Variant report

Variant	esv3407752
Chromosome Location	chr12:122621849-122624347
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122622900..122624989-chr12:122626471..122629379,3	K562	blood:
2	chr12:122614209..122616378-chr12:122622721..122625197,2	MCF-7	breast:
3	chr12:122492209..122492850-chr12:122621521..122622107,2	MCF-7	breast:
4	chr12:122622146..122623768-chr12:122624080..122626451,2	K562	blood:
5	chr12:122620610..122622976-chr12:122690151..122692942,2	K562	blood:
6	chr12:122610584..122613162-chr12:122620730..122622905,2	K562	blood:
7	chr12:122622146..122623768-chr12:122624080..122626451,2	K562	blood:
8	chr12:122492842..122494404-chr12:122622971..122625233,2	K562	blood:
9	chr12:122623410..122625195-chr12:122629931..122632295,2	K562	blood:
10	chr12:122617007..122620104-chr12:122620256..122623523,4	MCF-7	breast:
11	chr12:122618310..122620095-chr12:122620821..122622381,2	MCF-7	breast:
12	chr12:122610093..122613162-chr12:122619277..122622905,4	K562	blood:
13	chr12:122514027..122516383-chr12:122620376..122623225,2	K562	blood:
14	chr12:122616509..122619601-chr12:122620715..122623353,5	K562	blood:
15	chr12:122623695..122625503-chr12:122629931..122631877,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000175727	chromatin interactions

Extended variants
information (count: 116 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:116 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376880165	chr12:122621849-122621850	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs556001654	chr12:122621868-122621869	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs547212677	chr12:122621878-122621879	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs189557401	chr12:122621924-122621925	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs377629466	chr12:122621968-122621969	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs560032998	chr12:122621973-122621974	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs112936273	chr12:122621979-122621980	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs370722324	chr12:122621985-122621986	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs373872608	chr12:122621987-122621988	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs77644167	chr12:122621988-122621989	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs370052670	chr12:122621996-122621997	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs553709767	chr12:122621998-122621999	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs61952925	chr12:122622026-122622027	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs374999599	chr12:122622042-122622043	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs572483636	chr12:122622050-122622051	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs367600310	chr12:122622059-122622060	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs372190131	chr12:122622060-122622061	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs564592756	chr12:122622072-122622073	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs375233806	chr12:122622080-122622081	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs534281993	chr12:122622110-122622111	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs368270904	chr12:122622115-122622116	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs531690181	chr12:122622176-122622177	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs373759373	chr12:122622207-122622208	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs11307581	chr12:122622208-122622209	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs114049635	chr12:122622222-122622223	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs562403540	chr12:122622292-122622293	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs529589980	chr12:122622309-122622310	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs547955045	chr12:122622372-122622373	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs566106437	chr12:122622383-122622384	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs192598890	chr12:122622476-122622477	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs551811085	chr12:122622494-122622495	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs532947217	chr12:122622507-122622508	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs570222996	chr12:122622515-122622516	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs184937399	chr12:122622516-122622517	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs555784964	chr12:122622560-122622561	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs189821054	chr12:122622611-122622612	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs569849658	chr12:122622629-122622630	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs74527410	chr12:122622637-122622638	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs143658280	chr12:122622704-122622705	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs371679295	chr12:122622709-122622710	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs375144859	chr12:122622723-122622724	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs369168025	chr12:122622726-122622727	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs539647583	chr12:122622785-122622786	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs74580294	chr12:122622795-122622796	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs375827081	chr12:122622799-122622800	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs370025893	chr12:122622803-122622804	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs77689868	chr12:122622814-122622815	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs267603349	chr12:122622826-122622827	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs576649657	chr12:122622859-122622860	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs200132014	chr12:122622869-122622870	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
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:230 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122584200-122622000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:122608400-122625400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:122608600-122632800	Strong transcription	Fetal Stomach	stomach
4	chr12:122610200-122629200	Strong transcription	Primary T cells from cord blood	blood
5	chr12:122610200-122629200	Strong transcription	Fetal Thymus	thymus
6	chr12:122610400-122630600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr12:122610400-122630600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:122610600-122629200	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr12:122610600-122629400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:122610600-122633200	Weak transcription	Right Atrium	heart
11	chr12:122610800-122628800	Strong transcription	Primary B cells from peripheral blood	blood
12	chr12:122610800-122630600	Strong transcription	Thymus	Thymus
13	chr12:122611200-122626000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr12:122611200-122630400	Strong transcription	Gastric	stomach
15	chr12:122611400-122628800	Strong transcription	Pancreas	Pancrea
16	chr12:122611400-122629800	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr12:122611400-122630400	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr12:122611600-122629000	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr12:122611600-122630000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:122611600-122630600	Strong transcription	Sigmoid Colon	Sigmoid Colon
21	chr12:122611800-122622000	Strong transcription	Placenta	Placenta
22	chr12:122611800-122624200	Strong transcription	Fetal Intestine Large	intestine
23	chr12:122611800-122624200	Strong transcription	Dnd41	blood
24	chr12:122611800-122624400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr12:122611800-122626400	Strong transcription	Spleen	Spleen
26	chr12:122611800-122628800	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr12:122611800-122628800	Strong transcription	Fetal Lung	lung
28	chr12:122611800-122628800	Strong transcription	Rectal Smooth Muscle	rectum
29	chr12:122611800-122629000	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr12:122611800-122629400	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr12:122612000-122622200	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr12:122612000-122622400	Strong transcription	Brain Hippocampus Middle	brain
33	chr12:122612000-122628600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr12:122612000-122628800	Strong transcription	Fetal Brain Female	brain
35	chr12:122612000-122629400	Strong transcription	Duodenum Mucosa	Duodenum
36	chr12:122612000-122630600	Strong transcription	Colonic Mucosa	Colon
37	chr12:122612000-122631000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr12:122612000-122632400	Strong transcription	Fetal Intestine Small	intestine
39	chr12:122612200-122627400	Strong transcription	Right Ventricle	heart
40	chr12:122612200-122628800	Strong transcription	Adipose Nuclei	Adipose
41	chr12:122612200-122632400	Strong transcription	Stomach Smooth Muscle	stomach
42	chr12:122612600-122623000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr12:122613400-122628800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr12:122614400-122625200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr12:122614600-122622200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr12:122614600-122622600	Weak transcription	Stomach Mucosa	stomach
47	chr12:122614800-122622000	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr12:122615000-122622000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr12:122615000-122626200	Strong transcription	Lung	lung
50	chr12:122615000-122628000	Weak transcription	NHDF-Ad	bronchial

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