Variant report

Variant	nsv973125
Chromosome Location	chr12:118681868-118685795
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:54)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:54 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:118683178-118683199	GM10266	blood:	n/a	n/a
2	EBF1	chr12:118684403-118684612	GM12878	blood:	n/a	n/a
3	GATA2	chr12:118684366-118684677	K562	blood:	n/a	n/a
4	HEY1	chr12:118683853-118684154	K562	blood:	n/a	n/a
5	HEY1	chr12:118683805-118684708	K562	blood:	n/a	n/a
6	HEY1	chr12:118684206-118684704	K562	blood:	n/a	n/a
7	HEY1	chr12:118684383-118684515	HepG2	liver:	n/a	n/a
8	HEY1	chr12:118683885-118684083	HepG2	liver:	n/a	n/a
9	IRF4	chr12:118684222-118684515	GM12878	blood:	n/a	n/a
10	JUN	chr12:118683688-118683794	HepG2	liver:	n/a	chr12:118683724-118683737
11	MYC	chr12:118681990-118682047	MCF-7	breast:	n/a	n/a
12	NR3C1	chr12:118684131-118684707	A549	lung:	n/a	n/a
13	PAX5	chr12:118683881-118684110	GM12878	blood:	n/a	n/a
14	POLR2A	chr12:118683828-118684745	GM12891	blood:	n/a	n/a
15	POLR2A	chr12:118684206-118684598	A549	lung:	n/a	n/a
16	POLR2A	chr12:118683783-118684748	GM12892	blood:	n/a	n/a
17	POLR2A	chr12:118683823-118684712	GM12891	blood:	n/a	n/a
18	POLR2A	chr12:118683789-118684712	GM12878	blood:	n/a	n/a
19	POLR2A	chr12:118682001-118682113	HepG2	liver:	n/a	n/a
20	POLR2A	chr12:118683844-118684696	GM12891	blood:	n/a	n/a
21	POLR2A	chr12:118683718-118684760	GM12892	blood:	n/a	n/a
22	POLR2A	chr12:118681985-118682016	K562	blood:	n/a	n/a
23	POLR2A	chr12:118681936-118681970	K562	blood:	n/a	n/a
24	POLR2A	chr12:118683845-118684709	GM12892	blood:	n/a	n/a
25	POLR2A	chr12:118684267-118684645	SK-N-MC	brain:	n/a	n/a
26	POLR2A	chr12:118684204-118684643	GM12878	blood:	n/a	n/a
27	POLR2A	chr12:118683797-118684838	GM12892	blood:	n/a	n/a
28	POLR2A	chr12:118681884-118682124	K562	blood:	n/a	n/a
29	POLR2A	chr12:118683887-118684053	A549	lung:	n/a	n/a
30	POLR2A	chr12:118683876-118684220	GM12891	blood:	n/a	n/a
31	POLR2A	chr12:118682668-118682810	K562	blood:	n/a	n/a
32	POLR2A	chr12:118683831-118684221	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr12:118681984-118682094	MCF-7	breast:	n/a	n/a
34	POLR2A	chr12:118683850-118684704	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr12:118683742-118684741	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr12:118683832-118684201	GM12878	blood:	n/a	n/a
37	POLR2A	chr12:118683811-118684792	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr12:118683782-118684892	GM12878	blood:	n/a	n/a
39	POLR2A	chr12:118683884-118684574	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr12:118683889-118684162	A549	lung:	n/a	n/a
41	POLR2A	chr12:118681951-118682026	A549	lung:	n/a	n/a
42	POLR2A	chr12:118683824-118684182	A549	lung:	n/a	n/a
43	POLR2A	chr12:118683986-118684749	PFSK-1	brain:	n/a	n/a
44	POLR2A	chr12:118684270-118684525	A549	lung:	n/a	n/a
45	POLR2A	chr12:118683878-118684711	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr12:118683868-118684637	GM12878	blood:	n/a	n/a
47	POU2F2	chr12:118683808-118684651	GM12891	blood:	n/a	n/a
48	POU2F2	chr12:118684113-118684657	GM12878	blood:	n/a	n/a
49	REST	chr12:118684262-118684601	PANC-1	pancreas:	n/a	n/a
50	SIX5	chr12:118684251-118684465	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:118683952-118684002	PANC-1	pancreas:	n/a
2	chr12:118683952-118684002	AG10803	skin:	n/a
3	chr12:118683952-118684002	MCF10A-Er-Src	breast:	n/a
4	chr12:118683952-118684002	K562	blood:	n/a
5	chr12:118683952-118684002	GM12891	blood:	n/a
6	chr12:118683952-118684002	HNPCEpiC	eye:	n/a
7	chr12:118683952-118684002	BJ	skin:	n/a
8	chr12:118683952-118684002	NB4	blood:	n/a
9	chr12:118683952-118684002	AG04450	lung:	fetal
10	chr12:118683952-118684002	SK-N-SH_RA	brain:	n/a
11	chr12:118683952-118684002	SK-N-MC	brain:	n/a
12	chr12:118683952-118684002	AG09319	gingival:	n/a
13	chr12:118683952-118684002	GM19239	blood:	n/a
14	chr12:118683952-118684002	Jurkat	blood:	n/a
15	chr12:118683952-118684002	HEK293	kidney:	embryo
16	chr12:118683952-118684002	AG09309	skin:	n/a
17	chr12:118683952-118684002	Hepatocyte	liver:	n/a
18	chr12:118683952-118684002	A549	lung:	n/a
19	chr12:118683952-118684002	HCT-116	colon:	n/a
20	chr12:118683952-118684002	HepG2	liver:	n/a
21	chr12:118683952-118684002	BE2_C	brain:	n/a
22	chr12:118683952-118684002	LNCaP	prostate:	n/a
23	chr12:118683952-118684002	HMEC	breast:	n/a
24	chr12:118683952-118684002	RPTEC	kidney:	n/a
25	chr12:118683952-118684002	T-47D	breast:	n/a
26	chr12:118683952-118684002	GM12892	blood:	n/a
27	chr12:118683952-118684002	SAEC	small airway:	n/a
28	chr12:118683952-118684002	NH-A	brain:	n/a
29	chr12:118683952-118684002	HCPEpiC	choroid plexus:	n/a
30	chr12:118683952-118684002	GM12878	blood:	n/a
31	chr12:118683952-118684002	HCM	heart:	n/a
32	chr12:118683952-118684002	Hela-S3	cervix:	n/a
33	chr12:118683952-118684002	NT2-D1	testis:	n/a
34	chr12:118683952-118684002	AG04449	skin:	fetal
