Variant report

Variant	esv3354957
Chromosome Location	chr12:49413735-49414983
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:239)
CpG islands
(count:0)
Chromatin interactive
region (count:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:4)

(count:239 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:49413922-49414016	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:49413860-49414027	K562	blood:	n/a	n/a
3	BHLHE40	chr12:49413908-49413942	K562	blood:	n/a	n/a
4	CBX3	chr12:49413722-49414092	K562	blood:	n/a	n/a
5	CTCF	chr12:49413900-49414050	HUVEC	blood vessel:	n/a	n/a
6	CTCF	chr12:49413860-49414010	HRE	kidney:	n/a	n/a
7	CTCF	chr12:49413840-49413990	HAc	cerebellar:	n/a	n/a
8	CTCF	chr12:49413878-49414026	GM20000	blood:	n/a	n/a
9	CTCF	chr12:49413757-49414137	K562	blood:	n/a	n/a
10	CTCF	chr12:49413900-49414050	GM06990	blood:	n/a	n/a
11	CTCF	chr12:49413840-49413990	HA-sp	spinal cord:	n/a	n/a
12	CTCF	chr12:49413884-49414036	GM10266	blood:	n/a	n/a
13	CTCF	chr12:49413873-49414023	ProgFib	skin:	n/a	n/a
14	CTCF	chr12:49413880-49414030	HPAF	blood vessel:	n/a	n/a
15	CTCF	chr12:49413878-49414025	Fibrobl	skin:	n/a	n/a
16	CTCF	chr12:49413900-49414050	SK-N-SH_RA	brain:	n/a	n/a
17	CTCF	chr12:49413880-49414030	HBMEC	blood vessel:	n/a	n/a
18	CTCF	chr12:49413880-49414030	AG10803	skin:	n/a	n/a
19	CTCF	chr12:49413900-49414050	AG09319	gingival:	n/a	n/a
20	CTCF	chr12:49413900-49414050	HFF	foreskin:	n/a	n/a
21	CTCF	chr12:49413860-49414010	Hela-S3	cervix:	n/a	n/a
22	CTCF	chr12:49413900-49414050	HVMF	connective:	n/a	n/a
23	CTCF	chr12:49413811-49414113	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr12:49413860-49414010	GM12872	blood:	n/a	n/a
25	CTCF	chr12:49413856-49414066	Medullo	brain:	n/a	n/a
26	CTCF	chr12:49413849-49414061	GM12892	blood:	n/a	n/a
27	CTCF	chr12:49413860-49414010	MCF-7	breast:	n/a	n/a
28	CTCF	chr12:49413755-49414050	A549	lung:	n/a	n/a
29	CTCF	chr12:49413767-49414078	K562	blood:	n/a	n/a
30	CTCF	chr12:49413860-49414010	GM12878	blood:	n/a	n/a
31	CTCF	chr12:49413877-49414028	LNCaP	prostate:	n/a	n/a
32	CTCF	chr12:49413841-49414056	GM19240	blood:	n/a	n/a
33	CTCF	chr12:49413858-49414049	A549	lung:	n/a	n/a
34	CTCF	chr12:49413864-49414041	A549	lung:	n/a	n/a
35	CTCF	chr12:49413880-49414030	HCFaa	heart:	n/a	n/a
36	CTCF	chr12:49413800-49413950	NHDF-neo	bronchial:	n/a	n/a
37	CTCF	chr12:49413857-49414054	HepG2	liver:	n/a	n/a
38	CTCF	chr12:49413873-49414051	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr12:49413900-49414050	HL-60	blood:	n/a	n/a
40	CTCF	chr12:49413880-49414030	GM12875	blood:	n/a	n/a
41	CTCF	chr12:49413840-49413990	GM12870	blood:	n/a	n/a
42	CTCF	chr12:49413860-49414010	HUVEC	blood vessel:	n/a	n/a
43	CTCF	chr12:49413860-49414010	BE2_C	brain:	n/a	n/a
44	CTCF	chr12:49413840-49413990	GM12868	blood:	n/a	n/a
45	CTCF	chr12:49413880-49414030	GM12874	blood:	n/a	n/a
46	CTCF	chr12:49413880-49414030	HMEC	breast:	n/a	n/a
47	CTCF	chr12:49413880-49414030	HEEpiC	esophagus:	n/a	n/a
48	CTCF	chr12:49413800-49413950	HMEC	breast:	n/a	n/a
49	CTCF	chr12:49413880-49414030	Hela-S3	cervix:	n/a	n/a
50	CTCF	chr12:49413840-49414062	GM12891	blood:	n/a	n/a

