Variant report

Variant	esv3413472
Chromosome Location	chr12:123385966-123388318
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	ARID3A	chr12:123386156-123386505	K562	blood:	n/a	n/a
2	ATF1	chr12:123386074-123386472	K562	blood:	n/a	n/a
3	ATF2	chr12:123386077-123386698	GM12878	blood:	n/a	n/a
4	BCL11A	chr12:123386019-123386408	GM12878	blood:	n/a	n/a
5	BCL11A	chr12:123386059-123386558	GM12878	blood:	n/a	chr12:123386469-123386478
6	BCLAF1	chr12:123386086-123386703	GM12878	blood:	n/a	chr12:123386469-123386478 chr12:123386595-123386604
7	BHLHE40	chr12:123386174-123386635	GM12878	blood:	n/a	n/a
8	CEBPB	chr12:123386176-123386273	K562	blood:	n/a	n/a
9	CEBPD	chr12:123386004-123386514	K562	blood:	n/a	n/a
10	CHD1	chr12:123386697-123386709	GM12878	blood:	n/a	n/a
11	CHD2	chr12:123386193-123386624	GM12878	blood:	n/a	n/a
12	CUX1	chr12:123386190-123386816	GM12878	blood:	n/a	n/a
13	EBF1	chr12:123386091-123386561	GM12878	blood:	n/a	chr12:123386450-123386461
14	EBF1	chr12:123385989-123386924	GM12878	blood:	n/a	chr12:123386450-123386461
15	EBF1	chr12:123386044-123386604	GM12878	blood:	n/a	chr12:123386450-123386461
16	ELK1	chr12:123386218-123386470	GM12878	blood:	n/a	n/a
17	EP300	chr12:123386063-123386812	GM12878	blood:	n/a	chr12:123386595-123386604
18	EP300	chr12:123386058-123386842	GM12878	blood:	n/a	chr12:123386595-123386604
19	EP300	chr12:123386121-123386601	GM12878	blood:	n/a	n/a
20	EP300	chr12:123386096-123386448	K562	blood:	n/a	n/a
21	ETS1	chr12:123386308-123386537	GM12878	blood:	n/a	n/a
22	FOXM1	chr12:123386049-123386721	GM12878	blood:	n/a	n/a
23	GATA1	chr12:123385953-123386652	K562	blood:	n/a	chr12:123386212-123386229
24	GATA1	chr12:123386050-123386613	PBDE	blood:	n/a	chr12:123386212-123386229
25	GATA2	chr12:123386073-123386468	K562	blood:	n/a	chr12:123386212-123386229
26	IKZF1	chr12:123386100-123386782	GM12878	blood:	n/a	n/a
27	IRF1	chr12:123387569-123387599	K562	blood:	n/a	n/a
28	JUND	chr12:123386095-123386372	K562	blood:	n/a	n/a
29	MAFK	chr12:123386196-123386313	K562	blood:	n/a	n/a
30	MAZ	chr12:123386097-123386623	GM12878	blood:	n/a	chr12:123386595-123386604
31	MAZ	chr12:123386227-123386258	K562	blood:	n/a	n/a
32	MEF2A	chr12:123386086-123386566	GM12878	blood:	n/a	chr12:123386161-123386172 chr12:123386158-123386175 chr12:123386158-123386173
33	MTA3	chr12:123386000-123386917	GM12878	blood:	n/a	n/a
34	MXI1	chr12:123386104-123386581	GM12878	blood:	n/a	n/a
35	MYC	chr12:123386201-123386302	K562	blood:	n/a	n/a
36	NFIC	chr12:123385948-123386725	GM12878	blood:	n/a	n/a
37	NFIC	chr12:123386106-123386694	GM12878	blood:	n/a	n/a
38	PAX5	chr12:123386250-123386569	GM12878	blood:	n/a	chr12:123386469-123386478
39	PAX5	chr12:123386184-123386555	GM12878	blood:	n/a	chr12:123386469-123386478
40	PAX5	chr12:123386102-123386546	GM12878	blood:	n/a	chr12:123386469-123386478
41	PAX5	chr12:123386051-123386651	GM12878	blood:	n/a	chr12:123386469-123386478
42	PAX5	chr12:123386179-123386562	GM12891	blood:	n/a	chr12:123386469-123386478
43	POU2F2	chr12:123386031-123386422	GM12878	blood:	n/a	n/a
44	POU2F2	chr12:123385951-123386518	GM12878	blood:	n/a	n/a
45	RCOR1	chr12:123386179-123386427	K562	blood:	n/a	n/a
46	RCOR1	chr12:123386091-123386620	GM12878	blood:	n/a	n/a
47	RCOR1	chr12:123386121-123386395	K562	blood:	n/a	n/a
48	RUNX3	chr12:123385966-123386629	GM12878	blood:	n/a	n/a
49	RUNX3	chr12:123385974-123386743	GM12878	blood:	n/a	n/a
50	SMC3	chr12:123386154-123386530	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:123386558..123390013-chr12:123395024..123397384,3	MCF-7	breast:
2	chr12:123379396..123382383-chr12:123382549..123386101,3	MCF-7	breast:
3	chr12:123371782..123374478-chr12:123385509..123387711,2	K562	blood:
4	chr12:123379239..123381321-chr12:123385286..123388225,2	K562	blood:
5	chr12:123387780..123389965-chr12:123460322..123463203,2	K562	blood:
6	chr12:123378665..123382104-chr12:123382212..123387589,4	MCF-7	breast:

