Variant report

Variant	nsv975486
Chromosome Location	chr12:50247649-50259548
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:61)
Chromatin interactive
region (count:9)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr12:50248773-50249062	HepG2	liver:	n/a	n/a
2	CTCF	chr12:50248480-50248630	HepG2	liver:	n/a	n/a
3	CTCF	chr12:50253174-50253206	GM13976	blood:	n/a	n/a
4	CTCF	chr12:50258540-50258690	GM12864	blood:	n/a	n/a
5	FOS	chr12:50256185-50256273	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr12:50256210-50256263	MCF10A-Er-Src	breast:	n/a	n/a
7	FOXA1	chr12:50256948-50257315	HepG2	liver:	n/a	n/a
8	GATA2	chr12:50255445-50255772	K562	blood:	n/a	n/a
9	MAFF	chr12:50256936-50257036	HepG2	liver:	n/a	chr12:50256981-50256999
10	MAX	chr12:50258098-50258494	ECC-1	luminal epithelium:	n/a	n/a
11	NR2F2	chr12:50255338-50255762	K562	blood:	n/a	n/a
12	NR2F2	chr12:50255293-50255943	K562	blood:	n/a	n/a
13	NR3C1	chr12:50248571-50248812	A549	lung:	n/a	n/a
14	NR3C1	chr12:50248533-50248959	A549	lung:	n/a	n/a
15	NR3C1	chr12:50248424-50248909	A549	lung:	n/a	n/a
16	NR3C1	chr12:50248542-50248869	A549	lung:	n/a	n/a
17	NR3C1	chr12:50254736-50255150	A549	lung:	n/a	n/a
18	POLR2A	chr12:50248950-50248972	MCF10A-Er-Src	breast:	n/a	n/a
19	STAT3	chr12:50257894-50258012	MCF10A-Er-Src	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:50254150-50254200	SK-N-SH_RA	brain:	n/a
2	chr12:50254150-50254200	RPTEC	kidney:	n/a
3	chr12:50254150-50254200	ECC-1	luminal epithelium:	n/a
4	chr12:50254150-50254200	NHDF-neo	bronchial:	n/a
5	chr12:50254150-50254200	PANC-1	pancreas:	n/a
6	chr12:50254150-50254200	HepG2	liver:	n/a
7	chr12:50254150-50254200	HCM	heart:	n/a
8	chr12:50254150-50254200	HRE	kidney:	n/a
9	chr12:50254150-50254200	MCF10A-Er-Src	breast:	n/a
10	chr12:50254150-50254200	AG04449	skin:	fetal
11	chr12:50254150-50254200	Jurkat	blood:	n/a
12	chr12:50254150-50254200	AG09309	skin:	n/a
13	chr12:50254150-50254200	K562	blood:	n/a
14	chr12:50254150-50254200	HPAEpiC	pulmonary alveolar:	n/a
15	chr12:50254150-50254200	NT2-D1	testis:	n/a
16	chr12:50254150-50254200	Caco-2	colon:	n/a
17	chr12:50254150-50254200	ovcar-3	ovarian:	n/a
18	chr12:50254150-50254200	LNCaP	prostate:	n/a
19	chr12:50254150-50254200	HL-60	blood:	n/a
20	chr12:50254150-50254200	HCPEpiC	choroid plexus:	n/a
21	chr12:50254150-50254200	SK-N-MC	brain:	n/a
22	chr12:50254150-50254200	PFSK-1	brain:	n/a
23	chr12:50254150-50254200	GM19239	blood:	n/a
24	chr12:50254150-50254200	HCT-116	colon:	n/a
25	chr12:50254150-50254200	ProgFib	skin:	n/a
26	chr12:50254150-50254200	HAEpiC	amniotic membrane:	n/a
27	chr12:50254150-50254200	AoSMC	blood vessel:	n/a
28	chr12:50254150-50254200	GM12892	blood:	n/a
29	chr12:50254150-50254200	HEEpiC	esophagus:	n/a
30	chr12:50254150-50254200	H1-hESC	embryonic stem cell:	embryo
31	chr12:50254150-50254200	GM12891	blood:	n/a
32	chr12:50254150-50254200	SKMC	muscle:	n/a
33	chr12:50254150-50254200	Hepatocyte	liver:	n/a
34	chr12:50254150-50254200	NB4	blood:	n/a
35	chr12:50254150-50254200	HMEC	breast:	n/a
36	chr12:50254150-50254200	HRCEpiC	kidney:	n/a
37	chr12:50254150-50254200	T-47D	breast:	n/a
38	chr12:50254150-50254200	A549	lung:	n/a
39	chr12:50254150-50254200	NHBE	bronchial:	n/a
40	chr12:50254150-50254200	HUVEC	blood vessel:	n/a
41	chr12:50254150-50254200	CMK	blood:	n/a
42	chr12:50254150-50254200	HIPEpiC	eye:	n/a
43	chr12:50254150-50254200	AG04450	lung:	fetal
44	chr12:50254150-50254200	BJ	skin:	n/a
45	chr12:50254150-50254200	U87	brain:	n/a
46	chr12:50254150-50254200	NH-A	brain:	n/a
47	chr12:50254150-50254200	SAEC	small airway:	n/a
48	chr12:50254150-50254200	GM12878	blood:	n/a
49	chr12:50254150-50254200	HNPCEpiC	eye:	n/a
50	chr12:50254150-50254200	IMR90	lung:	fetal

