Variant report

Variant	esv33408
Chromosome Location	chr16:80706129-80745371
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:36)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:80708985..80711337-chr16:80752928..80755974,3	MCF-7	breast:
2	chr16:80715724..80718304-chr16:80740756..80743210,2	MCF-7	breast:
3	chr16:80711707..80713516-chr16:80717289..80718938,2	MCF-7	breast:
4	chr16:80736212..80738692-chr16:80749394..80751411,2	MCF-7	breast:
5	chr16:80709015..80710626-chr16:80725434..80728400,2	K562	blood:
6	chr16:80709777..80712753-chr16:80715785..80718151,2	MCF-7	breast:
7	chr16:80740866..80745850-chr16:80746158..80752647,10	MCF-7	breast:
8	chr16:80720075..80722615-chr16:80727396..80729407,2	K562	blood:
9	chr16:80744840..80746889-chr16:80835828..80837978,2	MCF-7	breast:
10	chr16:80721737..80724412-chr16:80744217..80747086,2	MCF-7	breast:
11	chr16:80737650..80739808-chr16:80747351..80749079,2	K562	blood:
12	chr16:80724294..80726399-chr16:80735522..80737702,2	MCF-7	breast:
13	chr16:80702290..80705033-chr16:80707661..80710306,2	MCF-7	breast:
14	chr16:80723055..80725180-chr16:80728525..80730099,2	MCF-7	breast:
15	chr16:80720075..80722615-chr16:80727396..80729407,2	K562	blood:
16	chr16:80731285..80733267-chr16:80733404..80735204,2	MCF-7	breast:
17	chr16:80723055..80725180-chr16:80728525..80730099,2	MCF-7	breast:
18	chr16:80711707..80713516-chr16:80717289..80718938,2	MCF-7	breast:
19	chr16:80742662..80744289-chr16:80745617..80747246,2	MCF-7	breast:
20	chr16:80742029..80744707-chr16:80834367..80837032,2	MCF-7	breast:
21	chr16:80721737..80724412-chr16:80744217..80747086,2	MCF-7	breast:
22	chr16:80709015..80710626-chr16:80725434..80728400,2	K562	blood:
23	chr16:80690511..80692099-chr16:80709301..80711320,2	MCF-7	breast:
24	chr16:80732152..80734988-chr16:80742943..80745813,2	MCF-7	breast:
25	chr16:80718305..80720892-chr16:80722059..80725266,3	MCF-7	breast:
26	chr16:80732152..80734988-chr16:80742943..80745813,2	MCF-7	breast:
27	chr16:80695632..80702044-chr16:80703955..80710409,7	MCF-7	breast:
28	chr16:80713625..80716646-chr16:80751671..80755053,3	MCF-7	breast:
29	chr16:80715724..80718304-chr16:80740756..80743210,2	MCF-7	breast:
30	chr16:80718305..80720892-chr16:80722059..80725266,3	MCF-7	breast:
31	chr16:80724294..80726399-chr16:80735522..80737702,2	MCF-7	breast:
32	chr16:80715158..80718129-chr16:80746227..80748561,2	MCF-7	breast:
33	chr1:149223901..149224627-chr16:80722032..80723032,3	Hela-S3	cervix:
34	chr16:80731285..80733267-chr16:80733404..80735204,2	MCF-7	breast:
35	chr16:80709777..80712753-chr16:80715785..80718151,2	MCF-7	breast:
36	chr16:80744947..80746729-chr16:80753397..80755885,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000206737	chromatin interactions
ENSG00000265341	chromatin interactions

