Variant report

Variant	esv3342888
Chromosome Location	chr12:123959624-123962172
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123874464..123876265-chr12:123959816..123961777,2	MCF-7	breast:
2	chr12:123961557..123965005-chr12:123968810..123972226,4	MCF-7	breast:
3	chr12:123944654..123946936-chr12:123957621..123961049,4	K562	blood:
4	chr12:123942477..123944445-chr12:123961035..123963054,2	K562	blood:
5	chr12:123956134..123958285-chr12:123959076..123962639,4	K562	blood:
6	chr12:123959532..123961123-chr12:123963340..123966059,2	MCF-7	breast:
7	chr12:123960921..123963126-chr12:124005515..124007518,2	K562	blood:
8	chr12:123961515..123963818-chr12:123967365..123970564,3	K562	blood:
9	chr12:123957896..123960389-chr12:123963228..123966813,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000188026	chromatin interactions
ENSG00000184209	chromatin interactions
ENSG00000183955	chromatin interactions

Extended variants
information (count: 113 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138946123	chr12:123959634-123959635	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
2	rs9723192	chr12:123959649-123959650	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs36084544	chr12:123959681-123959682	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs192945009	chr12:123959685-123959686	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
5	rs563197252	chr12:123959697-123959698	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
6	rs545945359	chr12:123959865-123959866	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs564045307	chr12:123959871-123959872	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs185548051	chr12:123959873-123959874	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs9723083	chr12:123959882-123959883	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs149413553	chr12:123959888-123959889	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs370118545	chr12:123960020-123960021	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs144835480	chr12:123960036-123960037	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs374240288	chr12:123960037-123960038	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs566301721	chr12:123960038-123960039	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs539655080	chr12:123960065-123960066	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs551957989	chr12:123960080-123960081	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs148778146	chr12:123960110-123960111	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs77539620	chr12:123960169-123960170	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs368111709	chr12:123960171-123960172	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs537705232	chr12:123960193-123960194	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs148167433	chr12:123960199-123960200	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs370909448	chr12:123960202-123960203	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs376691982	chr12:123960224-123960225	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs141128899	chr12:123960238-123960239	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs372767178	chr12:123960253-123960254	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs376666060	chr12:123960264-123960265	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs369647325	chr12:123960265-123960266	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs373728304	chr12:123960279-123960280	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs76319350	chr12:123960292-123960293	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs578012590	chr12:123960332-123960333	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs375486495	chr12:123960338-123960339	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs190424159	chr12:123960395-123960396	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs545704445	chr12:123960407-123960408	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs147356346	chr12:123960424-123960425	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs139529397	chr12:123960427-123960428	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs375190049	chr12:123960445-123960446	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs9777754	chr12:123960474-123960475	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs180672439	chr12:123960496-123960497	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs147174890	chr12:123960512-123960513	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs547326851	chr12:123960526-123960527	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs528303471	chr12:123960544-123960545	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs559185879	chr12:123960556-123960557	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs201867973	chr12:123960580-123960581	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs533016390	chr12:123960608-123960609	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs552019228	chr12:123960664-123960665	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs199927952	chr12:123960700-123960701	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs184527453	chr12:123960844-123960845	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs368849567	chr12:123960845-123960846	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs377096891	chr12:123960848-123960849	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs369469819	chr12:123960850-123960851	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:215 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123943800-123961200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr12:123944600-123995600	Weak transcription	Hela-S3	cervix
3	chr12:123944600-124012200	Strong transcription	Fetal Stomach	stomach
4	chr12:123944800-123964600	Weak transcription	Small Intestine	intestine
5	chr12:123945800-123965600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:123946000-123965600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:123947600-123971800	Strong transcription	Fetal Intestine Small	intestine
8	chr12:123948200-123962800	Strong transcription	Fetal Muscle Trunk	muscle
9	chr12:123949000-123966200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:123949000-123984400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:123950000-123963200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:123950400-123973000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr12:123950800-123961400	Weak transcription	Right Atrium	heart
14	chr12:123950800-124007600	Weak transcription	Colonic Mucosa	Colon
15	chr12:123953800-123968200	Weak transcription	GM12878-XiMat	blood
16	chr12:123954200-123964600	Strong transcription	Fetal Lung	lung
17	chr12:123954200-123971000	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr12:123954400-123961200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr12:123955200-123971000	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr12:123956000-123965600	Strong transcription	Fetal Brain Female	brain
21	chr12:123956800-123961200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr12:123956800-123961600	Strong transcription	Muscle Satellite Cultured Cells	--
23	chr12:123956800-123963200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr12:123956800-123964400	Weak transcription	Primary B cells from peripheral blood	blood
25	chr12:123956800-123973400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr12:123956800-123993400	Weak transcription	HMEC	breast
27	chr12:123956800-123995400	Weak transcription	Fetal Brain Male	brain
28	chr12:123957000-123966400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr12:123957200-123965000	Weak transcription	Colon Smooth Muscle	Colon
30	chr12:123957400-123960200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr12:123957400-123962000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr12:123957400-123963200	Weak transcription	Gastric	stomach
33	chr12:123957400-123965000	Weak transcription	Rectal Smooth Muscle	rectum
34	chr12:123957400-123965200	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr12:123957400-123968200	Weak transcription	Primary hematopoietic stem cells	blood
36	chr12:123957400-123968400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr12:123957400-123972800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr12:123957400-123973000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:123957400-123982400	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr12:123957400-123995400	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr12:123957400-123995400	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr12:123957600-123959800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr12:123957600-123961000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr12:123957600-123961000	Weak transcription	Lung	lung
45	chr12:123957600-123961200	Weak transcription	Right Ventricle	heart
46	chr12:123957600-123961200	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr12:123957600-123962800	Weak transcription	Esophagus	oesophagus
48	chr12:123957600-123962800	Weak transcription	HUVEC	blood vessel
49	chr12:123957600-123963000	Weak transcription	Brain Substantia Nigra	brain
50	chr12:123957600-123963200	Weak transcription	Ovary	ovary

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links