Variant report

Variant	esv3313068
Chromosome Location	chr16:81154479-81157384
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81129115..81131910-chr16:81152675..81155542,2	K562	blood:
2	chr16:81155345..81157687-chr16:81159354..81162522,3	MCF-7	breast:
3	chr16:81149124..81150808-chr16:81152583..81155563,2	MCF-7	breast:
4	chr16:81152674..81158113-chr16:81158859..81162763,5	K562	blood:

Variant related genes	Relation type
ENSG00000140905	chromatin interactions

Extended variants
information (count: 213 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:213 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531846853	chr16:81154493-81154494	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs147292927	chr16:81154498-81154499	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs193196053	chr16:81154508-81154509	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs555875520	chr16:81154523-81154524	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs74566423	chr16:81154557-81154558	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs575778723	chr16:81154563-81154564	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs185158326	chr16:81154564-81154565	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs35667977	chr16:81154572-81154573	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs536069808	chr16:81154586-81154587	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs554707993	chr16:81154620-81154621	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs6564826	chr16:81154649-81154650	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs577389341	chr16:81154720-81154721	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs543736577	chr16:81154730-81154731	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs556634362	chr16:81154756-81154757	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs544804852	chr16:81154794-81154795	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs542267683	chr16:81154813-81154814	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs578059342	chr16:81154826-81154827	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs545513869	chr16:81154828-81154829	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs560405235	chr16:81154856-81154857	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs56709138	chr16:81154865-81154866	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs542863606	chr16:81154876-81154877	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs561102359	chr16:81154886-81154887	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs144685688	chr16:81154889-81154890	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs112247225	chr16:81154900-81154901	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs570937058	chr16:81154963-81154964	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs189959724	chr16:81154984-81154985	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs532031969	chr16:81155006-81155007	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs547332926	chr16:81155020-81155021	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs181221099	chr16:81155029-81155030	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs139228694	chr16:81155035-81155036	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs554849897	chr16:81155051-81155052	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs377651946	chr16:81155068-81155069	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs557576474	chr16:81155069-81155070	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs569856220	chr16:81155096-81155097	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs185331582	chr16:81155112-81155113	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs558871392	chr16:81155120-81155121	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs540514247	chr16:81155135-81155136	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs370437197	chr16:81155161-81155162	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs377536804	chr16:81155171-81155172	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs371023144	chr16:81155172-81155173	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs375783050	chr16:81155199-81155200	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs368253588	chr16:81155202-81155203	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs370741721	chr16:81155214-81155215	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs367927715	chr16:81155224-81155225	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs201344146	chr16:81155231-81155232	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs374349898	chr16:81155240-81155241	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs554098619	chr16:81155247-81155248	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs572454755	chr16:81155253-81155254	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs543928507	chr16:81155260-81155261	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs543106218	chr16:81155263-81155264	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Neuroblastoma	18923524	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Obesity	20622171	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81130000-81187600	Weak transcription	Right Atrium	heart
2	chr16:81141200-81156600	Weak transcription	Brain Angular Gyrus	brain
3	chr16:81141200-81169600	Weak transcription	Brain Anterior Caudate	brain
4	chr16:81141400-81169600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr16:81141400-81169600	Weak transcription	Brain Hippocampus Middle	brain
6	chr16:81147800-81156800	Weak transcription	Adipose Nuclei	Adipose
7	chr16:81151400-81173000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr16:81154000-81156600	Weak transcription	HepG2	liver
9	chr16:81154000-81198800	Weak transcription	Right Ventricle	heart
10	chr16:81154200-81155200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr16:81154400-81169800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr16:81155000-81156000	Enhancers	Placenta	Placenta
13	chr16:81155000-81161000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr16:81155200-81155600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr16:81155400-81155600	Bivalent Enhancer	K562	blood
16	chr16:81155400-81174600	Weak transcription	Left Ventricle	heart
17	chr16:81155600-81160200	Weak transcription	Ovary	ovary
18	chr16:81155600-81160400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr16:81156000-81156400	Weak transcription	Placenta	Placenta
20	chr16:81156400-81157400	Enhancers	Fetal Intestine Small	intestine
21	chr16:81156400-81157600	Enhancers	Placenta	Placenta
22	chr16:81156600-81156800	Enhancers	HepG2	liver
23	chr16:81156600-81157600	Enhancers	Liver	Liver
24	chr16:81156800-81157000	Flanking Active TSS	HepG2	liver
25	chr16:81156800-81157600	Strong transcription	Adipose Nuclei	Adipose
26	chr16:81156800-81157600	Bivalent Enhancer	K562	blood
27	chr16:81157000-81157200	Enhancers	HepG2	liver
28	chr16:81157200-81157400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr16:81157200-81157400	Flanking Active TSS	HepG2	liver
30	chr16:81157200-81157600	Enhancers	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links