Variant report

Variant	nsv976672
Chromosome Location	chr12:123879379-123879879
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123878393..123880843-chr12:123888077..123890359,3	MCF-7	breast:
2	chr12:123879282..123881067-chr12:123885695..123887495,2	MCF-7	breast:
3	chr12:123879767..123882314-chr12:123882742..123884960,2	MCF-7	breast:
4	chr12:123871392..123873266-chr12:123879118..123880787,2	K562	blood:
5	chr12:123873357..123876856-chr12:123879238..123882589,5	K562	blood:
6	chr12:123866827..123868502-chr12:123879213..123881097,2	K562	blood:

Variant related genes	Relation type
ENSG00000183955	chromatin interactions

Extended variants
information (count: 33 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148060560	chr12:123879399-123879400	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs531470545	chr12:123879406-123879407	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs78530836	chr12:123879413-123879414	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs577280383	chr12:123879429-123879430	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs28592032	chr12:123879445-123879446	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs529047948	chr12:123879446-123879447	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs547508508	chr12:123879452-123879453	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs566313760	chr12:123879534-123879535	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs192211798	chr12:123879535-123879536	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs551655968	chr12:123879543-123879544	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs375729747	chr12:123879566-123879567	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs193920812	chr12:123879591-123879592	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs143898213	chr12:123879594-123879595	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs373920335	chr12:123879625-123879626	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs376869233	chr12:123879626-123879627	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs371474913	chr12:123879658-123879659	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs374415100	chr12:123879659-123879660	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs61955119	chr12:123879666-123879667	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs61955120	chr12:123879668-123879669	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs146436296	chr12:123879679-123879680	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs371558123	chr12:123879692-123879693	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs115782694	chr12:123879707-123879708	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs555777859	chr12:123879728-123879729	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs368899488	chr12:123879757-123879758	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs368237921	chr12:123879761-123879762	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs142509669	chr12:123879768-123879769	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs139953522	chr12:123879769-123879770	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs567542063	chr12:123879787-123879788	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs199769121	chr12:123879800-123879801	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs150318048	chr12:123879801-123879802	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs143093606	chr12:123879802-123879803	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs553027265	chr12:123879827-123879828	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs184534563	chr12:123879862-123879863	Strong transcription Weak 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:139 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123875000-123881000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:123875000-123884400	Strong transcription	Thymus	Thymus
3	chr12:123875000-123886400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:123875200-123880800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr12:123875200-123881000	Strong transcription	Fetal Intestine Large	intestine
6	chr12:123875200-123884400	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr12:123875200-123884600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:123875200-123894400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:123875400-123882200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr12:123875400-123882600	Strong transcription	Placenta	Placenta
11	chr12:123875400-123883600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:123875400-123884600	Strong transcription	Primary T cells from cord blood	blood
13	chr12:123875600-123879600	Strong transcription	Fetal Kidney	kidney
14	chr12:123875600-123880800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr12:123875600-123881000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr12:123875600-123881600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr12:123875600-123882200	Strong transcription	Colon Smooth Muscle	Colon
18	chr12:123875600-123882800	Weak transcription	Psoas Muscle	Psoas
19	chr12:123875600-123884000	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr12:123875600-123884200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr12:123875600-123884200	Strong transcription	A549	lung
22	chr12:123875600-123884200	Strong transcription	GM12878-XiMat	blood
23	chr12:123875600-123884400	Strong transcription	HMEC	breast
24	chr12:123875600-123884600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr12:123875600-123885400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr12:123875600-123894200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr12:123875600-123895600	Strong transcription	Fetal Thymus	thymus
28	chr12:123875800-123881200	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr12:123875800-123881800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr12:123875800-123881800	Strong transcription	NH-A	brain
31	chr12:123875800-123882000	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr12:123875800-123882200	Strong transcription	NHEK	skin
33	chr12:123875800-123884200	Strong transcription	Primary B cells from peripheral blood	blood
34	chr12:123875800-123884600	Strong transcription	Placenta Amnion	Placenta Amnion
35	chr12:123875800-123894000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr12:123876000-123884400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr12:123876200-123882800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr12:123876200-123884400	Strong transcription	Fetal Lung	lung
39	chr12:123876200-123885600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr12:123876400-123881400	Strong transcription	Fetal Stomach	stomach
41	chr12:123876400-123882600	Strong transcription	Liver	Liver
42	chr12:123876400-123884600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr12:123876400-123894800	Strong transcription	Fetal Intestine Small	intestine
44	chr12:123876600-123879400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr12:123876600-123881600	Strong transcription	HSMM	muscle
46	chr12:123876600-123881800	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr12:123876600-123881800	Strong transcription	Fetal Muscle Trunk	muscle
48	chr12:123876600-123882000	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr12:123876600-123882000	Strong transcription	HSMMtube	muscle
50	chr12:123876600-123884000	Strong transcription	Duodenum Mucosa	Duodenum

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