Variant report

Variant	nsv977093
Chromosome Location	chr16:71520834-71522813
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD2	chr16:71521019-71521219	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:71516946..71520167-chr16:71520825..71527785,6	MCF-7	breast:
2	chr16:71517111..71518667-chr16:71521366..71523864,2	K562	blood:
3	chr16:71515755..71518920-chr16:71520634..71524924,4	K562	blood:
4	chr16:71492651..71498511-chr16:71515020..71523604,17	K562	blood:
5	chr16:71490751..71498047-chr16:71514421..71521729,20	MCF-7	breast:
6	chr16:71492243..71500079-chr16:71512817..71521299,31	MCF-7	breast:
7	chr16:71517404..71519756-chr16:71521184..71524689,3	MCF-7	breast:

No data

Variant related genes	Relation type
ZNF19	TF binding region
ENSG00000167377	chromatin interactions
ENSG00000247324	chromatin interactions
ENSG00000157429	chromatin interactions

Extended variants
information (count: 59 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577563890	chr16:71520863-71520864	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs544816652	chr16:71520892-71520893	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs74723410	chr16:71520926-71520927	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs530753274	chr16:71520998-71520999	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs76712118	chr16:71520999-71521000	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs561029673	chr16:71521054-71521055	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs528403441	chr16:71521095-71521096	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs555207841	chr16:71521112-71521113	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs573361369	chr16:71521118-71521119	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs546866737	chr16:71521125-71521126	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs565984948	chr16:71521167-71521168	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs372388907	chr16:71521175-71521176	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs533349422	chr16:71521194-71521195	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs551613947	chr16:71521210-71521211	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs375713603	chr16:71521221-71521222	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs8043679	chr16:71521264-71521265	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs531173292	chr16:71521371-71521372	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs150405740	chr16:71521395-71521396	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs17280055	chr16:71521424-71521425	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs77686576	chr16:71521443-71521444	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs567475565	chr16:71521446-71521447	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs138209391	chr16:71521595-71521596	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs571922460	chr16:71521621-71521622	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs184719331	chr16:71521721-71521722	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs577600362	chr16:71521803-71521804	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs534502790	chr16:71521812-71521813	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs187539025	chr16:71521840-71521841	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs191618248	chr16:71521878-71521879	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs184249818	chr16:71521916-71521917	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs142484753	chr16:71521967-71521968	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs561065080	chr16:71521974-71521975	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs370419081	chr16:71522010-71522011	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs532517536	chr16:71522018-71522019	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs4275857	chr16:71522028-71522029	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs567853950	chr16:71522089-71522090	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs565168488	chr16:71522148-71522149	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs532280544	chr16:71522204-71522205	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs573094312	chr16:71522221-71522222	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs551770646	chr16:71522239-71522240	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs13330287	chr16:71522271-71522272	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs556350163	chr16:71522272-71522273	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs530917115	chr16:71522310-71522311	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs576505470	chr16:71522316-71522317	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs143234887	chr16:71522387-71522388	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs567562377	chr16:71522415-71522416	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs534873704	chr16:71522423-71522424	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs553418456	chr16:71522429-71522430	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs544229519	chr16:71522468-71522469	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs112356024	chr16:71522518-71522519	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs13331410	chr16:71522574-71522575	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	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
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	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
T-cell prolymphocytic leukemia	17713554	CNVD
Acute myeloid leukemia	16864856	CNVD
Infiltrating lobular breast cancer	19191266	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21899760	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	CNVD
Melanoma	22183965	CNVD
Neuroblastoma	18923524	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71518600-71523800	Weak transcription	Lung	lung
2	chr16:71519000-71522800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr16:71519000-71523600	Weak transcription	K562	blood
4	chr16:71519200-71523400	Weak transcription	Right Atrium	heart
5	chr16:71522800-71523200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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