Variant report

Variant	nsv514814
Chromosome Location	chr16:72109587-72112435
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:72105312..72108135-chr16:72111951..72113970,2	K562	blood:
2	chr16:72107601..72110331-chr16:72118448..72121540,3	MCF-7	breast:
3	chr16:72112301..72116395-chr16:72123516..72129801,9	K562	blood:
4	chr16:72111604..72113887-chr16:72117079..72119613,2	K562	blood:

Variant related genes	Relation type
ENSG00000260252	chromatin interactions
ENSG00000140830	chromatin interactions
ENSG00000261701	chromatin interactions
ENSG00000140829	chromatin interactions

Extended variants
information (count: 179 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:179 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575694255	chr16:72109602-72109603	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs563254043	chr16:72109617-72109618	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs554962051	chr16:72109672-72109673	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs144643298	chr16:72109678-72109679	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs540581837	chr16:72109700-72109701	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs193140997	chr16:72109711-72109712	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs71391435	chr16:72109732-72109733	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs34334289	chr16:72109733-72109734	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs577042118	chr16:72109736-72109737	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs576589182	chr16:72109741-72109742	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs397804224	chr16:72109747-72109748	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs543878451	chr16:72109755-72109756	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs111719115	chr16:72109761-72109762	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs562275636	chr16:72109820-72109821	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs529630882	chr16:72109822-72109823	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs184622955	chr16:72109843-72109844	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs545682089	chr16:72109853-72109854	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs189024417	chr16:72109860-72109861	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs527539997	chr16:72109872-72109873	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs552203843	chr16:72109875-72109876	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs570604050	chr16:72109879-72109880	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs117660239	chr16:72109892-72109893	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs59793890	chr16:72109907-72109908	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs569423018	chr16:72109918-72109919	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs536749248	chr16:72109922-72109923	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs554911645	chr16:72109927-72109928	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs138609164	chr16:72109960-72109961	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs564642442	chr16:72110001-72110002	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs367790856	chr16:72110005-72110006	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs184026499	chr16:72110017-72110018	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs141725688	chr16:72110042-72110043	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs189392035	chr16:72110049-72110050	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs544442647	chr16:72110087-72110088	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs371217219	chr16:72110096-72110097	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs562239423	chr16:72110100-72110101	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs574147580	chr16:72110106-72110107	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs677764	chr16:72110108-72110109	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs677743	chr16:72110127-72110128	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs560060008	chr16:72110231-72110232	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs369182667	chr16:72110240-72110241	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs372593602	chr16:72110241-72110242	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs552431917	chr16:72110253-72110254	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs201615147	chr16:72110257-72110258	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs368895094	chr16:72110280-72110281	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs531532112	chr16:72110283-72110284	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs146254843	chr16:72110323-72110324	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs568273668	chr16:72110332-72110333	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373952975	chr16:72110342-72110343	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376860619	chr16:72110345-72110346	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371112575	chr16:72110348-72110349	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	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 myeloid leukemia	16864856	CNVD
Infiltrating lobular breast cancer	19191266	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21899760	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	CNVD
Melanoma	22183965	CNVD
Neuroblastoma	18923524	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72060200-72110600	Weak transcription	Esophagus	oesophagus
2	chr16:72090200-72118400	Weak transcription	Lung	lung
3	chr16:72093200-72118000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr16:72093800-72118400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr16:72093800-72118400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr16:72094800-72110600	Weak transcription	Spleen	Spleen
7	chr16:72095800-72111800	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr16:72096800-72118200	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr16:72097200-72118000	Weak transcription	Primary B cells from peripheral blood	blood
10	chr16:72099200-72111800	Weak transcription	Primary T cells from cord blood	blood
11	chr16:72102800-72118400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr16:72103600-72110600	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr16:72104200-72117800	Weak transcription	Thymus	Thymus
14	chr16:72104800-72117800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr16:72106400-72118200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr16:72106600-72126400	Weak transcription	Small Intestine	intestine
17	chr16:72106800-72112000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr16:72106800-72117800	Weak transcription	Fetal Intestine Small	intestine
19	chr16:72106800-72118000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr16:72107000-72118200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr16:72107000-72118200	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr16:72107200-72110800	Strong transcription	Liver	Liver
23	chr16:72107600-72111600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr16:72107600-72117800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr16:72108000-72109600	Enhancers	Aorta	Aorta
26	chr16:72108000-72118000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr16:72108000-72118000	Weak transcription	Psoas Muscle	Psoas
28	chr16:72108000-72126400	Weak transcription	Fetal Heart	heart
29	chr16:72108200-72118000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr16:72108200-72118000	Weak transcription	Adipose Nuclei	Adipose
31	chr16:72108200-72118000	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr16:72108200-72118400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr16:72108200-72118400	Weak transcription	Fetal Brain Female	brain
34	chr16:72108400-72111800	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr16:72108400-72117800	Weak transcription	Primary B cells from cord blood	blood
36	chr16:72108400-72118400	Weak transcription	Brain Anterior Caudate	brain
37	chr16:72108400-72118400	Weak transcription	Fetal Muscle Leg	muscle
38	chr16:72108400-72118400	Weak transcription	Right Ventricle	heart
39	chr16:72108400-72118600	Weak transcription	Colon Smooth Muscle	Colon
40	chr16:72108400-72119000	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr16:72108600-72111400	Weak transcription	Ovary	ovary
42	chr16:72108600-72111800	Weak transcription	Fetal Stomach	stomach
43	chr16:72108600-72117800	Weak transcription	Brain Angular Gyrus	brain
44	chr16:72108600-72118400	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr16:72108600-72118400	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr16:72108600-72118400	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr16:72108800-72110400	Weak transcription	Stomach Smooth Muscle	stomach
48	chr16:72108800-72110400	Weak transcription	HepG2	liver
49	chr16:72108800-72117800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr16:72108800-72118200	Weak transcription	Brain Substantia Nigra	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links