Variant report

Variant	nsv976629
Chromosome Location	chr12:57105196-57107533
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:142)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:142 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr12:57104819-57105213	GM12878	blood:	n/a	n/a
2	BCL3	chr12:57104583-57105539	A549	lung:	n/a	chr12:57105438-57105447
3	CTCF	chr12:57107257-57107569	T-47D	breast:	n/a	n/a
4	CTCF	chr12:57106517-57106713	T-47D	breast:	n/a	n/a
5	E2F4	chr12:57107182-57107357	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr12:57107139-57107436	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr12:57107122-57107540	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr12:57107133-57107538	MCF10A-Er-Src	breast:	n/a	n/a
9	MTA3	chr12:57104913-57105392	GM12878	blood:	n/a	n/a
10	MTA3	chr12:57104517-57105513	GM12878	blood:	n/a	n/a
11	MYC	chr12:57107144-57107447	MCF10A-Er-Src	breast:	n/a	n/a
12	NFATC1	chr12:57104607-57105262	GM12878	blood:	n/a	n/a
13	NFATC1	chr12:57104572-57105512	GM12878	blood:	n/a	n/a
14	NFIC	chr12:57105012-57105434	GM12878	blood:	n/a	n/a
15	PML	chr12:57104769-57105442	K562	blood:	n/a	n/a
16	PML	chr12:57104690-57105634	GM12878	blood:	n/a	n/a
17	POLR2A	chr12:57106181-57108985	SK-N-MC	brain:	n/a	n/a
18	POLR2A	chr12:57106412-57107424	HepG2	liver:	n/a	n/a
19	POLR2A	chr12:57104619-57105560	GM12891	blood:	n/a	n/a
20	POLR2A	chr12:57105886-57106135	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr12:57104584-57105427	SK-N-MC	brain:	n/a	n/a
22	POLR2A	chr12:57104368-57105709	SK-N-MC	brain:	n/a	n/a
23	POLR2A	chr12:57104685-57105646	GM12878	blood:	n/a	n/a
24	POLR2A	chr12:57105242-57105789	HL-60	blood:	n/a	n/a
25	POLR2A	chr12:57103657-57105821	PFSK-1	brain:	n/a	n/a
26	POLR2A	chr12:57104396-57105495	HUVEC	blood vessel:	n/a	n/a
27	POLR2A	chr12:57106368-57106882	GM12878	blood:	n/a	n/a
28	POLR2A	chr12:57104474-57105805	PANC-1	pancreas:	n/a	n/a
29	POLR2A	chr12:57105112-57105448	HCT-116	colon:	n/a	n/a
30	POLR2A	chr12:57106920-57107751	GM12892	blood:	n/a	n/a
31	POLR2A	chr12:57104787-57105798	K562	blood:	n/a	n/a
32	POLR2A	chr12:57106995-57107424	U87	brain:	n/a	n/a
33	POLR2A	chr12:57105245-57105764	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr12:57107041-57107443	K562	blood:	n/a	n/a
35	POLR2A	chr12:57104495-57105570	SK-N-SH	brain:	n/a	n/a
36	POLR2A	chr12:57104627-57105702	HepG2	liver:	n/a	n/a
37	POLR2A	chr12:57106213-57109097	PFSK-1	brain:	n/a	n/a
38	POLR2A	chr12:57106929-57107408	HL-60	blood:	n/a	n/a
39	POLR2A	chr12:57106432-57106620	K562	blood:	n/a	n/a
40	POLR2A	chr12:57106032-57106052	HepG2	liver:	n/a	n/a
41	POLR2A	chr12:57104602-57105803	HL-60	blood:	n/a	n/a
42	POLR2A	chr12:57106794-57107401	PANC-1	pancreas:	n/a	n/a
43	POLR2A	chr12:57105236-57105251	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr12:57106287-57106727	K562	blood:	n/a	n/a
45	POLR2A	chr12:57104550-57105713	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr12:57107472-57108022	PANC-1	pancreas:	n/a	n/a
47	POLR2A	chr12:57107507-57108074	HL-60	blood:	n/a	n/a
48	POLR2A	chr12:57107090-57107945	GM12892	blood:	n/a	n/a
49	POLR2A	chr12:57105980-57106014	HUVEC	blood vessel:	n/a	n/a
50	POLR2A	chr12:57105848-57106169	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57071568..57074070-chr12:57103902..57106725,2	K562	blood:
2	chr12:57080452..57082852-chr12:57101909..57106660,4	K562	blood:
3	chr12:57106579..57108709-chrX:20158606..20161019,2	K562	blood:
4	chr12:57038464..57040434-chr12:57103579..57106506,2	K562	blood:
5	chr12:57076071..57078890-chr12:57104142..57106874,2	K562	blood:
6	chr12:57088163..57090039-chr12:57103030..57105439,2	MCF-7	breast:
7	chr12:57080638..57082220-chr12:57105324..57106849,2	K562	blood:

No data

Variant related genes	Relation type
NACA	TF binding region
ENSG00000173674	chromatin interactions
ENSG00000110955	chromatin interactions
ENSG00000110958	chromatin interactions
ENSG00000207031	chromatin interactions