Variant related genes	Relation type
VPS37B	TF binding region
ENSG00000139722	chromatin interactions
ENSG00000111325	chromatin interactions

Extended variants
information (count: 125 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553576213	chr12:123385987-123385988	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs565814946	chr12:123386007-123386008	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs539599675	chr12:123386008-123386009	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs558394609	chr12:123386011-123386012	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs576776625	chr12:123386012-123386013	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs113555511	chr12:123386016-123386017	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs185976073	chr12:123386029-123386030	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs534608464	chr12:123386045-123386046	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs372839617	chr12:123386056-123386057	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs75388347	chr12:123386070-123386071	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs75532558	chr12:123386199-123386200	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs541458340	chr12:123386221-123386222	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs79158557	chr12:123386241-123386242	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs190538518	chr12:123386256-123386257	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs533474132	chr12:123386258-123386259	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs376287977	chr12:123386269-123386270	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs183793677	chr12:123386369-123386370	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs563959591	chr12:123386381-123386382	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs531428843	chr12:123386394-123386395	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs370756073	chr12:123386493-123386494	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs76465767	chr12:123386495-123386496	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs557849181	chr12:123386514-123386515	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs563417069	chr12:123386518-123386519	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs568053264	chr12:123386519-123386520	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs78721508	chr12:123386522-123386523	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs201485411	chr12:123386525-123386526	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs531781671	chr12:123386526-123386527	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs188770950	chr12:123386530-123386531	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs565599072	chr12:123386531-123386532	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs147820843	chr12:123386557-123386558	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs558356004	chr12:123386611-123386612	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs141366084	chr12:123386692-123386693	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs147009864	chr12:123386693-123386694	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs199881748	chr12:123386744-123386745	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs556088239	chr12:123386761-123386762	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs574325067	chr12:123386851-123386852	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs201194650	chr12:123386874-123386875	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs78865336	chr12:123386888-123386889	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs75034383	chr12:123386889-123386890	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs75106040	chr12:123386893-123386894	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs12296892	chr12:123386897-123386898	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs113284296	chr12:123386900-123386901	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs59182525	chr12:123386902-123386903	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs200097591	chr12:123386903-123386904	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs76045717	chr12:123386908-123386909	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs12366456	chr12:123386909-123386910	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs12372624	chr12:123386916-123386917	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs143238327	chr12:123386918-123386919	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs76824237	chr12:123386919-123386920	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs12372639	chr12:123386923-123386924	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	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
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
Ependymoma	20639864	CNVD
Pancreatic cancer	17952125	CNVD
head and neck squamous cell carcinoma	24351288	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:154 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123381000-123386000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:123381000-123387400	Weak transcription	Liver	Liver
3	chr12:123381000-123387400	Weak transcription	Fetal Heart	heart
4	chr12:123381000-123387800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:123381200-123386000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr12:123381200-123386200	Weak transcription	Fetal Intestine Small	intestine
7	chr12:123381200-123387000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr12:123381200-123387400	Weak transcription	Fetal Brain Female	brain
9	chr12:123381200-123387600	Weak transcription	Fetal Intestine Large	intestine
10	chr12:123381200-123388400	Enhancers	Primary B cells from peripheral blood	blood
11	chr12:123383200-123387000	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr12:123383400-123386000	Weak transcription	K562	blood
13	chr12:123383400-123386400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr12:123383600-123386200	Enhancers	Primary B cells from cord blood	blood
15	chr12:123383600-123386200	Enhancers	Primary T cells from cord blood	blood
16	chr12:123383600-123387000	Enhancers	Primary T cells fromperipheralblood	blood
17	chr12:123383600-123387400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr12:123383600-123387400	Weak transcription	A549	lung
19	chr12:123383600-123387800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr12:123383800-123386200	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr12:123383800-123386600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr12:123383800-123386600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr12:123383800-123386600	Weak transcription	Duodenum Mucosa	Duodenum
24	chr12:123383800-123386800	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr12:123383800-123387000	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr12:123383800-123387200	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr12:123383800-123387600	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr12:123383800-123387600	Weak transcription	Stomach Mucosa	stomach
29	chr12:123383800-123394600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr12:123384000-123386000	Enhancers	GM12878-XiMat	blood
31	chr12:123384000-123386600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr12:123384000-123387200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr12:123384000-123387400	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr12:123384000-123387400	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr12:123384000-123387800	Weak transcription	Brain Angular Gyrus	brain
36	chr12:123384400-123386000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr12:123384400-123387200	Weak transcription	Colonic Mucosa	Colon
38	chr12:123384400-123387400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:123384600-123386000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr12:123384600-123386000	Weak transcription	Dnd41	blood
41	chr12:123384600-123386200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr12:123384800-123386000	Weak transcription	Placenta	Placenta
43	chr12:123384800-123387000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr12:123384800-123387800	Weak transcription	Primary hematopoietic stem cells	blood
45	chr12:123384800-123387800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr12:123384800-123387800	Weak transcription	Fetal Thymus	thymus
47	chr12:123384800-123387800	Weak transcription	Pancreas	Pancrea
48	chr12:123385000-123386200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr12:123385000-123387400	Weak transcription	HepG2	liver
50	chr12:123385400-123386400	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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