Variant report

Variant	nsv525489
Chromosome Location	chr16:65286870-65339894
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:1)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:65284590..65286307-chr16:65286570..65288207,2	MCF-7	breast:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDH11-3	chr16:65318402-65319342	ENSG00000250685
2	lnc-CDH11-3	chr16:65318854-65319342	XLOC_011977
3	lnc-CDH11-3	chr16:65318402-65319342	XLOC_011977
4	lnc-CDH11-3	chr16:65318927-65319342	ENSG00000261742.1
5	lnc-CDH11-2	chr16:65309694-65309808	NONHSAT142974
6	lnc-CDH11-2	chr16:65310215-65310258	NONHSAT142974
7	lnc-CDH11-3	chr16:65319100-65319342	XLOC_011977
8	lnc-CDH11-3	chr16:65318927-65319342	ENSG00000250685
9	lnc-CDH11-3	chr16:65318402-65319342	XLOC_011977

No data

Variant related genes	Relation type
EZH2	miRNA target sites
TUB	miRNA target sites
SOAT1	miRNA target sites

Extended variants
information (count: 1647 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:1647 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7194801	chr16:65286870-65286871	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs543393237	chr16:65287013-65287014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35514197	chr16:65287132-65287133	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs528342404	chr16:65287178-65287179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542031491	chr16:65287225-65287226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs76117821	chr16:65287273-65287274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530604915	chr16:65287281-65287282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs137994611	chr16:65287301-65287302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187770933	chr16:65287324-65287325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532380463	chr16:65287360-65287361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370149267	chr16:65287369-65287370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192500911	chr16:65287387-65287388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12923125	chr16:65287388-65287389	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs530569138	chr16:65287427-65287428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555226089	chr16:65287493-65287494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs568599440	chr16:65287494-65287495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs537637115	chr16:65287509-65287510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs376906089	chr16:65287527-65287528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs546061742	chr16:65287559-65287560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576974785	chr16:65287582-65287583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539458859	chr16:65287587-65287588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs117582481	chr16:65287782-65287783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573316990	chr16:65287823-65287824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs78652776	chr16:65287913-65287914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551983323	chr16:65287914-65287915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541793560	chr16:65287977-65287978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562007547	chr16:65287990-65287991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575143334	chr16:65288003-65288004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543956391	chr16:65288020-65288021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563457233	chr16:65288126-65288127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532441540	chr16:65288129-65288130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs142541264	chr16:65288134-65288135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552617907	chr16:65288153-65288154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560817814	chr16:65288211-65288212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149449075	chr16:65288272-65288273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528476423	chr16:65288306-65288307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554487572	chr16:65288329-65288330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143865516	chr16:65288410-65288411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529849182	chr16:65288441-65288442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549916850	chr16:65288457-65288458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568720121	chr16:65288492-65288493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs138542737	chr16:65288498-65288499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs143060057	chr16:65288541-65288542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184844199	chr16:65288549-65288550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539571759	chr16:65288554-65288555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553018445	chr16:65288576-65288577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs77349226	chr16:65288591-65288592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs146155400	chr16:65288626-65288627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555378189	chr16:65288640-65288641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188379270	chr16:65288680-65288681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	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
Esophageal squamous carcinoma	18350619	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	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
Bladder cancer	21909424	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21806811	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	22286061	CNVD
Autism	18414403	CNVD
Breast cancer	20409316	CNVD
Chordoma	18071362	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
Ovarian cancer	21720365	CNVD
Leiomyosarcoma	16982739	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Mental retardation	21062444	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Infiltrating lobular breast cancer	19191266	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian cancer	21781307	CNVD

Chromatin state (count:254 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:65284200-65291600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr16:65286000-65287200	Weak transcription	Stomach Mucosa	stomach
3	chr16:65287400-65287600	Enhancers	Stomach Mucosa	stomach
4	chr16:65301800-65302400	Enhancers	Osteobl	bone
5	chr16:65302000-65302400	Enhancers	Fetal Heart	heart
6	chr16:65302000-65302600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr16:65302600-65308400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr16:65304000-65304400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr16:65304400-65308800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr16:65304800-65305000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr16:65305000-65308600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr16:65308400-65308800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr16:65308400-65309000	Enhancers	Osteobl	bone
14	chr16:65308400-65309200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr16:65308400-65309200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr16:65308600-65309200	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr16:65308600-65309200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr16:65308600-65309200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr16:65308800-65309000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr16:65308800-65309200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr16:65308800-65309200	Enhancers	HMEC	breast
22	chr16:65308800-65309200	Enhancers	NHEK	skin
23	chr16:65309200-65313000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr16:65309200-65313000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr16:65309200-65313200	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr16:65309200-65314600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr16:65312600-65315200	Enhancers	Stomach Mucosa	stomach
28	chr16:65312800-65313400	Enhancers	Ovary	ovary
29	chr16:65312800-65314000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr16:65313000-65313600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr16:65313000-65319000	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr16:65313000-65319200	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr16:65313000-65319200	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr16:65313000-65319800	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr16:65313200-65313400	Enhancers	Spleen	Spleen
36	chr16:65313200-65313800	Enhancers	H9 Cell Line	embryonic stem cell
37	chr16:65313200-65313800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr16:65313200-65315000	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr16:65313200-65316200	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr16:65313200-65319200	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr16:65313400-65317000	Weak transcription	Ovary	ovary
42	chr16:65313600-65313800	Enhancers	H1 Cell Line	embryonic stem cell
43	chr16:65313600-65317200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr16:65313800-65314000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr16:65313800-65314200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr16:65313800-65314600	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr16:65313800-65314800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr16:65313800-65315000	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr16:65314000-65315000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr16:65314000-65315000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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