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49207853..49210267-chr12:49412242..49414195,2	K562	blood:
2	chr12:49410463..49414527-chr12:49462417..49465664,5	K562	blood:
3	chr12:49412238..49414069-chr12:49657738..49659294,2	MCF-7	breast:
4	chr12:49361132..49362678-chr12:49413782..49415312,2	MCF-7	breast:
5	chr12:49411035..49414032-chr12:49431081..49434275,3	K562	blood:
6	chr12:49412434..49414037-chr12:49481965..49485048,3	K562	blood:
7	chr12:49348804..49352502-chr12:49411258..49414497,4	MCF-7	breast:
8	chr12:49407466..49416688-chr12:49451532..49456163,12	MCF-7	breast:
9	chr12:49412128..49415221-chr12:49522907..49525212,5	MCF-7	breast:
10	chr12:49408338..49419708-chr12:49447252..49460551,38	K562	blood:
11	chr12:49410733..49415536-chr12:49523564..49526910,8	K562	blood:
12	chr12:49109260..49113049-chr12:49411417..49414170,4	K562	blood:
13	chr12:49411020..49415552-chr12:49523211..49527183,13	K562	blood:
14	chr12:49410141..49415550-chr12:49657481..49661686,9	K562	blood:
15	chr12:49349202..49351999-chr12:49410599..49414055,4	MCF-7	breast:
16	chr12:49369680..49374710-chr12:49411684..49416052,5	K562	blood:
17	chr12:49410741..49414968-chr12:49656213..49660641,6	K562	blood:
18	chr12:49409714..49416851-chr12:49447402..49455499,24	MCF-7	breast:
19	chr12:49409658..49414587-chr12:49499656..49504173,4	K562	blood:
20	chr12:49412487..49414498-chr12:49429302..49431280,2	MCF-7	breast:
21	chr12:49209305..49214344-chr12:49410836..49414443,6	MCF-7	breast:
22	chr12:49368203..49373775-chr12:49410781..49415457,6	K562	blood:
23	chr12:49408415..49414757-chr12:49522619..49525582,9	MCF-7	breast:
24	chr12:49390223..49391069-chr12:49413217..49414800,4	K562	blood:
25	chr12:49411250..49414905-chr12:49447359..49450802,6	MCF-7	breast:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location
1	MLL2	hsa-miR-15b-5p	chr12:49414050-49414073
2	MLL2	hsa-miR-34a-5p	chr12:49414800-49414794
3	MLL2	hsa-miR-186-5p	chr12:49414192-49414213
4	MLL2	hsa-miR-15b-5p	chr12:49414430-49414424

Variant related genes	Relation type
PRKAG1	TF binding region
ENSG00000125084	chromatin interactions
ENSG00000167553	chromatin interactions
ENSG00000258101	chromatin interactions
ENSG00000257346	chromatin interactions
ENSG00000139636	chromatin interactions
ENSG00000134287	chromatin interactions
ENSG00000129315	chromatin interactions
ENSG00000272822	chromatin interactions
ENSG00000200303	chromatin interactions
ENSG00000167535	chromatin interactions
ENSG00000167550	chromatin interactions
ENSG00000167548	chromatin interactions
ENSG00000123416	chromatin interactions
ENSG00000200309	chromatin interactions
ENSG00000258017	chromatin interactions

