Variant report

Variant	esv996114
Chromosome Location	chr12:123741593-123742443
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr12:123742264-123742710	ECC-1	luminal epithelium:	n/a	chr12:123742534-123742550 chr12:123742534-123742551
2	NFIC	chr12:123742223-123742747	SK-N-SH	brain:	n/a	chr12:123742534-123742550 chr12:123742534-123742551
3	NFIC	chr12:123742222-123742872	ECC-1	luminal epithelium:	n/a	chr12:123742534-123742550 chr12:123742534-123742551
4	POLR2A	chr12:123742138-123742181	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr12:123741647-123741820	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr12:123742207-123742583	HepG2	liver:	n/a	n/a
7	POLR2A	chr12:123742051-123744066	K562	blood:	n/a	n/a
8	POLR2A	chr12:123742059-123742111	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr12:123742114-123742442	HCT-116	colon:	n/a	n/a
10	POLR2A	chr12:123742086-123742386	HepG2	liver:	n/a	n/a
11	POLR2A	chr12:123742092-123742207	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr12:123742054-123742517	HepG2	liver:	n/a	n/a
13	POLR2A	chr12:123741323-123741763	PANC-1	pancreas:	n/a	n/a
14	POLR2A	chr12:123742094-123742578	K562	blood:	n/a	n/a
15	POLR2A	chr12:123742088-123744024	SK-N-MC	brain:	n/a	n/a
16	POLR2A	chr12:123741683-123743944	HepG2	liver:	n/a	n/a
17	POLR2A	chr12:123742085-123742310	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr12:123742119-123742717	PANC-1	pancreas:	n/a	n/a
19	POLR2A	chr12:123741937-123742757	PANC-1	pancreas:	n/a	n/a
20	POLR2A	chr12:123742284-123742378	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	chr12:123741754-123741804	HepG2	liver:	n/a
2	chr12:123741754-123741804	AG09319	gingival:	n/a
3	chr12:123741754-123741804	HCPEpiC	choroid plexus:	n/a
4	chr12:123741754-123741804	MCF10A-Er-Src	breast:	n/a
5	chr12:123741754-123741804	PANC-1	pancreas:	n/a
6	chr12:123741754-123741804	Hepatocyte	liver:	n/a
7	chr12:123741754-123741804	HEK293	kidney:	embryo
8	chr12:123741754-123741804	GM12878	blood:	n/a
9	chr12:123741754-123741804	SK-N-MC	brain:	n/a
10	chr12:123741754-123741804	H1-hESC	embryonic stem cell:	embryo
11	chr12:123741754-123741804	NHDF-neo	bronchial:	n/a
12	chr12:123741754-123741804	GM19239	blood:	n/a
13	chr12:123741754-123741804	HRE	kidney:	n/a
14	chr12:123741754-123741804	NH-A	brain:	n/a
15	chr12:123741754-123741804	HMEC	breast:	n/a
16	chr12:123741754-123741804	SAEC	small airway:	n/a
17	chr12:123741754-123741804	AG04449	skin:	fetal
18	chr12:123741754-123741804	Jurkat	blood:	n/a
19	chr12:123741754-123741804	HNPCEpiC	eye:	n/a
20	chr12:123741754-123741804	LNCaP	prostate:	n/a
21	chr12:123741754-123741804	PFSK-1	brain:	n/a
22	chr12:123741754-123741804	HPAEpiC	pulmonary alveolar:	n/a
23	chr12:123741754-123741804	CMK	blood:	n/a
24	chr12:123741754-123741804	HL-60	blood:	n/a
25	chr12:123741754-123741804	HEEpiC	esophagus:	n/a
26	chr12:123741754-123741804	MCF-7	breast:	n/a
27	chr12:123741754-123741804	AoSMC	blood vessel:	n/a
28	chr12:123741754-123741804	BJ	skin:	n/a
29	chr12:123741754-123741804	SK-N-SH_RA	brain:	n/a
30	chr12:123741754-123741804	AG09309	skin:	n/a
31	chr12:123741754-123741804	GM06990	blood:	n/a
32	chr12:123741754-123741804	HRCEpiC	kidney:	n/a
33	chr12:123741754-123741804	SK-N-SH	brain:	n/a
34	chr12:123741754-123741804	NT2-D1	testis:	n/a
35	chr12:123741754-123741804	HCF	heart:	n/a
36	chr12:123741754-123741804	NB4	blood:	n/a
37	chr12:123741754-123741804	ProgFib	skin:	n/a
38	chr12:123741754-123741804	ovcar-3	ovarian:	n/a
39	chr12:123741754-123741804	NHBE	bronchial:	n/a
40	chr12:123741754-123741804	U87	brain:	n/a
41	chr12:123741754-123741804	K562	blood:	n/a
42	chr12:123741754-123741804	AG04450	lung:	fetal
43	chr12:123741754-123741804	GM12892	blood:	n/a
44	chr12:123741754-123741804	Caco-2	colon:	n/a
45	chr12:123741754-123741804	HCM	heart:	n/a
46	chr12:123741754-123741804	HAEpiC	amniotic membrane:	n/a
47	chr12:123741754-123741804	BE2_C	brain:	n/a
48	chr12:123741754-123741804	Hela-S3	cervix:	n/a
49	chr12:123741754-123741804	PrEC	prostate:	n/a
50	chr12:123741754-123741804	HRPEpiC	eye:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123716188..123719079-chr12:123740733..123744668,4	K562	blood:
2	chr12:123738852..123742382-chr12:123742428..123743998,3	MCF-7	breast:
3	chr12:123737581..123740036-chr12:123741564..123743810,2	MCF-7	breast:
4	chr12:123716155..123719079-chr12:123740733..123744668,4	K562	blood:
5	chr12:123738852..123742382-chr12:123742428..123743998,3	MCF-7	breast:
6	chr12:123733838..123737944-chr12:123742344..123746385,6	MCF-7	breast:
7	chr12:123740880..123744807-chr12:123747455..123750621,4	MCF-7	breast:
8	chr12:123733760..123735468-chr12:123740461..123742402,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000269980	TF binding region
ENSG00000269980	CpG island
ENSG00000130921	chromatin interactions
ENSG00000051825	chromatin interactions

