Variant report

Variant	nsv528018
Chromosome Location	chr16:12653650-12657321
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:122)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr16:12653713-12653913	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr16:12653660-12653918	IMR90	lung:	n/a	n/a
3	FOSL2	chr16:12653618-12653961	SK-N-SH	brain:	n/a	n/a
4	MAFK	chr16:12656232-12656255	HepG2	liver:	n/a	n/a
5	PBX3	chr16:12653392-12653868	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr16:12656261-12656340	GM12878	blood:	n/a	n/a
7	RCOR1	chr16:12653408-12654149	IMR90	lung:	n/a	n/a
8	TCF12	chr16:12653388-12654002	SK-N-SH	brain:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:12657151-12657201	HNPCEpiC	eye:	n/a
2	chr16:12656958-12657008	A549	lung:	n/a
3	chr16:12656958-12657008	AG09309	skin:	n/a
4	chr16:12656958-12657008	HEEpiC	esophagus:	n/a
5	chr16:12657151-12657201	Caco-2	colon:	n/a
6	chr16:12657151-12657201	RPTEC	kidney:	n/a
7	chr16:12656958-12657008	ECC-1	luminal epithelium:	n/a
8	chr16:12656958-12657008	BE2_C	brain:	n/a
9	chr16:12657151-12657201	SK-N-MC	brain:	n/a
10	chr16:12656958-12657008	T-47D	breast:	n/a
11	chr16:12656958-12657008	PFSK-1	brain:	n/a
12	chr16:12656958-12657008	LNCaP	prostate:	n/a
13	chr16:12656958-12657008	AG04450	lung:	fetal
14	chr16:12657151-12657201	NT2-D1	testis:	n/a
15	chr16:12657151-12657201	GM06990	blood:	n/a
16	chr16:12657151-12657201	AG04450	lung:	fetal
17	chr16:12656958-12657008	HepG2	liver:	n/a
18	chr16:12656958-12657008	AG04449	skin:	fetal
19	chr16:12656958-12657008	HNPCEpiC	eye:	n/a
20	chr16:12656958-12657008	GM19239	blood:	n/a
21	chr16:12656958-12657008	ovcar-3	ovarian:	n/a
22	chr16:12656958-12657008	SK-N-SH	brain:	n/a
23	chr16:12656958-12657008	HUVEC	blood vessel:	n/a
24	chr16:12656958-12657008	HPAEpiC	pulmonary alveolar:	n/a
25	chr16:12656958-12657008	SKMC	muscle:	n/a
26	chr16:12656958-12657008	HRPEpiC	eye:	n/a
27	chr16:12657151-12657201	MCF-7	breast:	n/a
28	chr16:12656958-12657008	Hela-S3	cervix:	n/a
29	chr16:12656958-12657008	HCM	heart:	n/a
30	chr16:12656958-12657008	K562	blood:	n/a
31	chr16:12657151-12657201	CMK	blood:	n/a
32	chr16:12656958-12657008	ProgFib	skin:	n/a
33	chr16:12657151-12657201	HCT-116	colon:	n/a
34	chr16:12657151-12657201	AoSMC	blood vessel:	n/a
35	chr16:12657151-12657201	GM12878	blood:	n/a
36	chr16:12656958-12657008	U87	brain:	n/a
37	chr16:12656958-12657008	HEK293	kidney:	embryo
38	chr16:12657151-12657201	Jurkat	blood:	n/a
39	chr16:12657151-12657201	PANC-1	pancreas:	n/a
40	chr16:12656958-12657008	HRE	kidney:	n/a
41	chr16:12656958-12657008	Hepatocyte	liver:	n/a
42	chr16:12657151-12657201	ProgFib	skin:	n/a
43	chr16:12656958-12657008	HL-60	blood:	n/a
44	chr16:12657151-12657201	HRCEpiC	kidney:	n/a
45	chr16:12657151-12657201	HPAEpiC	pulmonary alveolar:	n/a
46	chr16:12657151-12657201	NHBE	bronchial:	n/a
47	chr16:12656958-12657008	AG10803	skin:	n/a
48	chr16:12656958-12657008	HIPEpiC	eye:	n/a
49	chr16:12656958-12657008	GM12878	blood:	n/a
50	chr16:12656958-12657008	NHDF-neo	bronchial:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:12646912..12648633-chr16:12652435..12654729,2	K562	blood:
2	chr16:12656706..12658781-chr16:12659071..12661791,2	MCF-7	breast:
3	chr16:12651809..12653725-chr16:12657374..12659013,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CPPED1-2	chr16:12654613-12655003	ENSG00000259899.1

No data

Variant related genes	Relation type
ENSG00000259876	TF binding region
ENSG00000259876	CpG island

