Variant report

Variant	nsv573074
Chromosome Location	chr16:76918246-76972558
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:76972133..76974493-chr16:76974679..76976840,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-58C22.1.1-4	chr16:76961793-76962066	ENSG00000259995.1
2	lnc-RP11-58C22.1.1-4	chr16:76946252-76946305	ENSG00000259995.1

Extended variants
information (count: 1651 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:1651 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11149932	chr16:76918246-76918247	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs562595088	chr16:76918282-76918283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531698735	chr16:76918328-76918329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs528513659	chr16:76918353-76918354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548496614	chr16:76918357-76918358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181936648	chr16:76918364-76918365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186311125	chr16:76918402-76918403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs191002854	chr16:76918403-76918404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs34354046	chr16:76918408-76918409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs76184478	chr16:76918412-76918413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571184334	chr16:76918445-76918446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs373282553	chr16:76918517-76918518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs539393200	chr16:76918530-76918531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs548846682	chr16:76918539-76918540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549814246	chr16:76918638-76918639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs558898273	chr16:76918650-76918651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569759734	chr16:76918667-76918668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567356656	chr16:76918719-76918720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs74026957	chr16:76918725-76918726	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs568796918	chr16:76918739-76918740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs113686316	chr16:76918762-76918763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537609477	chr16:76918763-76918764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs540378270	chr16:76918770-76918771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs555248096	chr16:76918778-76918779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs551207853	chr16:76918806-76918807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs114541786	chr16:76918809-76918810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs111880062	chr16:76918820-76918821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs60705803	chr16:76918892-76918893	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs78768181	chr16:76918895-76918896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs181072189	chr16:76918898-76918899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs376877383	chr16:76918926-76918927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs76980040	chr16:76918973-76918974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs552833619	chr16:76918977-76918978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs375819119	chr16:76918986-76918987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs12598840	chr16:76918995-76918996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs74780981	chr16:76919053-76919054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs115547757	chr16:76919133-76919134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs562059962	chr16:76919157-76919158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs527858466	chr16:76919237-76919238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572782319	chr16:76919267-76919268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541268576	chr16:76919268-76919269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs535134120	chr16:76919269-76919270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs533711776	chr16:76919304-76919305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs549798282	chr16:76919309-76919310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs564857211	chr16:76919311-76919312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs569695070	chr16:76919353-76919354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs528965101	chr16:76919357-76919358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs150881879	chr16:76919396-76919397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs565657891	chr16:76919399-76919400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534765967	chr16:76919416-76919417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:76917000-76920800	Enhancers	Fetal Brain Male	brain
2	chr16:76917400-76919200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr16:76917400-76919200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr16:76917400-76919600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr16:76917600-76919400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr16:76918600-76920600	Enhancers	Brain Germinal Matrix	brain
7	chr16:76919200-76920200	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr16:76919200-76920200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr16:76919200-76920200	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr16:76919200-76921000	Enhancers	Fetal Brain Female	brain
11	chr16:76919400-76920200	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr16:76919400-76920400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr16:76919400-76920400	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr16:76919400-76920400	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr16:76919400-76921200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr16:76919600-76920200	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr16:76919600-76920400	Enhancers	H9 Cell Line	embryonic stem cell
18	chr16:76920200-76921200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr16:76921000-76921400	Weak transcription	Fetal Brain Female	brain
20	chr16:76921200-76921400	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr16:76921400-76921800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr16:76921400-76922200	Enhancers	Fetal Brain Female	brain
23	chr16:76921800-76922200	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr16:76922000-76922200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr16:76922000-76922200	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr16:76922000-76922200	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr16:76922000-76922400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr16:76922400-76923600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr16:76923600-76923800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr16:76930200-76933200	Weak transcription	Fetal Kidney	kidney
31	chr16:76931400-76932400	Enhancers	HMEC	breast
32	chr16:76931400-76935800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr16:76931600-76932400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr16:76932000-76932200	Enhancers	A549	lung
35	chr16:76932200-76933600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr16:76932200-76933600	Weak transcription	A549	lung
37	chr16:76932400-76932600	Enhancers	Pancreas	Pancrea
38	chr16:76932600-76940200	Weak transcription	Pancreas	Pancrea
39	chr16:76933200-76933600	Enhancers	Spleen	Spleen
40	chr16:76933200-76935400	Enhancers	Fetal Kidney	kidney
41	chr16:76933600-76934200	Enhancers	A549	lung
42	chr16:76933600-76936000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr16:76934200-76934600	Enhancers	Fetal Brain Male	brain
44	chr16:76934200-76934600	Flanking Active TSS	A549	lung
45	chr16:76934200-76935400	Enhancers	Liver	Liver
46	chr16:76934600-76935200	Enhancers	A549	lung
47	chr16:76935200-76939000	Weak transcription	A549	lung
48	chr16:76935400-76940400	Weak transcription	Fetal Kidney	kidney
49	chr16:76936000-76936200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr16:76936200-76936800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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