Extended variants
information (count: 37 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552328115	chr12:123741641-123741642	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs564259389	chr12:123741652-123741653	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs531601049	chr12:123741660-123741661	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs542705130	chr12:123741664-123741665	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs11554169	chr12:123741706-123741707	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs187437068	chr12:123741754-123741755	Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs114120858	chr12:123741772-123741773	Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs377302566	chr12:123741773-123741774	Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs1969354	chr12:123741776-123741777	Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs558294643	chr12:123741777-123741778	Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs576685763	chr12:123741784-123741785	Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs537693587	chr12:123741837-123741838	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs577908102	chr12:123741877-123741878	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs190739985	chr12:123741888-123741889	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs11057214	chr12:123741932-123741933	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs541434593	chr12:123741938-123741939	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs559620927	chr12:123741940-123741941	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs578038348	chr12:123741956-123741957	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs545696537	chr12:123742019-123742020	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs76029248	chr12:123742032-123742033	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs553086281	chr12:123742049-123742050	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs549626626	chr12:123742060-123742061	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs1969355	chr12:123742061-123742062	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs539929749	chr12:123742073-123742074	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs1533703	chr12:123742093-123742094	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs577282722	chr12:123742130-123742131	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs546970479	chr12:123742166-123742167	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs552969177	chr12:123742206-123742207	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs565651935	chr12:123742225-123742226	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs202152701	chr12:123742271-123742272	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs142690675	chr12:123742277-123742278	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs148010033	chr12:123742287-123742288	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs200006594	chr12:123742289-123742290	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs560165861	chr12:123742331-123742332	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs551684840	chr12:123742339-123742340	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs148902117	chr12:123742387-123742388	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs537633061	chr12:123742415-123742416	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:146 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123725800-123746400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:123733400-123745000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:123734600-123753200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:123735200-123751800	Strong transcription	Fetal Stomach	stomach
5	chr12:123735400-123745400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:123735600-123743400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr12:123735600-123752400	Strong transcription	Thymus	Thymus
8	chr12:123736000-123745400	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr12:123736000-123747800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:123736000-123748000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:123736000-123752200	Strong transcription	Dnd41	blood
12	chr12:123736200-123742400	Strong transcription	Fetal Thymus	thymus
13	chr12:123736200-123744200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr12:123736200-123751400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr12:123736400-123750600	Strong transcription	Fetal Lung	lung
16	chr12:123736400-123752200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:123736400-123752600	Strong transcription	NHLF	lung
18	chr12:123737000-123744000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr12:123737000-123753000	Strong transcription	Fetal Intestine Small	intestine
20	chr12:123737200-123752000	Strong transcription	A549	lung
21	chr12:123737400-123749000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr12:123737800-123742000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr12:123737800-123743800	Strong transcription	GM12878-XiMat	blood
24	chr12:123737800-123745000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr12:123737800-123745600	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr12:123737800-123746800	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr12:123738000-123742600	Strong transcription	HepG2	liver
28	chr12:123738000-123743400	Strong transcription	Primary B cells from peripheral blood	blood
29	chr12:123738000-123743400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr12:123738000-123743600	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr12:123738000-123743600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr12:123738000-123743800	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr12:123738000-123743800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr12:123738000-123744000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr12:123738000-123744600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr12:123738000-123745200	Strong transcription	Spleen	Spleen
37	chr12:123738000-123746000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr12:123738000-123746200	Strong transcription	H9 Cell Line	embryonic stem cell
39	chr12:123738000-123746200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr12:123738000-123746600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr12:123738000-123748200	Strong transcription	Primary T cells from cord blood	blood
42	chr12:123738000-123749200	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr12:123738000-123749200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr12:123738000-123749600	Strong transcription	Fetal Muscle Leg	muscle
45	chr12:123738000-123749600	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr12:123738000-123750400	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr12:123738000-123751000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr12:123738000-123751200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr12:123738000-123751800	Strong transcription	Liver	Liver
50	chr12:123738000-123751800	Strong transcription	Fetal Intestine Large	intestine

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