Variant report

Variant	nsv975535
Chromosome Location	chr12:123253274-123256041
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr12:123255022-123255222	K562	blood:	n/a	n/a
2	KAT2A	chr12:123254307-123254694	GM12878	blood:	n/a	n/a
3	KAT2A	chr12:123255009-123255225	GM12878	blood:	n/a	n/a
4	POLR2A	chr12:123255725-123255774	HepG2	liver:	n/a	n/a
5	POLR2A	chr12:123255052-123255175	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr12:123255629-123255636	MCF-7	breast:	n/a	n/a
7	POLR2A	chr12:123255176-123255332	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr12:123254968-123255033	MCF-7	breast:	n/a	n/a
9	POLR2A	chr12:123254992-123255002	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr12:123255642-123255847	MCF-7	breast:	n/a	n/a
11	POLR2A	chr12:123254582-123254639	MCF-7	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:123255435-123255485	HRE	kidney:	n/a
2	chr12:123255435-123255485	A549	lung:	n/a
3	chr12:123255435-123255485	CMK	blood:	n/a
4	chr12:123255435-123255485	AG10803	skin:	n/a
5	chr12:123255435-123255485	SAEC	small airway:	n/a
6	chr12:123255435-123255485	Caco-2	colon:	n/a
7	chr12:123255435-123255485	PrEC	prostate:	n/a
8	chr12:123255435-123255485	BJ	skin:	n/a
9	chr12:123255435-123255485	HAEpiC	amniotic membrane:	n/a
10	chr12:123255435-123255485	NH-A	brain:	n/a
11	chr12:123255435-123255485	HEK293	kidney:	embryo
12	chr12:123255435-123255485	GM12892	blood:	n/a
13	chr12:123255435-123255485	SK-N-MC	brain:	n/a
14	chr12:123255435-123255485	ProgFib	skin:	n/a
15	chr12:123255435-123255485	BE2_C	brain:	n/a
16	chr12:123255435-123255485	GM12891	blood:	n/a
17	chr12:123255435-123255485	HRPEpiC	eye:	n/a
18	chr12:123255435-123255485	HCT-116	colon:	n/a
19	chr12:123255435-123255485	HIPEpiC	eye:	n/a
20	chr12:123255435-123255485	HMEC	breast:	n/a
21	chr12:123255435-123255485	H1-hESC	embryonic stem cell:	embryo
22	chr12:123255435-123255485	MCF-7	breast:	n/a
23	chr12:123255435-123255485	GM19239	blood:	n/a
24	chr12:123255435-123255485	GM12878	blood:	n/a
25	chr12:123255435-123255485	AG09309	skin:	n/a
26	chr12:123255435-123255485	LNCaP	prostate:	n/a
27	chr12:123255435-123255485	K562	blood:	n/a
28	chr12:123255435-123255485	HPAEpiC	pulmonary alveolar:	n/a
29	chr12:123255435-123255485	AG04450	lung:	fetal
30	chr12:123255435-123255485	SK-N-SH	brain:	n/a
31	chr12:123255435-123255485	AG04449	skin:	fetal
32	chr12:123255435-123255485	RPTEC	kidney:	n/a
33	chr12:123255435-123255485	HepG2	liver:	n/a
34	chr12:123255435-123255485	PFSK-1	brain:	n/a
35	chr12:123255435-123255485	PANC-1	pancreas:	n/a
36	chr12:123255435-123255485	U87	brain:	n/a
37	chr12:123255435-123255485	IMR90	lung:	fetal
38	chr12:123255435-123255485	AG09319	gingival:	n/a
39	chr12:123255435-123255485	T-47D	breast:	n/a
40	chr12:123255435-123255485	SK-N-SH_RA	brain:	n/a
41	chr12:123255435-123255485	GM06990	blood:	n/a
42	chr12:123255435-123255485	ECC-1	luminal epithelium:	n/a
43	chr12:123255435-123255485	Jurkat	blood:	n/a
44	chr12:123255435-123255485	HNPCEpiC	eye:	n/a
45	chr12:123255435-123255485	HL-60	blood:	n/a
46	chr12:123255435-123255485	HCF	heart:	n/a
47	chr12:123255435-123255485	NHDF-neo	bronchial:	n/a
48	chr12:123255435-123255485	AoSMC	blood vessel:	n/a
49	chr12:123255435-123255485	SKMC	muscle:	n/a
50	chr12:123255435-123255485	HCPEpiC	choroid plexus:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr12:123237222..123239251-chr12:123250581..123253691,3	MCF-7	breast:
2	chr12:123237378..123239176-chr12:123253699..123256026,3	MCF-7	breast:
3	chr12:123242966..123245804-chr12:123255360..123258267,2	MCF-7	breast:
4	chr12:123255502..123257176-chr12:123324408..123327320,2	MCF-7	breast:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	DENR	hsa-let-7b-5p	chr12:123254266-123254288
2	DENR	hsa-miR-15b-5p	chr12:123255439-123255461

Variant related genes	Relation type
CCDC62	TF binding region
CCDC62	CpG island
ENSG00000139726	chromatin interactions

