Variant report

Variant	nsv528952
Chromosome Location	chr16:12222064-12234877
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr16:12226116-12226508	GM12878	blood:	n/a	n/a
2	BCL3	chr16:12227549-12227967	GM12878	blood:	n/a	n/a
3	CEBPB	chr16:12226214-12226490	K562	blood:	n/a	chr16:12226341-12226352
4	CEBPB	chr16:12226166-12226528	IMR90	lung:	n/a	chr16:12226341-12226352
5	CEBPB	chr16:12226297-12226442	HepG2	liver:	n/a	chr16:12226341-12226352
6	CTCF	chr16:12231181-12231305	K562	blood:	n/a	chr16:12231254-12231270
7	CTCF	chr16:12231150-12231353	HepG2	liver:	n/a	chr16:12231254-12231270
8	CTCF	chr16:12231140-12231290	HepG2	liver:	n/a	chr16:12231254-12231270
9	CTCF	chr16:12229160-12229310	GM06990	blood:	n/a	n/a
10	ELF1	chr16:12234165-12234487	GM12878	blood:	n/a	n/a
11	FOXA1	chr16:12231149-12231505	HepG2	liver:	n/a	chr16:12231303-12231315
12	GATA3	chr16:12222929-12223369	SH-SY5Y	brain:	n/a	n/a
13	JUND	chr16:12226330-12226492	HepG2	liver:	n/a	n/a
14	MAFF	chr16:12225632-12225990	HepG2	liver:	n/a	n/a
15	MAFK	chr16:12225625-12225967	HepG2	liver:	n/a	chr16:12225920-12225936
16	MAFK	chr16:12226309-12226506	IMR90	lung:	n/a	n/a
17	MAFK	chr16:12225629-12225990	HepG2	liver:	n/a	chr16:12225920-12225936
18	MAFK	chr16:12225636-12225983	IMR90	lung:	n/a	chr16:12225920-12225936
19	MAFK	chr16:12225666-12225917	Hela-S3	cervix:	n/a	n/a
20	MAFK	chr16:12225662-12225956	K562	blood:	n/a	chr16:12225920-12225936
21	MAX	chr16:12226247-12226496	NB4	blood:	n/a	n/a
22	MYC	chr16:12226339-12226500	NB4	blood:	n/a	n/a
23	NR3C1	chr16:12231224-12231622	A549	lung:	n/a	n/a
24	NR3C1	chr16:12231265-12231513	A549	lung:	n/a	n/a
25	NR3C1	chr16:12231188-12231542	A549	lung:	n/a	n/a
26	PBX3	chr16:12226203-12226352	GM12878	blood:	n/a	n/a
27	PBX3	chr16:12227598-12227901	GM12878	blood:	n/a	n/a
28	POLR2A	chr16:12224652-12224752	GM12878	blood:	n/a	n/a
29	POLR2A	chr16:12233254-12233268	K562	blood:	n/a	n/a
30	POLR2A	chr16:12225252-12225334	GM12878	blood:	n/a	n/a
31	POLR2A	chr16:12222753-12222762	GM12878	blood:	n/a	n/a
32	RAD21	chr16:12224371-12224561	HepG2	liver:	n/a	n/a
33	RAD21	chr16:12231206-12231307	H1-hESC	embryonic stem cell:	n/a	n/a
34	STAT3	chr16:12227817-12228017	MCF10A-Er-Src	breast:	n/a	n/a
35	ZNF384	chr16:12227114-12227234	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:12226852-12226902	AoSMC	blood vessel:	n/a