35	chr12:118683952-118684002	HPAEpiC	pulmonary alveolar:	n/a
36	chr12:118683952-118684002	NHDF-neo	bronchial:	n/a
37	chr12:118683952-118684002	HRPEpiC	eye:	n/a
38	chr12:118683952-118684002	SKMC	muscle:	n/a
39	chr12:118683952-118684002	PrEC	prostate:	n/a
40	chr12:118683952-118684002	H1-hESC	embryonic stem cell:	embryo
41	chr12:118683952-118684002	HEEpiC	esophagus:	n/a
42	chr12:118683952-118684002	SK-N-SH	brain:	n/a
43	chr12:118683952-118684002	HAEpiC	amniotic membrane:	n/a
44	chr12:118683952-118684002	IMR90	lung:	fetal
45	chr12:118683952-118684002	PFSK-1	brain:	n/a
46	chr12:118683952-118684002	NHBE	bronchial:	n/a
47	chr12:118683952-118684002	HUVEC	blood vessel:	n/a
48	chr12:118683952-118684002	U87	brain:	n/a
49	chr12:118683952-118684002	HRCEpiC	kidney:	n/a
50	chr12:118683952-118684002	ECC-1	luminal epithelium:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:118685088..118687913-chr12:118695342..118697547,2	MCF-7	breast:

No data

Variant related genes	Relation type
RPS2P5	TF binding region
TAOK3	TF binding region
RPS2P5	CpG island
TAOK3	CpG island

Extended variants
information (count: 172 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:172 , 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	rs79792397	chr12:118681894-118681895	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs577102463	chr12:118681949-118681950	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs569164735	chr12:118681992-118681993	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs370157426	chr12:118682020-118682021	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs530938092	chr12:118682184-118682185	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550947833	chr12:118682185-118682186	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs35051232	chr12:118682279-118682280	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75714380	chr12:118682287-118682288	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377072006	chr12:118682332-118682333	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545086117	chr12:118682335-118682336	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547281739	chr12:118682338-118682339	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs71069434	chr12:118682339-118682340	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556346891	chr12:118682342-118682343	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs75138193	chr12:118682349-118682350	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371283483	chr12:118682364-118682365	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539956337	chr12:118682439-118682440	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373508466	chr12:118682444-118682445	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546755012	chr12:118682457-118682458	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567098631	chr12:118682478-118682479	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189693880	chr12:118682479-118682480	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541911145	chr12:118682481-118682482	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11068882	chr12:118682492-118682493	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs537472813	chr12:118682573-118682574	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557705211	chr12:118682576-118682577	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577552160	chr12:118682580-118682581	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111828495	chr12:118682585-118682586	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559988693	chr12:118682591-118682592	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543709783	chr12:118682617-118682618	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542802796	chr12:118682624-118682625	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562774569	chr12:118682630-118682631	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs199584747	chr12:118682649-118682650	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201155311	chr12:118682693-118682694	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs551685375	chr12:118682729-118682730	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs564531727	chr12:118682737-118682738	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs428073	chr12:118682751-118682752	Weak transcription Strong transcription	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs552194108	chr12:118682787-118682788	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