Extended variants
information (count: 143 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:143 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370390730	chr12:123253298-123253299	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs571873679	chr12:123253333-123253334	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs55881622	chr12:123253379-123253380	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs372379799	chr12:123253382-123253383	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs200039750	chr12:123253384-123253385	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs375370309	chr12:123253440-123253441	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs367903795	chr12:123253476-123253477	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs201636319	chr12:123253490-123253491	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs528184883	chr12:123253492-123253493	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs144554963	chr12:123253496-123253497	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs374643112	chr12:123253501-123253502	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs369866831	chr12:123253503-123253504	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs201139163	chr12:123253514-123253515	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs532771001	chr12:123253547-123253548	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs550965293	chr12:123253592-123253593	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs185706767	chr12:123253598-123253599	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs190514396	chr12:123253637-123253638	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs373554836	chr12:123253641-123253642	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs554942000	chr12:123253648-123253649	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs375401513	chr12:123253662-123253663	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs534501145	chr12:123253695-123253696	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149009751	chr12:123253696-123253697	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12301743	chr12:123253700-123253701	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs1045743	chr12:123253711-123253712	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs181798326	chr12:123253712-123253713	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs200597816	chr12:123253713-123253714	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs12297499	chr12:123253714-123253715	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs12301747	chr12:123253718-123253719	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs12319049	chr12:123253725-123253726	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs12300133	chr12:123253727-123253728	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs12297547	chr12:123253734-123253735	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs545207386	chr12:123253739-123253740	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs368631825	chr12:123253740-123253741	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs576412524	chr12:123253741-123253742	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs575503153	chr12:123253758-123253759	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs542595768	chr12:123253764-123253765	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs201242443	chr12:123253766-123253767	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs199544580	chr12:123253768-123253769	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs560862888	chr12:123253769-123253770	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs60193552	chr12:123253779-123253780	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs58573707	chr12:123253781-123253782	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs528120116	chr12:123253785-123253786	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs540297296	chr12:123253788-123253789	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs549049409	chr12:123253793-123253794	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs57658848	chr12:123253797-123253798	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs200461665	chr12:123253798-123253799	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs55653974	chr12:123253799-123253800	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs1671689	chr12:123253800-123253801	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs57108561	chr12:123253803-123253804	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs58789513	chr12:123253809-123253810	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
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	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	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
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD

Chromatin state (count:198 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123238400-123258000	Strong transcription	Fetal Muscle Trunk	muscle
2	chr12:123238600-123255600	Strong transcription	Fetal Intestine Large	intestine
3	chr12:123238600-123255800	Strong transcription	Rectal Mucosa Donor 29	rectum
4	chr12:123238600-123258800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:123238800-123255600	Strong transcription	Primary B cells from peripheral blood	blood
6	chr12:123238800-123255600	Strong transcription	Fetal Muscle Leg	muscle
7	chr12:123238800-123255800	Strong transcription	Primary B cells from cord blood	blood
8	chr12:123238800-123255800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:123238800-123255800	Strong transcription	Cortex derived primary cultured neurospheres	brain
10	chr12:123238800-123255800	Strong transcription	Liver	Liver
11	chr12:123238800-123256000	Strong transcription	NH-A	brain
12	chr12:123238800-123256200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr12:123238800-123256200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr12:123238800-123256200	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr12:123238800-123256200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr12:123238800-123256600	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr12:123238800-123257400	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr12:123238800-123257400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:123238800-123257600	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr12:123238800-123257800	Strong transcription	Fetal Thymus	thymus
21	chr12:123238800-123257800	Strong transcription	Osteobl	bone
22	chr12:123238800-123258000	Strong transcription	Placenta	Placenta
23	chr12:123239000-123255200	Strong transcription	Brain Hippocampus Middle	brain
24	chr12:123239000-123255600	Strong transcription	H1 Cell Line	embryonic stem cell
25	chr12:123239000-123255600	Strong transcription	Duodenum Mucosa	Duodenum
26	chr12:123239000-123255600	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr12:123239000-123256600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:123239000-123257400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr12:123239000-123257600	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr12:123239200-123253600	Strong transcription	Muscle Satellite Cultured Cells	--
31	chr12:123239200-123255800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr12:123239200-123255800	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr12:123239200-123255800	Strong transcription	Adipose Nuclei	Adipose
34	chr12:123239200-123257000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr12:123239200-123257400	Strong transcription	A549	lung
36	chr12:123239200-123257800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr12:123239400-123256800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr12:123239400-123257800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr12:123239400-123258000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr12:123239600-123258600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr12:123239800-123256200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr12:123239800-123257800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr12:123240400-123253600	Strong transcription	NHEK	skin
44	chr12:123240400-123257800	Strong transcription	Fetal Brain Female	brain
45	chr12:123240800-123253600	Strong transcription	H9 Cell Line	embryonic stem cell
46	chr12:123241400-123257600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr12:123241800-123253400	Strong transcription	Brain Germinal Matrix	brain
48	chr12:123241800-123254000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr12:123241800-123256200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr12:123242000-123253400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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