Variant report

Variant	nsv972984
Chromosome Location	chr12:45831852-45839014
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr12:45836428-45836799	HCT-116	colon:	n/a	n/a
2	CEBPB	chr12:45837122-45837371	HepG2	liver:	n/a	chr12:45837273-45837284
3	CEBPB	chr12:45837139-45837339	A549	lung:	n/a	chr12:45837273-45837284
4	CEBPB	chr12:45837222-45837335	K562	blood:	n/a	chr12:45837273-45837284
5	CTCF	chr12:45835120-45835270	Hela-S3	cervix:	n/a	n/a
6	E2F4	chr12:45837587-45838103	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr12:45832948-45833109	MCF10A-Er-Src	breast:	n/a	chr12:45832988-45832997
8	FOS	chr12:45832915-45833136	MCF10A-Er-Src	breast:	n/a	chr12:45832988-45832997
9	FOS	chr12:45832950-45833150	MCF10A-Er-Src	breast:	n/a	chr12:45832988-45832997
10	JUND	chr12:45835546-45835618	HepG2	liver:	n/a	n/a
11	JUND	chr12:45835188-45835306	K562	blood:	n/a	chr12:45835246-45835258 chr12:45835248-45835256
12	KAP1	chr12:45836505-45836831	HEK293	kidney:	n/a	n/a
13	POLR2A	chr12:45838492-45838584	MCF10A-Er-Src	breast:	n/a	n/a
14	SETDB1	chr12:45836493-45836710	U2OS	brain:	n/a	n/a
15	SPI1	chr12:45832817-45833012	K562	blood:	n/a	chr12:45832915-45832928 chr12:45832917-45832926
16	SPI1	chr12:45832829-45833038	GM12891	blood:	n/a	chr12:45832915-45832928 chr12:45832917-45832926

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:45826943..45829622-chr12:45831325..45834835,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANO6-2	chr12:45838549-45839221	NONHSAT027826

Variant related genes	Relation type
ENSG00000257368	TF binding region

Extended variants
information (count: 255 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:255 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538678048	chr12:45831865-45831866	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs556823446	chr12:45831867-45831868	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs575538273	chr12:45831884-45831885	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs536057345	chr12:45831885-45831886	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs79952161	chr12:45831921-45831922	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534124962	chr12:45831924-45831925	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572958779	chr12:45831950-45831951	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs111430677	chr12:45831968-45831969	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs564992273	chr12:45832007-45832008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576885232	chr12:45832030-45832031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146399274	chr12:45832034-45832035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs71437722	chr12:45832035-45832036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371009855	chr12:45832038-45832039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139843655	chr12:45832045-45832046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs377038424	chr12:45832056-45832057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201719373	chr12:45832059-45832060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139538072	chr12:45832067-45832068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553486047	chr12:45832111-45832112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563962080	chr12:45832130-45832131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34418316	chr12:45832144-45832145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185989203	chr12:45832157-45832158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs74081821	chr12:45832166-45832167	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs533469061	chr12:45832219-45832220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191217531	chr12:45832317-45832318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546670064	chr12:45832405-45832406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571442696	chr12:45832441-45832442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181250200	chr12:45832455-45832456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550610219	chr12:45832489-45832490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113210095	chr12:45832545-45832546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536503851	chr12:45832554-45832555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs56404222	chr12:45832579-45832580	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs11183037	chr12:45832602-45832603	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs534005115	chr12:45832611-45832612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185834652	chr12:45832615-45832616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190552705	chr12:45832642-45832643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576275965	chr12:45832646-45832647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149228951	chr12:45832657-45832658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183117658	chr12:45832666-45832667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543279277	chr12:45832668-45832669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188929231	chr12:45832688-45832689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs34457065	chr12:45832696-45832697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528672745	chr12:45832747-45832748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540468610	chr12:45832788-45832789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565038614	chr12:45832868-45832869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs143339641	chr12:45832888-45832889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs151307396	chr12:45832900-45832901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs192001007	chr12:45832905-45832906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs140769189	chr12:45832919-45832920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs376963036	chr12:45832939-45832940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs548440961	chr12:45832950-45832951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
T-cell prolymphocytic leukemia	17713554	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
small cell lung cancer	20016488	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
Gastric cancer	18160780	CNVD
Myelofibrosis	22110671	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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45812600-45832000	Weak transcription	Small Intestine	intestine
2	chr12:45821200-45833000	Weak transcription	NH-A	brain
3	chr12:45824200-45832800	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr12:45824800-45833000	Weak transcription	NHDF-Ad	bronchial
5	chr12:45825600-45835800	Weak transcription	Colon Smooth Muscle	Colon
6	chr12:45826200-45832800	Weak transcription	HSMM	muscle
7	chr12:45827600-45832800	Weak transcription	Pancreas	Pancrea
8	chr12:45827600-45834800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr12:45827600-45842800	Weak transcription	Aorta	Aorta
10	chr12:45828000-45841800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr12:45828400-45835400	Weak transcription	Adipose Nuclei	Adipose
12	chr12:45830000-45832600	Weak transcription	Right Atrium	heart
13	chr12:45830000-45833600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:45830200-45832800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:45830400-45832800	Weak transcription	Osteobl	bone
16	chr12:45831800-45832000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
17	chr12:45831800-45832000	Enhancers	Lung	lung
18	chr12:45831800-45832000	Enhancers	Ovary	ovary
19	chr12:45832000-45832200	Weak transcription	Lung	lung
20	chr12:45832800-45833200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr12:45832800-45833400	Enhancers	Osteobl	bone
22	chr12:45832800-45833600	Enhancers	Muscle Satellite Cultured Cells	--
23	chr12:45832800-45833800	Enhancers	HSMM	muscle
24	chr12:45833000-45833200	Enhancers	NHDF-Ad	bronchial
25	chr12:45833000-45833400	Enhancers	NH-A	brain
26	chr12:45835400-45835600	ZNF genes & repeats	Adipose Nuclei	Adipose

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