77120097-chr16:77124904..77127006,2	MCF-7	breast:
12	chr16:77078662..77079429-chr16:77203303..77204211,3	MCF-7	breast:
13	chr16:76856883..76857419-chr16:77076804..77077643,2	MCF-7	breast:
14	chr16:77092274..77095002-chr16:77096388..77098456,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MON1B-2	chr16:77118307-77118365	NONHSAT143790
2	lnc-RP11-58C22.1.1-4	chr16:76961793-76962066	ENSG00000259995.1
3	lnc-ADAMTS18-2	chr16:77042061-77042204	XLOC_012014
4	lnc-ADAMTS18-2	chr16:77028205-77028433	XLOC_012014

No data

Variant related genes	Relation type
QARS	miRNA target sites
PYGO2	miRNA target sites

Extended variants
information (count: 3993 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:3993 , 50 per page) page: 1 2 3 4 5 6 7 ... 80

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371478085	chr16:76958489-76958490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs138487636	chr16:76958494-76958495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530107902	chr16:76958496-76958497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201590375	chr16:76958539-76958540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs76378847	chr16:76958551-76958552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs62046954	chr16:76958564-76958565	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs374627030	chr16:76958594-76958595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532802871	chr16:76958606-76958607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145450375	chr16:76958615-76958616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs28694809	chr16:76958619-76958620	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs367608037	chr16:76958657-76958658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35016682	chr16:76958668-76958669	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs538535475	chr16:76958672-76958673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185391713	chr16:76958687-76958688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372960092	chr16:76958689-76958690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562128350	chr16:76958690-76958691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73626685	chr16:76958691-76958692	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs553859863	chr16:76958734-76958735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs76057202	chr16:76958744-76958745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576624402	chr16:76958764-76958765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11641577	chr16:76958767-76958768	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs555948634	chr16:76958773-76958774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146718305	chr16:76958780-76958781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs34425408	chr16:76958818-76958819	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs561089884	chr16:76958844-76958845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs138058386	chr16:76958850-76958851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563856064	chr16:76958906-76958907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188977131	chr16:76958907-76958908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181396779	chr16:76958909-76958910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186505279	chr16:76958919-76958920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560610998	chr16:76958937-76958938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546194912	chr16:76958944-76958945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532665683	chr16:76959008-76959009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552760381	chr16:76959011-76959012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560985902	chr16:76959012-76959013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191408977	chr16:76959013-76959014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548899777	chr16:76959019-76959020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143513369	chr16:76959031-76959032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs377273782	chr16:76959059-76959060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368200948	chr16:76959066-76959067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs527327428	chr16:76959083-76959084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547079578	chr16:76959103-76959104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200031557	chr16:76959110-76959111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570171777	chr16:76959134-76959135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs79751792	chr16:76959168-76959169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535351121	chr16:76959178-76959179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569844821	chr16:76959184-76959185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75964145	chr16:76959203-76959204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555682030	chr16:76959207-76959208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148513706	chr16:76959216-76959217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
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	21509527	CNVD
Lung cancer	24585490	CNVD
Neuroblastoma	18923524	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20581869	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
early-passage human iPS cells	21368824	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:288 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:76957800-76965800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr16:76959400-76960200	Enhancers	Pancreas	Pancrea
3	chr16:76959400-76960800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr16:76959800-76960400	Enhancers	HepG2	liver
5	chr16:76959800-76960600	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr16:76959800-76960800	Enhancers	Fetal Intestine Large	intestine
7	chr16:76959800-76960800	Enhancers	Fetal Intestine Small	intestine
8	chr16:76959800-76961000	Enhancers	Liver	Liver
9	chr16:76960000-76960800	Enhancers	Psoas Muscle	Psoas
10	chr16:76960000-76961400	Enhancers	Brain Germinal Matrix	brain
11	chr16:76960200-76960800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr16:76960200-76961000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr16:76960200-76961000	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr16:76960400-76960800	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr16:76960400-76960800	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr16:76960400-76960800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr16:76960400-76961000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr16:76960400-76961000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr16:76960600-76961000	Enhancers	Fetal Brain Female	brain
20	chr16:76960600-76961400	Enhancers	Fetal Lung	lung
21	chr16:76960800-76966200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr16:76961000-76964600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr16:76964600-76966600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr16:76964800-76965000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr16:76964800-76965400	Enhancers	NHDF-Ad	bronchial
26	chr16:76965400-76965800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr16:76965400-76965800	Weak transcription	NHDF-Ad	bronchial
28	chr16:76965800-76966400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr16:76965800-76967200	Enhancers	NHDF-Ad	bronchial
30	chr16:76966000-76967200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr16:76966200-76966400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr16:76966200-76967400	Enhancers	Osteobl	bone
33	chr16:76966400-76966800	Active TSS	A549	lung
34	chr16:76966400-76967000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr16:76966400-76967000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr16:76966600-76967000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr16:76966800-76967200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr16:76967000-76967200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr16:76967000-76967200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr16:76967000-76967400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr16:76974000-76974400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr16:76976800-76979000	Enhancers	Brain Germinal Matrix	brain
43	chr16:76977000-76978000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr16:76977200-76977400	Enhancers	A549	lung
45	chr16:76977400-76978400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr16:76977400-76979800	Weak transcription	A549	lung
47	chr16:76977600-76978000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr16:76977800-76978200	Enhancers	Fetal Lung	lung
49	chr16:76978000-76978400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr16:76978000-76980800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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