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

No.	Distal block	Cell Line	Cell type
1	chr12:50258046..50259934-chr12:50399287..50401649,2	MCF-7	breast:
2	chr12:50235169..50237723-chr12:50247848..50250298,2	MCF-7	breast:
3	chr12:50170376..50172143-chr12:50258394..50260601,2	K562	blood:
4	chr12:50257354..50258880-chr12:50284102..50286835,2	K562	blood:
5	chr12:50257760..50259370-chr12:50261533..50263034,2	MCF-7	breast:
6	chr12:50242107..50244595-chr12:50247225..50249160,2	K562	blood:
7	chr12:50259475..50261235-chr12:50302095..50303974,2	MCF-7	breast:
8	chr12:50258974..50260618-chr12:50366779..50369622,2	MCF-7	breast:
9	chr12:50259278..50261065-chr12:50464788..50467159,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AQP2-2	chr12:50259335-50259528	ENSG00000257253
2	lnc-AQP2-2	chr12:50257834-50257980	ENSG00000257253
3	lnc-AQP2-2	chr12:50254990-50255012	ENSG00000257253
4	lnc-AQP2-2	chr12:50258932-50259232	ENSG00000257253

No data

Variant related genes	Relation type
ENSG00000257253	TF binding region
ENSG00000242041	TF binding region
ENSG00000257253	CpG island
ENSG00000242041	CpG island
ENSG00000186666	chromatin interactions