Extended variants
information (count: 113 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546153477	chr12:57105204-57105205	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs574811464	chr12:57105211-57105212	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs138837387	chr12:57105244-57105245	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs557038077	chr12:57105283-57105284	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs557515137	chr12:57105298-57105299	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs142653242	chr12:57105300-57105301	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs577568001	chr12:57105343-57105344	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs546002292	chr12:57105364-57105365	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs564673211	chr12:57105436-57105437	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs573333285	chr12:57105443-57105444	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs377256187	chr12:57105471-57105472	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs146039949	chr12:57105598-57105599	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs562232883	chr12:57105603-57105604	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs528941002	chr12:57105610-57105611	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs550551691	chr12:57105612-57105613	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs539898792	chr12:57105623-57105624	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs141242960	chr12:57105635-57105636	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs368027519	chr12:57105644-57105645	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs551310673	chr12:57105647-57105648	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs566688316	chr12:57105672-57105673	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs529028355	chr12:57105677-57105678	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs188310969	chr12:57105704-57105705	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs549300781	chr12:57105712-57105713	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs34332706	chr12:57105728-57105729	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs71446568	chr12:57105752-57105753	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs180713766	chr12:57105778-57105779	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs199883877	chr12:57105838-57105839	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs535465765	chr12:57105843-57105844	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs556902858	chr12:57105895-57105896	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs150775585	chr12:57105900-57105901	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs2860482	chr12:57105938-57105939	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs557953707	chr12:57105940-57105941	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs573422314	chr12:57105952-57105953	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs11613539	chr12:57105956-57105957	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs540463828	chr12:57105959-57105960	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs149905281	chr12:57105987-57105988	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs374046972	chr12:57106002-57106003	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs574346227	chr12:57106031-57106032	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs185766417	chr12:57106062-57106063	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs368190606	chr12:57106101-57106102	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs571505600	chr12:57106138-57106139	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs527698731	chr12:57106150-57106151	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs556433678	chr12:57106159-57106160	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs77660658	chr12:57106172-57106173	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs545123765	chr12:57106178-57106179	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs559982408	chr12:57106180-57106181	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs190291607	chr12:57106192-57106193	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs570349482	chr12:57106218-57106219	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs567786563	chr12:57106233-57106234	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs567238579	chr12:57106260-57106261	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
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
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
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
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Bladder cancer	21909424	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	20531469	CNVD
Rhabdomyosarcoma	16790082	CNVD
Renal cell carcinoma	18765545	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21138945	CNVD
Glioblastoma multiforme	21569311	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	21509527	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glycogen storage disease	18421352	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:187 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57083800-57105200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr12:57089000-57109600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:57095000-57105200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr12:57100000-57105200	Weak transcription	Thymus	Thymus
5	chr12:57100400-57105200	Weak transcription	GM12878-XiMat	blood
6	chr12:57100400-57106600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr12:57100600-57105200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr12:57101400-57106200	Weak transcription	K562	blood
9	chr12:57101600-57105200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr12:57101800-57105200	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr12:57101800-57106400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr12:57102400-57106400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:57102600-57105200	Weak transcription	HSMMtube	muscle
14	chr12:57102600-57105400	Weak transcription	Fetal Intestine Small	intestine
15	chr12:57103000-57106400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:57103200-57106200	Weak transcription	Brain Hippocampus Middle	brain
17	chr12:57103200-57106200	Weak transcription	Fetal Brain Female	brain
18	chr12:57103200-57106400	Weak transcription	Right Ventricle	heart
19	chr12:57103200-57107600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:57103400-57105200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr12:57103400-57105200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr12:57103400-57105200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr12:57103400-57105200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr12:57103400-57105200	Weak transcription	Left Ventricle	heart
25	chr12:57103400-57105200	Weak transcription	HMEC	breast
26	chr12:57103400-57106400	Weak transcription	Colonic Mucosa	Colon
27	chr12:57103400-57106400	Weak transcription	Pancreas	Pancrea
28	chr12:57103600-57105200	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr12:57103600-57105200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr12:57103600-57105200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr12:57103600-57105400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr12:57103600-57106200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr12:57103600-57106400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr12:57103800-57106000	Weak transcription	Primary hematopoietic stem cells	blood
35	chr12:57103800-57106000	Weak transcription	Brain Anterior Caudate	brain
36	chr12:57103800-57106000	Weak transcription	Hela-S3	cervix
37	chr12:57103800-57106200	Weak transcription	Primary T cells from cord blood	blood
38	chr12:57103800-57106200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr12:57103800-57106400	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr12:57103800-57106400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr12:57103800-57106400	Weak transcription	Brain Angular Gyrus	brain
42	chr12:57103800-57106400	Weak transcription	Esophagus	oesophagus
43	chr12:57103800-57106400	Weak transcription	Gastric	stomach
44	chr12:57103800-57106400	Weak transcription	NHLF	lung
45	chr12:57103800-57107200	Weak transcription	Aorta	Aorta
46	chr12:57104000-57105200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr12:57104000-57105200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr12:57104000-57105200	Weak transcription	Psoas Muscle	Psoas
49	chr12:57104000-57106400	Weak transcription	Brain Cingulate Gyrus	brain
50	chr12:57104000-57106400	Weak transcription	Ovary	ovary

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