Variant report

Variant	esv17595
Chromosome Location	chr12:67295958-67301314
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:1)
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	chr12:67298346..67300741-chr12:67305071..67306583,2	MCF-7	breast:
2	chr12:67296029..67298947-chr12:67402634..67404774,2	K562	blood:
3	chr12:67297065..67298731-chr12:67613597..67614634,5	MCF-7	breast:
4	chr12:67300543..67302588-chr12:67306675..67309652,2	MCF-7	breast:
5	chr12:67297865..67298411-chr12:67461007..67461777,2	MCF-7	breast:
6	chr12:67297515..67298406-chr12:67615824..67616730,3	MCF-7	breast:
7	chr12:67296511..67299023-chr12:67323435..67324974,2	MCF-7	breast:
8	chr12:67289452..67290999-chr12:67296445..67299201,2	MCF-7	breast:
9	chr12:67296662..67299325-chr12:67460578..67464881,5	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GRIP1-1	chr12:67301276-67301326	XLOC_010109

No data

Variant related genes	Relation type
ENSG00000256248	chromatin interactions
DCBLD2	miRNA target sites

Extended variants
information (count: 229 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:229 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74098137	chr12:67295966-67295967	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs550612135	chr12:67295983-67295984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs569252717	chr12:67296006-67296007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs530349282	chr12:67296007-67296008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187077561	chr12:67296009-67296010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs2904532	chr12:67296044-67296045	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs534464219	chr12:67296054-67296055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs142078459	chr12:67296226-67296227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs7132609	chr12:67296260-67296261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs538626536	chr12:67296276-67296277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557065906	chr12:67296379-67296380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs575227873	chr12:67296398-67296399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs536479591	chr12:67296497-67296498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73126100	chr12:67296521-67296522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11176482	chr12:67296547-67296548	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs556882534	chr12:67296552-67296553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11176483	chr12:67296574-67296575	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs149566276	chr12:67296597-67296598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12812596	chr12:67296607-67296608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12812597	chr12:67296610-67296611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs115327108	chr12:67296615-67296616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544261098	chr12:67296627-67296628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559086369	chr12:67296631-67296632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs74098138	chr12:67296639-67296640	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs530105858	chr12:67296689-67296690	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs548787552	chr12:67296759-67296760	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs572913285	chr12:67296779-67296780	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs560432279	chr12:67296790-67296791	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs527998741	chr12:67296792-67296793	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs1875832	chr12:67296794-67296795	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs571157925	chr12:67296816-67296817	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs372803422	chr12:67296844-67296845	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs372659746	chr12:67296884-67296885	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs367821899	chr12:67296900-67296901	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs34598070	chr12:67296901-67296902	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs67804589	chr12:67296902-67296903	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs10506514	chr12:67296924-67296925	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs550289714	chr12:67296989-67296990	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs568947907	chr12:67297018-67297019	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs114947558	chr12:67297065-67297066	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs33985339	chr12:67297076-67297077	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs5798846	chr12:67297077-67297078	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs554759070	chr12:67297084-67297085	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs60335372	chr12:67297085-67297086	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs397790171	chr12:67297090-67297091	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs572742089	chr12:67297112-67297113	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs533735304	chr12:67297130-67297131	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs1995504	chr12:67297208-67297209	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs191563693	chr12:67297214-67297215	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs1995503	chr12:67297235-67297236	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
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
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	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
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Fibroblasts	20926602	CNVD
Metanephric adenoma	20802469	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Ovarian neoplasms	16753589	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21364760	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	22048815	CNVD
Congenital anomalies of the kidney and urinary tract	21113617	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Myxofibrosarcoma	16751306	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Lung cancer	17925434	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Disease	21505450	CNVD
craniofacial dysmorphism	21918468	CNVD
Glioblastoma multiforme	21569311	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67292200-67296400	Enhancers	Primary T cells from cord blood	blood
2	chr12:67292600-67296000	Enhancers	Primary T helper naive cells from peripheral blood	blood
3	chr12:67292800-67296200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr12:67293000-67298800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:67293200-67296000	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr12:67293200-67296200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr12:67293200-67296200	Weak transcription	HMEC	breast
8	chr12:67293200-67298000	Weak transcription	Colon Smooth Muscle	Colon
9	chr12:67293200-67298000	Weak transcription	Psoas Muscle	Psoas
10	chr12:67293400-67296000	Enhancers	Primary B cells from peripheral blood	blood
11	chr12:67293400-67296200	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr12:67293400-67304000	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr12:67293600-67296000	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr12:67294200-67296000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr12:67295400-67296000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr12:67295800-67296000	Enhancers	NHEK	skin
17	chr12:67295800-67296400	Enhancers	Small Intestine	intestine
18	chr12:67296000-67297600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr12:67296000-67297800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr12:67296000-67299000	Weak transcription	NHEK	skin
21	chr12:67296000-67300400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:67296200-67296400	Enhancers	HMEC	breast
23	chr12:67296200-67297600	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr12:67296200-67297800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr12:67296400-67296800	Weak transcription	Primary T cells from cord blood	blood
26	chr12:67296400-67298800	Weak transcription	HMEC	breast
27	chr12:67296800-67299800	Enhancers	Primary T cells from cord blood	blood
28	chr12:67297600-67298000	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr12:67297600-67298200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr12:67297800-67298200	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr12:67297800-67298200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr12:67298000-67298200	Enhancers	Colon Smooth Muscle	Colon
33	chr12:67298000-67298200	Enhancers	Psoas Muscle	Psoas
34	chr12:67298000-67303000	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr12:67298200-67298600	Weak transcription	Colon Smooth Muscle	Colon
36	chr12:67298200-67302600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr12:67298200-67302800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr12:67298200-67303000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr12:67298600-67299200	Enhancers	Colon Smooth Muscle	Colon
40	chr12:67298800-67299400	Enhancers	HMEC	breast
41	chr12:67298800-67299800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr12:67299000-67299400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr12:67299000-67299400	Enhancers	NHEK	skin
44	chr12:67299200-67302800	Weak transcription	Colon Smooth Muscle	Colon
45	chr12:67299400-67300600	Weak transcription	HMEC	breast
46	chr12:67299400-67300800	Weak transcription	NHEK	skin
47	chr12:67299400-67301200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr12:67299800-67300000	Weak transcription	Primary T cells from cord blood	blood
49	chr12:67299800-67300200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr12:67300000-67300400	Enhancers	Primary T cells from cord blood	blood

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