Extended variants
information (count: 640 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:640 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7201769	chr16:12653650-12653651	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs74010795	chr16:12653653-12653654	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs187958524	chr16:12653658-12653659	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs533167222	chr16:12653661-12653662	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs192816554	chr16:12653667-12653668	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs569974293	chr16:12653672-12653673	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs528382834	chr16:12653673-12653674	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs529558766	chr16:12653685-12653686	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs549136416	chr16:12653697-12653698	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs566118932	chr16:12653698-12653699	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs535257031	chr16:12653705-12653706	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs370394343	chr16:12653721-12653722	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs546315710	chr16:12653726-12653727	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs573330031	chr16:12653743-12653744	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs184798361	chr16:12653751-12653752	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs545529767	chr16:12653752-12653753	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs536999491	chr16:12653760-12653761	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs189314035	chr16:12653773-12653774	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs180923861	chr16:12653782-12653783	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs140438982	chr16:12653785-12653786	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs553336653	chr16:12653787-12653788	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs572942134	chr16:12653798-12653799	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs545232034	chr16:12653808-12653809	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs184621639	chr16:12653816-12653817	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs116723186	chr16:12653819-12653820	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs371129451	chr16:12653822-12653823	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs543377088	chr16:12653827-12653828	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs563362637	chr16:12653834-12653835	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs369217455	chr16:12653836-12653837	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs189459959	chr16:12653843-12653844	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs13330259	chr16:12653851-12653852	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs566405959	chr16:12653861-12653862	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs11863694	chr16:12653862-12653863	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs187162723	chr16:12653867-12653868	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs571217201	chr16:12653868-12653869	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs150407496	chr16:12653878-12653879	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs7205432	chr16:12653883-12653884	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs76970942	chr16:12653898-12653899	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs536291029	chr16:12653910-12653911	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs552986946	chr16:12653919-12653920	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs368861736	chr16:12653921-12653922	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs532085162	chr16:12653926-12653927	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs149590248	chr16:12653948-12653949	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs2042914	chr16:12653960-12653961	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs558731175	chr16:12653966-12653967	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs115425249	chr16:12653992-12653993	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs144008388	chr16:12653993-12653994	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs577687892	chr16:12653997-12653998	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs375739274	chr16:12654001-12654002	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs370995226	chr16:12654011-12654012	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
T-cell prolymphocytic leukemia	19278963	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Prostate cancer	18632612	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	21858162	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	17847001	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12613000-12670800	Weak transcription	Pancreas	Pancrea
2	chr16:12632800-12663800	Weak transcription	Aorta	Aorta
3	chr16:12633400-12654400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr16:12639400-12659000	Weak transcription	Lung	lung
5	chr16:12641200-12667000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr16:12642000-12662200	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr16:12642200-12655000	Weak transcription	Spleen	Spleen
8	chr16:12643000-12659200	Weak transcription	Placenta	Placenta
9	chr16:12645200-12661600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr16:12646000-12655400	Weak transcription	Gastric	stomach
11	chr16:12646000-12659000	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr16:12646000-12661000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr16:12646200-12654800	Weak transcription	Primary T cells from cord blood	blood
14	chr16:12646200-12659800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr16:12646200-12660000	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr16:12646400-12659400	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr16:12646400-12660800	Weak transcription	Thymus	Thymus
18	chr16:12647400-12658800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr16:12647400-12662200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr16:12647400-12665200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr16:12647600-12661600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr16:12648000-12662200	Weak transcription	Fetal Stomach	stomach
23	chr16:12648400-12668800	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr16:12648800-12659200	Weak transcription	Esophagus	oesophagus
25	chr16:12649000-12658600	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr16:12649800-12662200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr16:12652000-12654400	Weak transcription	GM12878-XiMat	blood
28	chr16:12652200-12660200	Strong transcription	Primary B cells from cord blood	blood
29	chr16:12652200-12669200	Weak transcription	Brain Cingulate Gyrus	brain
30	chr16:12652400-12658200	Strong transcription	Primary B cells from peripheral blood	blood
31	chr16:12652400-12666400	Weak transcription	Brain Anterior Caudate	brain
32	chr16:12652600-12665800	Weak transcription	Brain Angular Gyrus	brain
33	chr16:12652600-12672200	Weak transcription	Right Ventricle	heart
34	chr16:12652800-12653800	Enhancers	NHDF-Ad	bronchial
35	chr16:12652800-12663400	Weak transcription	Brain Substantia Nigra	brain
36	chr16:12653000-12653800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr16:12653200-12659200	Weak transcription	Adipose Nuclei	Adipose
38	chr16:12653200-12662200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr16:12653200-12667600	Weak transcription	Brain Hippocampus Middle	brain
40	chr16:12653200-12669200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr16:12653400-12653800	Enhancers	Osteobl	bone
42	chr16:12653400-12659800	Weak transcription	Ovary	ovary
43	chr16:12653600-12659000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr16:12653600-12662400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr16:12653600-12662600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr16:12653600-12663200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr16:12653800-12662600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr16:12653800-12665800	Weak transcription	NHDF-Ad	bronchial
49	chr16:12654400-12655400	Strong transcription	GM12878-XiMat	blood
50	chr16:12654400-12655600	Strong transcription	Stomach Smooth Muscle	stomach

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