Extended variants
information (count: 2147 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:2147 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs896628	chr16:80706151-80706152	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs148398761	chr16:80706163-80706164	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs12930948	chr16:80706171-80706172	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs112383383	chr16:80706216-80706217	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs192313872	chr16:80706231-80706232	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs199547447	chr16:80706245-80706246	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs542619896	chr16:80706247-80706248	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs562521303	chr16:80706249-80706250	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs372859345	chr16:80706251-80706252	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs376136956	chr16:80706253-80706254	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs370691830	chr16:80706255-80706256	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs576629782	chr16:80706263-80706264	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs188233405	chr16:80706271-80706272	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs77681077	chr16:80706276-80706277	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs567412036	chr16:80706305-80706306	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs896627	chr16:80706314-80706315	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs111986255	chr16:80706330-80706331	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs566705190	chr16:80706377-80706378	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs192954025	chr16:80706393-80706394	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs113804334	chr16:80706412-80706413	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs77020256	chr16:80706420-80706421	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs146655854	chr16:80706424-80706425	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs371642605	chr16:80706426-80706427	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs376949084	chr16:80706430-80706431	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs200559199	chr16:80706432-80706433	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs550439828	chr16:80706440-80706441	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs538963696	chr16:80706486-80706487	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs543789488	chr16:80706506-80706507	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs367631690	chr16:80706511-80706512	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs565285665	chr16:80706537-80706538	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs573292039	chr16:80706540-80706541	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs116791548	chr16:80706547-80706548	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs16953801	chr16:80706607-80706608	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs117955346	chr16:80706617-80706618	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs544467762	chr16:80706637-80706638	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs10514505	chr16:80706677-80706678	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs577893759	chr16:80706721-80706722	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs545314817	chr16:80706747-80706748	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs76894962	chr16:80706757-80706758	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs546489632	chr16:80706766-80706767	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs527300659	chr16:80706785-80706786	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs144823875	chr16:80706789-80706790	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs560811797	chr16:80706796-80706797	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs562723812	chr16:80706805-80706806	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs566516999	chr16:80706809-80706810	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs147922425	chr16:80706844-80706845	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs189783432	chr16:80706847-80706848	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs528997698	chr16:80706860-80706861	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs549131765	chr16:80706871-80706872	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs373982169	chr16:80706872-80706873	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Neuroblastoma	18923524	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD
Obesity	20622171	CNVD

Chromatin state (count:302 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80674400-80707600	Weak transcription	Placenta	Placenta
2	chr16:80687000-80716200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr16:80689000-80751000	Weak transcription	Pancreas	Pancrea
4	chr16:80690600-80728000	Weak transcription	Gastric	stomach
5	chr16:80699400-80723000	Weak transcription	HUVEC	blood vessel
6	chr16:80701200-80706400	Strong transcription	Hela-S3	cervix
7	chr16:80701600-80717800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr16:80703200-80707000	Enhancers	Primary B cells from peripheral blood	blood
9	chr16:80703400-80723400	Weak transcription	Esophagus	oesophagus
10	chr16:80703800-80713600	Weak transcription	Lung	lung
11	chr16:80704000-80706600	Enhancers	Primary B cells from cord blood	blood
12	chr16:80704400-80711400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr16:80704600-80721000	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr16:80704800-80707800	Weak transcription	Fetal Intestine Small	intestine
15	chr16:80705400-80709800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr16:80705400-80709800	Weak transcription	Spleen	Spleen
17	chr16:80705600-80710400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr16:80705600-80711200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr16:80705800-80706800	Enhancers	GM12878-XiMat	blood
20	chr16:80705800-80716200	Weak transcription	HSMMtube	muscle
21	chr16:80706000-80706400	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr16:80706000-80707800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr16:80706000-80710000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr16:80706000-80710200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr16:80706000-80710600	Weak transcription	Primary hematopoietic stem cells	blood
26	chr16:80706200-80734400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr16:80706400-80706800	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr16:80706400-80707200	Weak transcription	Hela-S3	cervix
29	chr16:80706800-80709600	Weak transcription	GM12878-XiMat	blood
30	chr16:80707200-80710800	Strong transcription	Hela-S3	cervix
31	chr16:80707600-80708200	Strong transcription	Placenta	Placenta
32	chr16:80707800-80708200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
33	chr16:80707800-80709200	Strong transcription	Fetal Intestine Small	intestine
34	chr16:80708200-80708800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr16:80708200-80715400	Weak transcription	Placenta	Placenta
36	chr16:80708600-80710000	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr16:80708800-80709000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
38	chr16:80708800-80709200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
39	chr16:80709000-80709400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
40	chr16:80709000-80710200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr16:80709200-80709400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
42	chr16:80709200-80710000	Weak transcription	Fetal Intestine Small	intestine
43	chr16:80709200-80711600	Enhancers	Primary B cells from peripheral blood	blood
44	chr16:80709400-80709800	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr16:80709400-80711600	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr16:80709600-80709800	Enhancers	GM12878-XiMat	blood
47	chr16:80709600-80711600	Enhancers	Primary B cells from cord blood	blood
48	chr16:80709800-80710200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr16:80709800-80710600	Enhancers	Fetal Intestine Large	intestine
50	chr16:80709800-80710800	Enhancers	Spleen	Spleen

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