Extended variants
information (count: 464 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:464 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373110273	chr12:50247676-50247677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529985446	chr12:50247716-50247717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546482041	chr12:50247743-50247744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553566815	chr12:50247797-50247798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565745560	chr12:50247892-50247893	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs369513355	chr12:50247898-50247899	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs367988032	chr12:50247921-50247922	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs149631571	chr12:50248007-50248008	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs551608291	chr12:50248013-50248014	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs571683092	chr12:50248027-50248028	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs10875984	chr12:50248043-50248044	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs11169182	chr12:50248052-50248053	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs574278804	chr12:50248068-50248069	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs372960596	chr12:50248072-50248073	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs144061143	chr12:50248075-50248076	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs11169183	chr12:50248082-50248083	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs148623553	chr12:50248092-50248093	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs564843880	chr12:50248094-50248095	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs575331087	chr12:50248118-50248119	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs564851180	chr12:50248130-50248131	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs142067311	chr12:50248142-50248143	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs560789433	chr12:50248184-50248185	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs529799904	chr12:50248187-50248188	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs114545729	chr12:50248288-50248289	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs559990028	chr12:50248315-50248316	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs11169184	chr12:50248345-50248346	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs551789072	chr12:50248363-50248364	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs115601225	chr12:50248373-50248374	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs151134493	chr12:50248447-50248448	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs76087499	chr12:50248473-50248474	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs567865599	chr12:50248502-50248503	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs554334758	chr12:50248519-50248520	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs527839812	chr12:50248555-50248556	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs7953118	chr12:50248724-50248725	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs80291741	chr12:50248726-50248727	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs140406460	chr12:50248750-50248751	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs538947006	chr12:50248773-50248774	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs558571446	chr12:50248786-50248787	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs115516613	chr12:50248806-50248807	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs182525988	chr12:50248830-50248831	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs187111087	chr12:50248832-50248833	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs189898256	chr12:50248871-50248872	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs180807608	chr12:50248874-50248875	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs544304602	chr12:50248990-50248991	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs563564175	chr12:50249067-50249068	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs554196475	chr12:50249103-50249104	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs192157881	chr12:50249161-50249162	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs376938705	chr12:50249184-50249185	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs540006926	chr12:50249226-50249227	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs559902544	chr12:50249302-50249303	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Cancer	17160897	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50237600-50261200	Weak transcription	Right Atrium	heart
2	chr12:50247000-50247800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:50248600-50248800	Bivalent Enhancer	HepG2	liver
4	chr12:50248600-50249400	Enhancers	Stomach Mucosa	stomach
5	chr12:50253600-50253800	Bivalent Enhancer	Osteobl	bone
6	chr12:50253600-50254000	Bivalent Enhancer	NHEK	skin
7	chr12:50254000-50254200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:50256800-50257600	Bivalent Enhancer	HepG2	liver
9	chr12:50257200-50257400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:50257200-50258000	Enhancers	Fetal Intestine Large	intestine
11	chr12:50257200-50258400	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr12:50257200-50258600	Enhancers	Fetal Lung	lung
13	chr12:50257400-50257600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:50257400-50258000	Enhancers	Fetal Intestine Small	intestine
15	chr12:50257400-50259000	Enhancers	Fetal Muscle Leg	muscle
16	chr12:50257800-50258400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:50257800-50258400	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
18	chr12:50257800-50258400	Enhancers	Brain Cingulate Gyrus	brain
19	chr12:50257800-50258600	Enhancers	Esophagus	oesophagus
20	chr12:50257800-50258600	Enhancers	HSMM	muscle
21	chr12:50257800-50258800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:50257800-50259800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr12:50258000-50258200	Enhancers	HSMMtube	muscle
24	chr12:50258000-50258400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr12:50258000-50258600	Enhancers	Brain Hippocampus Middle	brain
26	chr12:50258000-50258600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr12:50258000-50261200	Weak transcription	Fetal Intestine Large	intestine
28	chr12:50258200-50258600	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr12:50258200-50258600	Flanking Active TSS	HSMMtube	muscle
30	chr12:50258200-50258800	Bivalent Enhancer	Brain Germinal Matrix	brain
31	chr12:50258200-50260000	Enhancers	Fetal Brain Male	brain
32	chr12:50258400-50258600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr12:50258400-50258600	Enhancers	Fetal Heart	heart
34	chr12:50258400-50258600	Enhancers	Hela-S3	cervix
35	chr12:50258400-50260800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr12:50258400-50260800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr12:50258400-50261000	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr12:50258600-50258800	Enhancers	Fetal Brain Female	brain
39	chr12:50258600-50259200	Enhancers	HSMMtube	muscle
40	chr12:50258600-50260600	Weak transcription	Brain Hippocampus Middle	brain
41	chr12:50258600-50260600	Weak transcription	HSMM	muscle
42	chr12:50258600-50260800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr12:50258600-50260800	Weak transcription	Esophagus	oesophagus
44	chr12:50258600-50261000	Weak transcription	Fetal Heart	heart
45	chr12:50258800-50260600	Weak transcription	Fetal Brain Female	brain
46	chr12:50259000-50259200	Bivalent Enhancer	Fetal Muscle Leg	muscle
47	chr12:50259200-50259600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr12:50259200-50260600	Weak transcription	HSMMtube	muscle

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