Variant report

Variant	esv3401957
Chromosome Location	chr16:81502651-81507149
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81502365..81504791-chr16:81811321..81813304,2	K562	blood:
2	chr16:81480768..81483026-chr16:81506735..81508794,2	MCF-7	breast:
3	chr16:81493353..81497487-chr16:81505659..81509589,4	MCF-7	breast:
4	chr16:81500553..81502385-chr16:81503708..81505589,2	MCF-7	breast:
5	chr16:81506233..81509171-chr16:81529935..81531469,2	MCF-7	breast:
6	chr16:81504288..81507057-chr16:81508113..81511868,3	MCF-7	breast:
7	chr16:81501153..81503002-chr16:81601427..81603985,2	K562	blood:

Variant related genes	Relation type
ENSG00000260229	chromatin interactions
ENSG00000197943	chromatin interactions

Extended variants
information (count: 258 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:258 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562347903	chr16:81502658-81502659	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs115504344	chr16:81502683-81502684	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs368943986	chr16:81502699-81502700	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs375894141	chr16:81502712-81502713	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs8062519	chr16:81502717-81502718	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs147340909	chr16:81502722-81502723	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs533367791	chr16:81502745-81502746	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs551417511	chr16:81502794-81502795	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs566462250	chr16:81502796-81502797	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs533752166	chr16:81502818-81502819	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs554968974	chr16:81502866-81502867	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs567205702	chr16:81502890-81502891	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs537786037	chr16:81502891-81502892	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs78467650	chr16:81503003-81503004	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs564197213	chr16:81503020-81503021	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs76957501	chr16:81503111-81503112	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs544884019	chr16:81503119-81503120	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs558196403	chr16:81503120-81503121	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs117492519	chr16:81503179-81503180	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs540607287	chr16:81503188-81503189	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs139481441	chr16:81503215-81503216	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs2927300	chr16:81503219-81503220	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs538613403	chr16:81503282-81503283	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs145627146	chr16:81503289-81503290	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs4889324	chr16:81503294-81503295	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs141122258	chr16:81503296-81503297	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs36085382	chr16:81503351-81503352	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs551703147	chr16:81503371-81503372	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs36005937	chr16:81503373-81503374	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs535458470	chr16:81503379-81503380	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs369104150	chr16:81503387-81503388	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs527426620	chr16:81503401-81503402	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs2927299	chr16:81503403-81503404	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs568799140	chr16:81503469-81503470	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs566970212	chr16:81503498-81503499	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs537450385	chr16:81503513-81503514	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs537639484	chr16:81503520-81503521	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs145816954	chr16:81503521-81503522	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs571464756	chr16:81503533-81503534	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs12596482	chr16:81503540-81503541	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs75198363	chr16:81503543-81503544	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs180960184	chr16:81503569-81503570	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs534337269	chr16:81503572-81503573	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs535454634	chr16:81503643-81503644	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs577960008	chr16:81503654-81503655	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs555903945	chr16:81503693-81503694	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs542221185	chr16:81503704-81503705	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs371915233	chr16:81503732-81503733	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs577379096	chr16:81503738-81503739	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs544634714	chr16:81503757-81503758	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Obesity	20622171	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:462 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81482000-81507000	Weak transcription	Fetal Heart	heart
2	chr16:81485600-81516800	Weak transcription	Hela-S3	cervix
3	chr16:81486600-81525200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr16:81487000-81504400	Weak transcription	Fetal Brain Male	brain
5	chr16:81487000-81507200	Weak transcription	Colon Smooth Muscle	Colon
6	chr16:81490600-81509800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr16:81491600-81503400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr16:81492200-81504400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr16:81492200-81504400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr16:81492200-81512200	Genic enhancers	A549	lung
11	chr16:81492400-81503000	Weak transcription	NH-A	brain
12	chr16:81492400-81503400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr16:81492600-81506200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr16:81492800-81504600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr16:81493000-81504400	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr16:81494200-81503400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr16:81495200-81503400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr16:81495400-81502800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr16:81496400-81503200	Weak transcription	HUVEC	blood vessel
20	chr16:81496800-81503400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr16:81496800-81506200	Weak transcription	NHLF	lung
22	chr16:81496800-81514400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr16:81497600-81504000	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr16:81497600-81514600	Weak transcription	HSMM	muscle
25	chr16:81497800-81503600	Enhancers	Pancreas	Pancrea
26	chr16:81498000-81502800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr16:81498000-81506600	Weak transcription	Ovary	ovary
28	chr16:81498400-81502800	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr16:81498800-81503200	Enhancers	Primary T cells from cord blood	blood
30	chr16:81498800-81503200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr16:81498800-81504400	Enhancers	Brain Angular Gyrus	brain
32	chr16:81498800-81504400	Enhancers	Duodenum Mucosa	Duodenum
33	chr16:81499000-81503400	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr16:81499000-81503400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr16:81499000-81503600	Enhancers	Primary T cells fromperipheralblood	blood
36	chr16:81499000-81504600	Enhancers	Spleen	Spleen
37	chr16:81499200-81504400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr16:81499200-81504600	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr16:81499600-81503400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr16:81499600-81504000	Genic enhancers	HepG2	liver
41	chr16:81499800-81504000	Enhancers	Brain Anterior Caudate	brain
42	chr16:81499800-81504000	Enhancers	Small Intestine	intestine
43	chr16:81500000-81503200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr16:81500000-81503200	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr16:81500000-81505000	Enhancers	Fetal Thymus	thymus
46	chr16:81500200-81502800	Enhancers	GM12878-XiMat	blood
47	chr16:81500200-81503200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr16:81500400-81506200	Weak transcription	NHDF-Ad	bronchial
49	chr16:81500400-81506800	Weak transcription	Osteobl	bone
50	chr16:81500600-81503000	Enhancers	Primary T helper naive cells from peripheral blood	blood

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