Variant report

Variant	nsv827555
Chromosome Location	chr16:12413244-12429978
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:12426103..12428836-chr16:12432217..12434096,4	K562	blood:
2	chr16:12405145..12407568-chr16:12414371..12416056,2	MCF-7	breast:
3	chr16:12412998..12415794-chr16:12417822..12420522,2	MCF-7	breast:
4	chr16:12415388..12417131-chr16:12421455..12424382,2	MCF-7	breast:
5	chr16:12426504..12430184-chr16:12432340..12435917,5	K562	blood:
6	chr16:12412998..12415794-chr16:12417822..12420522,2	MCF-7	breast:
7	chr16:12415388..12417131-chr16:12421455..12424382,2	MCF-7	breast:
8	chr16:12407586..12410005-chr16:12412153..12414940,2	K562	blood:
9	chr16:12388084..12390009-chr16:12417985..12420361,2	MCF-7	breast:

No data

Extended variants
information (count: 857 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:857 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530781983	chr16:12413244-12413245	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs375381670	chr16:12413279-12413280	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs150686695	chr16:12413328-12413329	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs570003562	chr16:12413427-12413428	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535591014	chr16:12413479-12413480	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs369935876	chr16:12413511-12413512	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138954794	chr16:12413527-12413528	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs368901908	chr16:12413534-12413535	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs538773524	chr16:12413558-12413559	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs535268005	chr16:12413572-12413573	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs209847	chr16:12413578-12413579	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557922788	chr16:12413628-12413629	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs370977721	chr16:12413640-12413641	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566459837	chr16:12413686-12413687	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543662648	chr16:12413741-12413742	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs149340692	chr16:12413751-12413752	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573548749	chr16:12413754-12413755	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542245440	chr16:12413782-12413783	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs139929567	chr16:12413848-12413849	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs183850923	chr16:12413861-12413862	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs185438975	chr16:12413867-12413868	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs557896636	chr16:12413877-12413878	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs114448181	chr16:12413908-12413909	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs565023034	chr16:12413942-12413943	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs115684238	chr16:12414002-12414003	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs145448101	chr16:12414029-12414030	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567427745	chr16:12414037-12414038	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs371852054	chr16:12414064-12414065	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs551996550	chr16:12414106-12414107	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs549099974	chr16:12414136-12414137	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs566211480	chr16:12414167-12414168	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs147283780	chr16:12414183-12414184	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557937973	chr16:12414196-12414197	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs116177230	chr16:12414217-12414218	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs537368592	chr16:12414225-12414226	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs368322157	chr16:12414257-12414258	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs553480100	chr16:12414260-12414261	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557660611	chr16:12414304-12414305	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs78484871	chr16:12414320-12414321	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs574233578	chr16:12414324-12414325	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs536283494	chr16:12414340-12414341	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs148660696	chr16:12414353-12414354	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs572907055	chr16:12414362-12414363	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs545093629	chr16:12414396-12414397	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs571664975	chr16:12414420-12414421	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs565099700	chr16:12414462-12414463	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs189917716	chr16:12414492-12414493	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs142181835	chr16:12414505-12414506	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs182603940	chr16:12414577-12414578	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs151214784	chr16:12414627-12414628	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	17603634	CNVD
Hodgkin''s lymphoma	20651079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Autism	22566537	CNVD
Intellectual disability	22566537	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
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
Lung cancer	18438408	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21509527	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22102821	CNVD
Autism	22495311	CNVD
idiopathic generalized epilepsy	19843651	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Intellectual disability	22102821	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelofibrosis	22110671	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Prostate cancer	18632612	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lujan-Fryns syndrom	21521776	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	19786961	CNVD
Mental retardation	19786961	CNVD
Schizophrenia	19786961	CNVD
Mental retardation	19951919	CNVD
Autism	18791038	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Malignant germ cell tumour	17285132	CNVD
Autism	17480035	CNVD
Schizophrenia	19955444	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21858162	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:343 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12359800-12418000	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr16:12371400-12456800	Weak transcription	Aorta	Aorta
3	chr16:12373400-12414200	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr16:12374200-12417200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr16:12395400-12413800	Weak transcription	Left Ventricle	heart
6	chr16:12395600-12417200	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr16:12396000-12414800	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr16:12396200-12414000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr16:12396800-12416400	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr16:12404000-12414800	Weak transcription	Thymus	Thymus
11	chr16:12404200-12427400	Weak transcription	Primary T cells from cord blood	blood
12	chr16:12404600-12413400	Weak transcription	Fetal Heart	heart
13	chr16:12405600-12426400	Weak transcription	Lung	lung
14	chr16:12405600-12442400	Weak transcription	Spleen	Spleen
15	chr16:12405800-12417800	Weak transcription	Adipose Nuclei	Adipose
16	chr16:12408800-12417200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr16:12409000-12414000	Weak transcription	NHDF-Ad	bronchial
18	chr16:12409400-12413400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr16:12409400-12417400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr16:12409400-12417600	Weak transcription	Fetal Intestine Small	intestine
21	chr16:12409400-12417800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr16:12409600-12413400	Weak transcription	Fetal Stomach	stomach
23	chr16:12409800-12413400	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr16:12410000-12413400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr16:12410000-12413400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr16:12410000-12413800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr16:12410000-12414400	Weak transcription	Fetal Thymus	thymus
28	chr16:12410000-12456600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr16:12410200-12413400	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr16:12410200-12424400	Weak transcription	Right Atrium	heart
31	chr16:12410200-12464800	Weak transcription	Gastric	stomach
32	chr16:12410600-12415000	Weak transcription	Pancreas	Pancrea
33	chr16:12410800-12414800	Genic enhancers	Primary B cells from peripheral blood	blood
34	chr16:12410800-12414800	Weak transcription	Stomach Mucosa	stomach
35	chr16:12411400-12414000	Weak transcription	GM12878-XiMat	blood
36	chr16:12411600-12413400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr16:12411600-12413800	Weak transcription	Primary B cells from cord blood	blood
38	chr16:12411600-12416000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr16:12411800-12413400	Flanking Active TSS	NHEK	skin
40	chr16:12411800-12413600	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr16:12411800-12413600	Weak transcription	Fetal Brain Male	brain
42	chr16:12412000-12413400	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr16:12412000-12413400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr16:12412000-12414800	Weak transcription	Esophagus	oesophagus
45	chr16:12412200-12414000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr16:12412200-12416000	Enhancers	HepG2	liver
47	chr16:12412400-12413600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr16:12412400-12415200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr16:12412600-12414200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr16:12412600-12414400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links