Variant report

Variant	esv3386924
Chromosome Location	chr12:121964019-121966317
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	FOXA1	chr12:121964171-121964569	HepG2	liver:	n/a	chr12:121964364-121964376
2	POLR2A	chr12:121964059-121964109	HepG2	liver:	n/a	n/a
3	USF1	chr12:121964293-121964496	HepG2	liver:	n/a	chr12:121964387-121964398

No.	Distal block	Cell Line	Cell type
1	chr12:121966142..121973158-chr12:121973289..121976781,9	MCF-7	breast:
2	chr12:121962667..121965856-chr12:121973403..121978252,4	MCF-7	breast:
3	chr12:121963430..121965799-chr12:121969024..121970843,2	K562	blood:
4	chr12:121961794..121963872-chr12:121965063..121967424,2	K562	blood:

Variant related genes	Relation type
KDM2B	TF binding region
ENSG00000089094	chromatin interactions

Extended variants
information (count: 91 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28538950	chr12:121964028-121964029	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs143279466	chr12:121964035-121964036	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs561193370	chr12:121964066-121964067	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs567788498	chr12:121964092-121964093	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs567134786	chr12:121964130-121964131	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs538012767	chr12:121964161-121964162	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs139075782	chr12:121964190-121964191	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs556458644	chr12:121964292-121964293	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs546386004	chr12:121964336-121964337	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs571234808	chr12:121964367-121964368	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs202160486	chr12:121964375-121964376	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs36036206	chr12:121964376-121964377	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs397850669	chr12:121964384-121964385	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs182734767	chr12:121964413-121964414	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs553570507	chr12:121964513-121964514	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs557090171	chr12:121964556-121964557	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs377640330	chr12:121964569-121964570	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs573453345	chr12:121964572-121964573	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs187065710	chr12:121964577-121964578	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs536349067	chr12:121964585-121964586	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs192601287	chr12:121964641-121964642	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs573373903	chr12:121964665-121964666	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs571585092	chr12:121964668-121964669	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs28518778	chr12:121964696-121964697	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs28735975	chr12:121964738-121964739	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs28533624	chr12:121964739-121964740	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs371627592	chr12:121964749-121964750	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs374860885	chr12:121964750-121964751	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs368984447	chr12:121964752-121964753	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs28756434	chr12:121964764-121964765	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs372609658	chr12:121964767-121964768	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs28839531	chr12:121964771-121964772	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs28823913	chr12:121964783-121964784	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs530487007	chr12:121964784-121964785	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs28887555	chr12:121964790-121964791	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs375815468	chr12:121964791-121964792	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs28827515	chr12:121964796-121964797	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs28971265	chr12:121964807-121964808	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs370028656	chr12:121964810-121964811	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs373912467	chr12:121964813-121964814	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs376750237	chr12:121964814-121964815	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs587768343	chr12:121964816-121964817	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs370851982	chr12:121964821-121964822	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs373846798	chr12:121964822-121964823	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs377513197	chr12:121964824-121964825	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs370564271	chr12:121964825-121964826	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs373781477	chr12:121964829-121964830	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs376958881	chr12:121964834-121964835	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs371235657	chr12:121964840-121964841	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs375382087	chr12:121964841-121964842	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Autism	22495311	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
Urothelial carcinoma	21177765	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
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:204 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121928600-121965800	Weak transcription	Hela-S3	cervix
2	chr12:121932000-121974400	Weak transcription	NHEK	skin
3	chr12:121934800-121968200	Weak transcription	Small Intestine	intestine
4	chr12:121938200-121968600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr12:121938200-121971000	Weak transcription	Stomach Mucosa	stomach
6	chr12:121938200-121973800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr12:121938400-121968600	Weak transcription	Fetal Kidney	kidney
8	chr12:121938400-121973600	Weak transcription	Psoas Muscle	Psoas
9	chr12:121938800-121968600	Weak transcription	Right Atrium	heart
10	chr12:121938800-121970600	Weak transcription	Fetal Brain Male	brain
11	chr12:121943800-121968600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr12:121944000-121968400	Weak transcription	Osteobl	bone
13	chr12:121947600-121968200	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr12:121947800-121968800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr12:121947800-121969400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:121947800-121973400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr12:121948000-121968400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr12:121948200-121973600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr12:121950200-121973800	Weak transcription	HSMMtube	muscle
20	chr12:121952400-121968400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr12:121952600-121968200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr12:121952600-121968600	Weak transcription	A549	lung
23	chr12:121953400-121970600	Strong transcription	Fetal Intestine Small	intestine
24	chr12:121954000-121967800	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr12:121954200-121964400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr12:121954200-121964800	Strong transcription	Thymus	Thymus
27	chr12:121954600-121964800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr12:121956000-121964600	Strong transcription	Dnd41	blood
29	chr12:121956200-121964400	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr12:121956200-121964400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr12:121956400-121964400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr12:121957400-121968600	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr12:121957400-121973200	Weak transcription	Colon Smooth Muscle	Colon
34	chr12:121957600-121969200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:121957800-121965800	Weak transcription	Fetal Lung	lung
36	chr12:121957800-121968200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr12:121958600-121968400	Weak transcription	Primary hematopoietic stem cells	blood
38	chr12:121958800-121968600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr12:121959000-121964600	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr12:121959000-121964800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr12:121959000-121968400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr12:121959200-121964200	Weak transcription	HepG2	liver
43	chr12:121959200-121964400	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr12:121959200-121974000	Weak transcription	Aorta	Aorta
45	chr12:121959400-121965800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr12:121959400-121968600	Weak transcription	Duodenum Mucosa	Duodenum
47	chr12:121959400-121968600	Weak transcription	Left Ventricle	heart
48	chr12:121959400-121972800	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr12:121959600-121965800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr12:121959600-121965800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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