2	chr16:12226852-12226902	HCT-116	colon:	n/a
3	chr16:12226852-12226902	CMK	blood:	n/a
4	chr16:12226852-12226902	Caco-2	colon:	n/a
5	chr16:12226852-12226902	HRE	kidney:	n/a
6	chr16:12226852-12226902	H1-hESC	embryonic stem cell:	embryo
7	chr16:12226852-12226902	HepG2	liver:	n/a
8	chr16:12226852-12226902	SKMC	muscle:	n/a
9	chr16:12226852-12226902	AG10803	skin:	n/a
10	chr16:12226852-12226902	HEEpiC	esophagus:	n/a
11	chr16:12226852-12226902	NT2-D1	testis:	n/a
12	chr16:12226852-12226902	AG04449	skin:	fetal
13	chr16:12226852-12226902	NHBE	bronchial:	n/a
14	chr16:12226852-12226902	GM12891	blood:	n/a
15	chr16:12226852-12226902	RPTEC	kidney:	n/a
16	chr16:12226852-12226902	MCF-7	breast:	n/a
17	chr16:12226852-12226902	SK-N-MC	brain:	n/a
18	chr16:12226852-12226902	ProgFib	skin:	n/a
19	chr16:12226852-12226902	ECC-1	luminal epithelium:	n/a
20	chr16:12226852-12226902	GM12892	blood:	n/a
21	chr16:12226852-12226902	HPAEpiC	pulmonary alveolar:	n/a
22	chr16:12226852-12226902	NHDF-neo	bronchial:	n/a
23	chr16:12226852-12226902	BE2_C	brain:	n/a
24	chr16:12226852-12226902	BJ	skin:	n/a
25	chr16:12226852-12226902	HUVEC	blood vessel:	n/a
26	chr16:12226852-12226902	HNPCEpiC	eye:	n/a
27	chr16:12226852-12226902	GM06990	blood:	n/a
28	chr16:12226852-12226902	HCPEpiC	choroid plexus:	n/a
29	chr16:12226852-12226902	PrEC	prostate:	n/a
30	chr16:12226852-12226902	GM19239	blood:	n/a
31	chr16:12226852-12226902	HRPEpiC	eye:	n/a
32	chr16:12226852-12226902	HRCEpiC	kidney:	n/a
33	chr16:12226852-12226902	SK-N-SH	brain:	n/a
34	chr16:12226852-12226902	AG09309	skin:	n/a
35	chr16:12226852-12226902	PANC-1	pancreas:	n/a
36	chr16:12226852-12226902	HIPEpiC	eye:	n/a
37	chr16:12226852-12226902	HMEC	breast:	n/a
38	chr16:12226852-12226902	NH-A	brain:	n/a
39	chr16:12226852-12226902	HCM	heart:	n/a
40	chr16:12226852-12226902	Hepatocyte	liver:	n/a
41	chr16:12226852-12226902	HL-60	blood:	n/a
42	chr16:12226852-12226902	GM12878	blood:	n/a
43	chr16:12226852-12226902	ovcar-3	ovarian:	n/a
44	chr16:12226852-12226902	PFSK-1	brain:	n/a
45	chr16:12226852-12226902	K562	blood:	n/a
46	chr16:12226852-12226902	A549	lung:	n/a
47	chr16:12226852-12226902	HAEpiC	amniotic membrane:	n/a
48	chr16:12226852-12226902	NB4	blood:	n/a
49	chr16:12226852-12226902	AG09319	gingival:	n/a
50	chr16:12226852-12226902	HEK293	kidney:	embryo

