Variant report

Variant	esv2761768
Chromosome Location	chr12:106317265-106326204
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:106322581..106324128-chr12:106531603..106533720,2	MCF-7	breast:
2	chr12:106315778..106318266-chr12:106327212..106330143,3	MCF-7	breast:
3	chr12:106315347..106318864-chr12:106319444..106323334,6	MCF-7	breast:
4	chr12:106319277..106321862-chr12:106325653..106327351,2	MCF-7	breast:
5	chr12:106322923..106333063-chr12:106528610..106534226,20	MCF-7	breast:
6	chr12:106290453..106292441-chr12:106325256..106328012,2	MCF-7	breast:
7	chr12:106315789..106319466-chr12:106324083..106326577,3	MCF-7	breast:
8	chr12:106320573..106324506-chr12:106327076..106328938,3	MCF-7	breast:
9	chr12:106252103..106254778-chr12:106324324..106327304,2	MCF-7	breast:
10	chr12:106315789..106319466-chr12:106324083..106326577,3	MCF-7	breast:
11	chr12:106312750..106314775-chr12:106316398..106318391,2	MCF-7	breast:
12	chr12:106316408..106318277-chr12:106532466..106534378,2	MCF-7	breast:
13	chr12:106325602..106327976-chr12:106491240..106494183,2	MCF-7	breast:
14	chr12:106313628..106315997-chr12:106317077..106319893,2	K562	blood:
15	chr12:106315341..106317529-chr12:106329436..106331442,2	MCF-7	breast:
16	chr12:106319277..106321862-chr12:106325653..106327351,2	MCF-7	breast:
17	chr12:106316278..106317895-chr12:106330750..106333564,2	MCF-7	breast:
18	chr12:106315347..106318864-chr12:106319444..106323334,6	MCF-7	breast:
19	chr12:106252576..106257330-chr12:106324880..106330173,10	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000074590	chromatin interactions

Extended variants
information (count: 315 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:315 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2374561	chr12:106317265-106317266	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs558192288	chr12:106317309-106317310	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs578026965	chr12:106317360-106317361	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs537598227	chr12:106317372-106317373	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs74350283	chr12:106317377-106317378	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs573537047	chr12:106317381-106317382	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs183395740	chr12:106317407-106317408	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs369914431	chr12:106317419-106317420	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs527703484	chr12:106317442-106317443	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs34856742	chr12:106317449-106317450	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs544666300	chr12:106317466-106317467	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs559824835	chr12:106317489-106317490	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs564939376	chr12:106317530-106317531	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs187594276	chr12:106317590-106317591	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs115326445	chr12:106317600-106317601	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs550684327	chr12:106317611-106317612	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs565265816	chr12:106317631-106317632	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs372140343	chr12:106317636-106317637	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs35088820	chr12:106317639-106317640	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs192721470	chr12:106317671-106317672	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs547744799	chr12:106317712-106317713	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs562552374	chr12:106317770-106317771	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs12832870	chr12:106317786-106317787	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs12311106	chr12:106317833-106317834	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs373420595	chr12:106317837-106317838	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs73391208	chr12:106317880-106317881	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs73192116	chr12:106317881-106317882	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs551482358	chr12:106317892-106317893	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs570737382	chr12:106317904-106317905	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs537137378	chr12:106317927-106317928	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs557446157	chr12:106317970-106317971	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs573474497	chr12:106317976-106317977	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs376485522	chr12:106317977-106317978	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs536050476	chr12:106317991-106317992	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs148304960	chr12:106317993-106317994	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs572795648	chr12:106317994-106317995	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs540163022	chr12:106318036-106318037	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs113071503	chr12:106318088-106318089	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs149483953	chr12:106318099-106318100	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs564710342	chr12:106318122-106318123	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs75120488	chr12:106318139-106318140	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs141396896	chr12:106318176-106318177	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs116520181	chr12:106318198-106318199	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs529470156	chr12:106318205-106318206	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs2111981	chr12:106318272-106318273	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs113545440	chr12:106318306-106318307	Weak transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
47	rs185409856	chr12:106318333-106318334	Weak transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
48	rs150853792	chr12:106318356-106318357	Weak transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
49	rs189388548	chr12:106318357-106318358	Weak transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
50	rs571519675	chr12:106318367-106318368	Weak transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	22032731	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
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Neurocytoma	17123091	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:147 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106312600-106317400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr12:106314600-106324200	Weak transcription	Right Atrium	heart
3	chr12:106315600-106317400	Enhancers	A549	lung
4	chr12:106315800-106317400	Enhancers	HSMM	muscle
5	chr12:106316000-106317400	Enhancers	NH-A	brain
6	chr12:106316800-106320200	Weak transcription	HUVEC	blood vessel
7	chr12:106317000-106317400	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr12:106317000-106317400	Flanking Active TSS	HSMMtube	muscle
9	chr12:106317000-106321800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:106317000-106321800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:106317000-106327600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:106317200-106318000	Weak transcription	Fetal Muscle Leg	muscle
13	chr12:106317200-106318600	Weak transcription	NHEK	skin
14	chr12:106317200-106321800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:106317200-106324200	Weak transcription	Psoas Muscle	Psoas
16	chr12:106317200-106325800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr12:106317400-106317600	Enhancers	HSMMtube	muscle
18	chr12:106317400-106321200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:106317400-106321800	Weak transcription	HSMM	muscle
20	chr12:106317600-106318000	Weak transcription	HSMMtube	muscle
21	chr12:106318000-106318200	Genic enhancers	HSMMtube	muscle
22	chr12:106318200-106318400	Enhancers	Fetal Muscle Leg	muscle
23	chr12:106318200-106320600	Transcr. at gene 5' and 3'	HSMMtube	muscle
24	chr12:106318400-106318600	Enhancers	Fetal Lung	lung
25	chr12:106318600-106318800	Enhancers	NHEK	skin
26	chr12:106320600-106320800	Active TSS	HSMMtube	muscle
27	chr12:106320800-106321600	Weak transcription	HSMMtube	muscle
28	chr12:106321200-106327600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr12:106321600-106322600	Enhancers	Fetal Muscle Leg	muscle
30	chr12:106321600-106323400	Genic enhancers	HSMMtube	muscle
31	chr12:106321600-106323400	Enhancers	NHEK	skin
32	chr12:106321800-106322000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr12:106321800-106322000	Enhancers	Esophagus	oesophagus
34	chr12:106321800-106322000	Genic enhancers	HSMM	muscle
35	chr12:106321800-106323200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr12:106321800-106323400	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr12:106321800-106323400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr12:106321800-106323600	Enhancers	HMEC	breast
39	chr12:106322000-106322200	Enhancers	HSMM	muscle
40	chr12:106322000-106325400	Weak transcription	Esophagus	oesophagus
41	chr12:106322000-106325800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr12:106322200-106327600	Weak transcription	HSMM	muscle
43	chr12:106322600-106324200	Weak transcription	Fetal Muscle Leg	muscle
44	chr12:106323000-106326200	Enhancers	Brain Germinal Matrix	brain
45	chr12:106323200-106325800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr12:106323200-106326800	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr12:106323400-106324400	Weak transcription	HSMMtube	muscle
48	chr12:106323400-106324400	Weak transcription	NHEK	skin
49	chr12:106323400-106325200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr12:106323400-106325400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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