Variant report

Variant	esv2325065
Chromosome Location	chr16:81610411-81610763
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81608171..81610692-chr16:81611285..81613307,2	K562	blood:
2	chr16:81607192..81611602-chr16:81637708..81641189,4	MCF-7	breast:
3	chr16:81602634..81605385-chr16:81607710..81610701,3	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117684881	chr16:81610453-81610454	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs11642655	chr16:81610480-81610481	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs374441576	chr16:81610541-81610542	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563278968	chr16:81610567-81610568	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530585562	chr16:81610580-81610581	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551909470	chr16:81610590-81610591	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs12930698	chr16:81610598-81610599	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs534303624	chr16:81610613-81610614	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546518839	chr16:81610629-81610630	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200424074	chr16:81610636-81610637	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568013404	chr16:81610640-81610641	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535332498	chr16:81610642-81610643	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557080341	chr16:81610644-81610645	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12934736	chr16:81610645-81610646	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12930305	chr16:81610646-81610647	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576464286	chr16:81610648-81610649	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12930309	chr16:81610657-81610658	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12930312	chr16:81610658-81610659	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12934751	chr16:81610667-81610668	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs558694538	chr16:81610675-81610676	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577342834	chr16:81610695-81610696	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201996039	chr16:81610696-81610697	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111850287	chr16:81610720-81610721	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12930429	chr16:81610722-81610723	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200244477	chr16:81610724-81610725	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376238578	chr16:81610728-81610729	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200972059	chr16:81610729-81610730	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112294259	chr16:81610731-81610732	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201863212	chr16:81610732-81610733	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111631610	chr16:81610737-81610738	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374575434	chr16:81610741-81610742	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542066998	chr16:81610744-81610745	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200689170	chr16:81610759-81610760	Weak transcription Strong transcription	n/a	n/a	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
Obesity	20622171	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81585600-81628600	Weak transcription	GM12878-XiMat	blood
2	chr16:81588200-81640800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr16:81593200-81619400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr16:81593200-81621000	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr16:81593200-81622400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr16:81593200-81641200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr16:81593400-81619200	Weak transcription	K562	blood
8	chr16:81599000-81633000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr16:81599200-81614600	Weak transcription	Fetal Kidney	kidney
10	chr16:81600400-81616200	Weak transcription	Primary B cells from peripheral blood	blood
11	chr16:81601000-81616200	Weak transcription	Primary T cells from cord blood	blood
12	chr16:81602000-81615600	Weak transcription	Thymus	Thymus
13	chr16:81602200-81615000	Weak transcription	Small Intestine	intestine
14	chr16:81602200-81616000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr16:81602200-81617800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr16:81602400-81611400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr16:81602600-81615400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr16:81602600-81616000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr16:81602600-81616400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr16:81602600-81619200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr16:81602800-81616000	Weak transcription	HSMM	muscle
22	chr16:81603200-81617200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr16:81603400-81616600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr16:81604000-81616200	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr16:81604200-81612200	Weak transcription	Right Ventricle	heart
26	chr16:81604200-81616200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr16:81604200-81619200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr16:81604400-81613600	Weak transcription	NHEK	skin
29	chr16:81604400-81616400	Weak transcription	Left Ventricle	heart
30	chr16:81604600-81613600	Weak transcription	HMEC	breast
31	chr16:81604600-81616600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr16:81606200-81616000	Weak transcription	Fetal Muscle Leg	muscle
33	chr16:81606200-81616400	Weak transcription	Fetal Lung	lung
34	chr16:81606400-81615800	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr16:81606400-81616000	Weak transcription	Fetal Stomach	stomach
36	chr16:81606400-81616200	Weak transcription	Ovary	ovary
37	chr16:81606600-81612800	Weak transcription	Colonic Mucosa	Colon
38	chr16:81606600-81615800	Weak transcription	Fetal Thymus	thymus
39	chr16:81606600-81618000	Weak transcription	Dnd41	blood
40	chr16:81606600-81619200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr16:81606800-81616200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr16:81608000-81611800	Weak transcription	Fetal Intestine Large	intestine
43	chr16:81608000-81614800	Weak transcription	Lung	lung
44	chr16:81608000-81615800	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr16:81608000-81623400	Weak transcription	Fetal Brain Male	brain
46	chr16:81608200-81612000	Weak transcription	Pancreas	Pancrea
47	chr16:81608200-81614400	Weak transcription	Duodenum Mucosa	Duodenum
48	chr16:81608400-81612000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr16:81608400-81616200	Weak transcription	Adipose Nuclei	Adipose
50	chr16:81608600-81612200	Weak transcription	Fetal Intestine Small	intestine

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