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:12225063..12228356-chr16:12228504..12231414,3	K562	blood:
2	chr16:12213304..12215275-chr16:12226853..12228529,2	MCF-7	breast:
3	chr16:12225063..12228356-chr16:12228504..12231414,3	K562	blood:
4	chr16:12231008..12232542-chr16:12255971..12258594,2	K562	blood:

No data

Variant related genes	Relation type
SNX29	TF binding region
SNX29	CpG island

Extended variants
information (count: 672 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:672 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4238614	chr16:12222064-12222065	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs8059117	chr16:12222065-12222066	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376045522	chr16:12222099-12222100	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537562015	chr16:12222101-12222102	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140280390	chr16:12222127-12222128	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539576109	chr16:12222150-12222151	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs76435513	chr16:12222151-12222152	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536507292	chr16:12222213-12222214	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs1632455	chr16:12222225-12222226	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs73517899	chr16:12222254-12222255	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs12598569	chr16:12222297-12222298	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs374745349	chr16:12222304-12222305	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368751416	chr16:12222306-12222307	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572409245	chr16:12222309-12222310	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35504724	chr16:12222310-12222311	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs397752127	chr16:12222327-12222328	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375049966	chr16:12222332-12222333	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564551425	chr16:12222354-12222355	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs71408241	chr16:12222357-12222358	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574966708	chr16:12222364-12222365	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543905886	chr16:12222373-12222374	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs59875018	chr16:12222378-12222379	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs137882106	chr16:12222402-12222403	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141605153	chr16:12222468-12222469	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183366204	chr16:12222498-12222499	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112478583	chr16:12222529-12222530	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528461201	chr16:12222569-12222570	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551765571	chr16:12222576-12222577	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187081465	chr16:12222604-12222605	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370580874	chr16:12222635-12222636	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190231725	chr16:12222636-12222637	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12149562	chr16:12222651-12222652	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs367989640	chr16:12222659-12222660	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567751089	chr16:12222665-12222666	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs34860603	chr16:12222676-12222677	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs397719651	chr16:12222677-12222678	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs75040962	chr16:12222717-12222718	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138629067	chr16:12222745-12222746	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs149304764	chr16:12222755-12222756	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs538966327	chr16:12222756-12222757	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs558083107	chr16:12222808-12222809	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182815469	chr16:12222853-12222854	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs73517900	chr16:12222855-12222856	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs554695420	chr16:12222927-12222928	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554440205	chr16:12222931-12222932	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs369800745	chr16:12223042-12223043	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs374386044	chr16:12223077-12223078	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs574526780	chr16:12223093-12223094	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs540456880	chr16:12223112-12223113	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs560104732	chr16:12223115-12223116	Weak transcription Strong transcription	TF binding region	1 gene(s)	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21858162	CNVD

Chromatin state (count:455 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12184400-12231200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr16:12191200-12223200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr16:12198200-12227800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr16:12208200-12228000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr16:12208600-12226800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr16:12211000-12224400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr16:12211000-12227800	Weak transcription	Fetal Intestine Small	intestine
8	chr16:12211200-12223200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr16:12211200-12223400	Weak transcription	Aorta	Aorta
10	chr16:12211200-12224400	Weak transcription	Pancreas	Pancrea
11	chr16:12211200-12226200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr16:12213200-12232600	Weak transcription	Colonic Mucosa	Colon
13	chr16:12213800-12226600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr16:12213800-12228200	Weak transcription	Lung	lung
15	chr16:12213800-12228400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr16:12213800-12231400	Weak transcription	Small Intestine	intestine
17	chr16:12213800-12255400	Weak transcription	Gastric	stomach
18	chr16:12214000-12226400	Weak transcription	HSMM	muscle
19	chr16:12214000-12228000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr16:12214400-12224600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr16:12214600-12224200	Weak transcription	Brain Angular Gyrus	brain
22	chr16:12215000-12226800	Weak transcription	Ovary	ovary
23	chr16:12215000-12227600	Weak transcription	Stomach Smooth Muscle	stomach
24	chr16:12215000-12227800	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr16:12215000-12228200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr16:12215000-12233200	Weak transcription	Fetal Lung	lung
27	chr16:12215200-12229200	Weak transcription	NHDF-Ad	bronchial
28	chr16:12215400-12222600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr16:12215400-12228000	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr16:12215400-12228200	Weak transcription	Left Ventricle	heart
31	chr16:12215400-12231000	Weak transcription	HepG2	liver
32	chr16:12215400-12241600	Weak transcription	NH-A	brain
33	chr16:12215600-12226400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr16:12215600-12226600	Weak transcription	NHLF	lung
35	chr16:12215600-12228000	Weak transcription	Fetal Muscle Leg	muscle
36	chr16:12215600-12228200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr16:12215600-12228200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr16:12215600-12234000	Weak transcription	Right Ventricle	heart
39	chr16:12215600-12234400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr16:12217800-12241800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr16:12218600-12222800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr16:12218600-12228000	Weak transcription	Fetal Muscle Trunk	muscle
43	chr16:12218600-12241200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr16:12218800-12241000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr16:12219000-12226200	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr16:12219200-12223200	Weak transcription	Fetal Stomach	stomach
47	chr16:12219200-12225800	Weak transcription	Rectal Smooth Muscle	rectum
48	chr16:12219200-12228400	Weak transcription	Fetal Kidney	kidney
49	chr16:12219400-12223200	Weak transcription	Spleen	Spleen
50	chr16:12219400-12226400	Weak transcription	Colon Smooth Muscle	Colon

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