Variant report

Variant	esv14137
Chromosome Location	chr16:81904767-81909407
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:81771271..81771837-chr16:81907671..81908486,2	K562	blood:
2	chr16:81812030..81814193-chr16:81906957..81908685,2	MCF-7	breast:
3	chr16:81784568..81786973-chr16:81909208..81911893,2	K562	blood:
4	chr16:81890922..81893085-chr16:81907895..81910749,2	K562	blood:
5	chr16:81829706..81831905-chr16:81903990..81906262,2	MCF-7	breast:
6	chr16:81771864..81773960-chr16:81907578..81909544,2	MCF-7	breast:
7	chr16:81812978..81813631-chr16:81907214..81907808,2	K562	blood:
8	chr16:81437241..81437756-chr16:81907474..81908022,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000261218	chromatin interactions
ENSG00000197943	chromatin interactions

Extended variants
information (count: 315 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:315 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78505092	chr16:81904772-81904773	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs7187837	chr16:81904777-81904778	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs549168117	chr16:81904780-81904781	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs7187163	chr16:81904782-81904783	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs371002403	chr16:81904801-81904802	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538157943	chr16:81904804-81904805	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs182390751	chr16:81904811-81904812	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553468668	chr16:81904820-81904821	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577705411	chr16:81904829-81904830	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187023553	chr16:81904832-81904833	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs28489594	chr16:81904840-81904841	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs191869463	chr16:81904842-81904843	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs182854919	chr16:81904898-81904899	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs567834353	chr16:81904926-81904927	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188784235	chr16:81904944-81904945	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs573924991	chr16:81904965-81904966	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544487680	chr16:81904998-81904999	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs562883890	chr16:81905005-81905006	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs150647112	chr16:81905017-81905018	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs9923780	chr16:81905036-81905037	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs193054730	chr16:81905049-81905050	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs527798768	chr16:81905057-81905058	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs549168483	chr16:81905068-81905069	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs567444784	chr16:81905070-81905071	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565242821	chr16:81905092-81905093	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550097777	chr16:81905093-81905094	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571570830	chr16:81905126-81905127	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs4997775	chr16:81905143-81905144	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs543711935	chr16:81905173-81905174	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs4997774	chr16:81905185-81905186	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs572017588	chr16:81905189-81905190	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs374461661	chr16:81905200-81905201	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536324539	chr16:81905203-81905204	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs4997773	chr16:81905251-81905252	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs572082677	chr16:81905287-81905288	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs4997772	chr16:81905295-81905296	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs562794471	chr16:81905321-81905322	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs536224694	chr16:81905332-81905333	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs116819605	chr16:81905335-81905336	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs560554103	chr16:81905339-81905340	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs77745153	chr16:81905381-81905382	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs549492465	chr16:81905390-81905391	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs561417273	chr16:81905393-81905394	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs531488598	chr16:81905394-81905395	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs550012282	chr16:81905400-81905401	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs4997771	chr16:81905409-81905410	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs76230660	chr16:81905428-81905429	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs547403148	chr16:81905429-81905430	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs565654709	chr16:81905447-81905448	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs535908252	chr16:81905450-81905451	Weak transcription Strong transcription Genic enhancers	n/a	n/a	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
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
Colorectal cancer	16272173	CNVD
Prostate cancer	16461572	CNVD

Chromatin state (count:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81876200-81918200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr16:81880000-81911200	Weak transcription	Pancreas	Pancrea
3	chr16:81880400-81908200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr16:81894800-81912400	Weak transcription	Fetal Intestine Small	intestine
5	chr16:81896800-81910400	Weak transcription	Gastric	stomach
6	chr16:81898800-81907400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr16:81898800-81912400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr16:81899000-81934600	Weak transcription	Right Atrium	heart
9	chr16:81900400-81904800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr16:81900800-81925000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr16:81901000-81907800	Weak transcription	Liver	Liver
12	chr16:81901000-81929200	Weak transcription	Brain Substantia Nigra	brain
13	chr16:81901200-81911200	Weak transcription	Lung	lung
14	chr16:81901200-81925000	Weak transcription	Adipose Nuclei	Adipose
15	chr16:81901400-81906400	Weak transcription	HUVEC	blood vessel
16	chr16:81901400-81906600	Weak transcription	Fetal Thymus	thymus
17	chr16:81901600-81906200	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr16:81901600-81906800	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr16:81901800-81906600	Strong transcription	Primary hematopoietic stem cells	blood
20	chr16:81902000-81905200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr16:81902000-81906200	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr16:81902200-81905000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr16:81902600-81906200	Strong transcription	Primary B cells from peripheral blood	blood
24	chr16:81902600-81906200	Strong transcription	GM12878-XiMat	blood
25	chr16:81902600-81906400	Strong transcription	Primary B cells from cord blood	blood
26	chr16:81902600-81908000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr16:81902800-81955600	Weak transcription	Fetal Kidney	kidney
28	chr16:81903000-81905200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr16:81903200-81907400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr16:81903200-81910000	Weak transcription	Spleen	Spleen
31	chr16:81904000-81905000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr16:81904400-81906200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr16:81904400-81916800	Weak transcription	Fetal Intestine Large	intestine
34	chr16:81904800-81906200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr16:81905000-81907200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr16:81905200-81906000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr16:81905200-81906400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr16:81905800-81943000	Weak transcription	Small Intestine	intestine
39	chr16:81906000-81908400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr16:81906000-81909600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr16:81906200-81906600	Genic enhancers	Primary neutrophils fromperipheralblood	blood
42	chr16:81906200-81906600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr16:81906200-81907200	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr16:81906200-81907800	Enhancers	Primary T cells fromperipheralblood	blood
45	chr16:81906200-81908400	Genic enhancers	Primary B cells from peripheral blood	blood
46	chr16:81906200-81908400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr16:81906200-81908400	Genic enhancers	GM12878-XiMat	blood
48	chr16:81906400-81906800	Genic enhancers	Primary B cells from cord blood	blood
49	chr16:81906400-81908000	Enhancers	HUVEC	blood vessel
50	chr16:81906400-81908400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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