Extended variants
information (count: 28 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182918402	chr12:49413815-49413816	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
2	rs373700153	chr12:49413817-49413818	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
3	rs561367993	chr12:49413822-49413823	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
4	rs530183421	chr12:49413840-49413841	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
5	rs35841807	chr12:49413843-49413844	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
6	rs35258682	chr12:49413916-49413917	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
7	rs58586363	chr12:49413927-49413928	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
8	rs546701118	chr12:49413959-49413960	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
9	rs566595518	chr12:49414013-49414014	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
10	rs12315734	chr12:49414023-49414024	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs113610343	chr12:49414119-49414120	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
12	rs552183789	chr12:49414131-49414132	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
13	rs376702078	chr12:49414254-49414255	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
14	rs371610071	chr12:49414363-49414364	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
15	rs569222147	chr12:49414398-49414399	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
16	rs527595503	chr12:49414456-49414457	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
17	rs566024882	chr12:49414519-49414520	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
18	rs563489548	chr12:49414522-49414523	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
19	rs376254397	chr12:49414551-49414552	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
20	rs552467500	chr12:49414571-49414572	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
21	rs188479434	chr12:49414719-49414720	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs192035980	chr12:49414748-49414749	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
23	rs553126082	chr12:49414806-49414807	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
24	rs374518108	chr12:49414826-49414827	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs530983777	chr12:49414899-49414900	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs573000768	chr12:49414911-49414912	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs545108166	chr12:49414958-49414959	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs545974412	chr12:49414975-49414976	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
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
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
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
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Cancer	17160897	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD

Chromatin state (count:266 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49412200-49414000	Active TSS	Rectal Mucosa Donor 31	rectum
2	chr12:49412600-49414000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:49412600-49415000	Weak transcription	Gastric	stomach
4	chr12:49412800-49413800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr12:49412800-49414000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr12:49412800-49414000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr12:49412800-49414000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:49413000-49413800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:49413000-49413800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:49413000-49414000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:49413000-49414000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr12:49413000-49414000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
13	chr12:49413000-49414000	Enhancers	Placenta	Placenta
14	chr12:49413000-49414600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:49413000-49414600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:49413000-49414600	Weak transcription	Lung	lung
17	chr12:49413000-49414600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr12:49413000-49415000	Weak transcription	Esophagus	oesophagus
19	chr12:49413000-49415000	Weak transcription	Pancreas	Pancrea
20	chr12:49413000-49415200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr12:49413000-49415200	Weak transcription	Aorta	Aorta
22	chr12:49413000-49415200	Weak transcription	Brain Substantia Nigra	brain
23	chr12:49413000-49415200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr12:49413000-49415600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr12:49413000-49416000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr12:49413000-49453400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr12:49413200-49413800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr12:49413200-49413800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr12:49413200-49413800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr12:49413200-49413800	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr12:49413200-49413800	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr12:49413200-49413800	Flanking Active TSS	Brain Germinal Matrix	brain
33	chr12:49413200-49413800	Enhancers	Fetal Brain Male	brain
34	chr12:49413200-49413800	Enhancers	Fetal Intestine Large	intestine
35	chr12:49413200-49413800	Flanking Active TSS	A549	lung
36	chr12:49413200-49413800	Flanking Active TSS	K562	blood
37	chr12:49413200-49414000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr12:49413200-49414000	Enhancers	Primary B cells from peripheral blood	blood
39	chr12:49413200-49414000	Enhancers	Primary T cells fromperipheralblood	blood
40	chr12:49413200-49414000	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr12:49413200-49414000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr12:49413200-49414000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr12:49413200-49414000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr12:49413200-49414000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr12:49413200-49414000	Enhancers	Muscle Satellite Cultured Cells	--
46	chr12:49413200-49414000	Enhancers	Colon Smooth Muscle	Colon
47	chr12:49413200-49414000	Enhancers	Fetal Heart	heart
48	chr12:49413200-49414000	Enhancers	Fetal Muscle Trunk	muscle
49	chr12:49413200-49414000	Enhancers	Fetal Thymus	thymus
50	chr12:49413200-49414000	Flanking Active TSS	Dnd41	blood

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