Variant report

Variant	esv3448883
Chromosome Location	chr12:123889563-123892089
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123889675..123891640-chr12:123898975..123901256,2	MCF-7	breast:
2	chr12:123889075..123892344-chr12:123892398..123894933,4	K562	blood:
3	chr12:123873871..123875474-chr12:123888257..123890941,2	K562	blood:
4	chr12:123873393..123875666-chr12:123886945..123889757,3	K562	blood:
5	chr12:123878393..123880843-chr12:123888077..123890359,3	MCF-7	breast:
6	chr12:123889002..123891622-chr12:123895728..123898606,2	K562	blood:
7	chr12:123886695..123888203-chr12:123890596..123893402,2	K562	blood:
8	chr12:123889713..123892231-chr12:123892398..123893927,2	K562	blood:
9	chr12:123881479..123883562-chr12:123887318..123890802,3	MCF-7	breast:
10	chr12:123891872..123893382-chr12:123894921..123897058,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000183955	chromatin interactions

Extended variants
information (count: 111 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374294423	chr12:123889576-123889577	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs559892921	chr12:123889580-123889581	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs201640889	chr12:123889637-123889638	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs551962498	chr12:123889658-123889659	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs373425798	chr12:123889668-123889669	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs570497028	chr12:123889699-123889700	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs531956426	chr12:123889701-123889702	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs550354690	chr12:123889721-123889722	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs568772516	chr12:123889728-123889729	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs79697079	chr12:123889751-123889752	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs138582556	chr12:123889752-123889753	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs578237429	chr12:123889757-123889758	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs554178411	chr12:123889790-123889791	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs565919223	chr12:123889810-123889811	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs548362145	chr12:123889877-123889878	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs114419282	chr12:123889887-123889888	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs185347873	chr12:123889902-123889903	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs188490918	chr12:123889951-123889952	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs56068069	chr12:123889964-123889965	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs181568782	chr12:123889965-123889966	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs376119099	chr12:123889975-123889976	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs34477554	chr12:123890034-123890035	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs57606754	chr12:123890061-123890062	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs369108898	chr12:123890062-123890063	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs193149189	chr12:123890063-123890064	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs375884498	chr12:123890064-123890065	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs61441068	chr12:123890065-123890066	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs66937611	chr12:123890088-123890089	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs35093204	chr12:123890090-123890091	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs28507128	chr12:123890096-123890097	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs574264459	chr12:123890106-123890107	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs541752224	chr12:123890113-123890114	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs560120198	chr12:123890147-123890148	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs543229710	chr12:123890199-123890200	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs374786068	chr12:123890209-123890210	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs564178965	chr12:123890212-123890213	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs531386464	chr12:123890213-123890214	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs550442634	chr12:123890220-123890221	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs73216930	chr12:123890221-123890222	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs139609790	chr12:123890235-123890236	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs200914410	chr12:123890237-123890238	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs370539018	chr12:123890238-123890239	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs544747677	chr12:123890240-123890241	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs566334827	chr12:123890269-123890270	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs28576953	chr12:123890276-123890277	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs149919023	chr12:123890295-123890296	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs569820200	chr12:123890348-123890349	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs568203599	chr12:123890368-123890369	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs537147154	chr12:123890373-123890374	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs555983373	chr12:123890397-123890398	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Breast cancer	22522925	CNVD

Chromatin state (count:180 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123875200-123894400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:123875600-123894200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:123875600-123895600	Strong transcription	Fetal Thymus	thymus
4	chr12:123875800-123894000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:123876400-123894800	Strong transcription	Fetal Intestine Small	intestine
6	chr12:123876600-123894800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr12:123877400-123895600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:123882000-123911600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr12:123883200-123895400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:123883800-123894200	Strong transcription	HUVEC	blood vessel
11	chr12:123883800-123895200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr12:123884200-123892800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr12:123884200-123895200	Strong transcription	Fetal Muscle Trunk	muscle
14	chr12:123886000-123895200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr12:123886000-123895400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:123886200-123892000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr12:123886200-123892000	Strong transcription	Primary T cells from cord blood	blood
18	chr12:123886200-123894200	Strong transcription	Fetal Intestine Large	intestine
19	chr12:123886200-123894800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:123886200-123895200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr12:123886200-123895200	Strong transcription	Fetal Muscle Leg	muscle
22	chr12:123886200-123895200	Strong transcription	Sigmoid Colon	Sigmoid Colon
23	chr12:123886200-123895200	Strong transcription	Dnd41	blood
24	chr12:123886200-123895400	Strong transcription	Fetal Brain Female	brain
25	chr12:123886400-123890200	Strong transcription	Placenta	Placenta
26	chr12:123886400-123891000	Strong transcription	Hela-S3	cervix
27	chr12:123886400-123892200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr12:123886400-123892200	Strong transcription	Brain Germinal Matrix	brain
29	chr12:123886400-123892400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr12:123886400-123893400	Strong transcription	Rectal Smooth Muscle	rectum
31	chr12:123886400-123894200	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr12:123886400-123894200	Strong transcription	Left Ventricle	heart
33	chr12:123886400-123894200	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr12:123886400-123894400	Strong transcription	Osteobl	bone
35	chr12:123886400-123894800	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr12:123886400-123895000	Strong transcription	Adipose Nuclei	Adipose
37	chr12:123886400-123895000	Strong transcription	Liver	Liver
38	chr12:123886400-123895200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr12:123886400-123895200	Strong transcription	Spleen	Spleen
40	chr12:123886400-123895200	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr12:123886400-123895200	Strong transcription	NHLF	lung
42	chr12:123886400-123895400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr12:123886400-123895400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr12:123886400-123895400	Strong transcription	Thymus	Thymus
45	chr12:123886600-123889600	Strong transcription	NHDF-Ad	bronchial
46	chr12:123886600-123889800	Strong transcription	A549	lung
47	chr12:123886600-123890000	Strong transcription	GM12878-XiMat	blood
48	chr12:123886600-123892000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr12:123886600-123892200	Strong transcription	Placenta Amnion	Placenta Amnion
50	chr12:123886600-123892600	Strong transcription	Rectal Mucosa Donor 29	rectum

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