37	rs375327389	chr12:118682815-118682816	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566810664	chr12:118682822-118682823	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535652829	chr12:118682829-118682830	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549134599	chr12:118682863-118682864	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563474491	chr12:118682940-118682941	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs148112351	chr12:118682980-118682981	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs111426297	chr12:118682986-118682987	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577616736	chr12:118682999-118683000	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375250035	chr12:118683047-118683048	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564793990	chr12:118683054-118683055	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs150603893	chr12:118683060-118683061	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370843597	chr12:118683165-118683166	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542865931	chr12:118683186-118683187	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
50	rs562706119	chr12:118683232-118683233	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Neuroblastoma	20406844	CNVD
Medulloblastoma	16783165	CNVD
mental retardation	16760730	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Lung adenocarcinoma	21045234	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Pancreatic cancer	17952125	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:131 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118621000-118682600	Weak transcription	A549	lung
2	chr12:118628400-118697200	Weak transcription	Psoas Muscle	Psoas
3	chr12:118636800-118695000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr12:118637200-118700600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr12:118637200-118700800	Weak transcription	Fetal Muscle Leg	muscle
6	chr12:118637400-118684200	Weak transcription	Pancreas	Pancrea
7	chr12:118637400-118694200	Weak transcription	Brain Angular Gyrus	brain
8	chr12:118637400-118701400	Weak transcription	Spleen	Spleen
9	chr12:118637400-118703800	Weak transcription	Esophagus	oesophagus
10	chr12:118637400-118724000	Weak transcription	Aorta	Aorta
11	chr12:118638800-118687800	Weak transcription	Gastric	stomach
12	chr12:118650400-118690400	Weak transcription	Stomach Mucosa	stomach
13	chr12:118652200-118727800	Weak transcription	NHLF	lung
14	chr12:118658000-118685400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr12:118659000-118693800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr12:118666800-118701000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr12:118667200-118704600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:118669000-118709000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr12:118669000-118725200	Weak transcription	K562	blood
20	chr12:118671200-118701800	Weak transcription	Right Ventricle	heart
21	chr12:118671400-118683400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr12:118673200-118698800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr12:118673200-118701600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr12:118673400-118688200	Weak transcription	Brain Substantia Nigra	brain
25	chr12:118673400-118692000	Weak transcription	Brain Anterior Caudate	brain
26	chr12:118673400-118705400	Weak transcription	Colonic Mucosa	Colon
27	chr12:118673400-118710400	Weak transcription	Placenta	Placenta
28	chr12:118673400-118737600	Weak transcription	Brain Hippocampus Middle	brain
29	chr12:118673600-118712000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr12:118673800-118691400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr12:118673800-118694200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr12:118673800-118703000	Weak transcription	Thymus	Thymus
33	chr12:118673800-118709200	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr12:118673800-118737800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr12:118674000-118684200	Weak transcription	Colon Smooth Muscle	Colon
36	chr12:118674000-118687400	Weak transcription	Small Intestine	intestine
37	chr12:118674000-118692000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr12:118674000-118700800	Weak transcription	Stomach Smooth Muscle	stomach
39	chr12:118674000-118706200	Weak transcription	Left Ventricle	heart
40	chr12:118674000-118726200	Weak transcription	Lung	lung
41	chr12:118675200-118692200	Weak transcription	Osteobl	bone
42	chr12:118675400-118691600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr12:118676000-118683400	Weak transcription	HepG2	liver
44	chr12:118676000-118688200	Weak transcription	Fetal Thymus	thymus
45	chr12:118676000-118692000	Weak transcription	Adipose Nuclei	Adipose
46	chr12:118676000-118745200	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr12:118676200-118692000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr12:118676200-118694000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr12:118676200-118707400	Weak transcription	HSMM	muscle
50	chr12:118676400-118705000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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