Variant report

Variant	esv2474492
Chromosome Location	chr12:76210533-76212017
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:76207915..76215391-chr12:76415099..76426528,21	MCF-7	breast:
2	chr12:76210515..76211180-chr12:76430859..76431384,2	MCF-7	breast:
3	chr12:76101957..76104575-chr12:76208488..76210993,2	MCF-7	breast:
4	chr12:76210484..76211077-chr12:76424868..76425432,2	MCF-7	breast:
5	chr12:76208408..76211857-chr12:76424020..76427077,5	MCF-7	breast:
6	chr12:76206336..76208559-chr12:76208892..76210700,2	MCF-7	breast:
7	chr12:76210474..76211264-chr12:76425201..76425766,3	MCF-7	breast:
8	chr12:76104914..76106748-chr12:76210203..76212356,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000257453	chromatin interactions
ENSG00000139289	chromatin interactions
ENSG00000257839	chromatin interactions

Extended variants
information (count: 46 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185082464	chr12:76210558-76210559	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs12303457	chr12:76210588-76210589	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs147999268	chr12:76210654-76210655	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs528257390	chr12:76210660-76210661	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs78558108	chr12:76210661-76210662	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs374566204	chr12:76210670-76210671	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs562844602	chr12:76210671-76210672	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs11180693	chr12:76210704-76210705	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs35061929	chr12:76210747-76210748	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs536750455	chr12:76210748-76210749	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs190953842	chr12:76210757-76210758	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs567142337	chr12:76210841-76210842	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs112316541	chr12:76210871-76210872	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs80144910	chr12:76210873-76210874	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs532646240	chr12:76210955-76210956	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs200018730	chr12:76210956-76210957	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs543817079	chr12:76210959-76210960	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs146358218	chr12:76210976-76210977	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs78589947	chr12:76211010-76211011	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs11180694	chr12:76211056-76211057	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs544373807	chr12:76211067-76211068	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs114283836	chr12:76211184-76211185	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs114837676	chr12:76211276-76211277	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs139778156	chr12:76211302-76211303	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs559189235	chr12:76211322-76211323	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs144498948	chr12:76211476-76211477	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs146075451	chr12:76211531-76211532	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs551114949	chr12:76211537-76211538	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs17115738	chr12:76211604-76211605	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs182783000	chr12:76211617-76211618	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs547142345	chr12:76211619-76211620	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs566833572	chr12:76211633-76211634	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs113529661	chr12:76211640-76211641	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs1732752	chr12:76211744-76211745	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs572281733	chr12:76211846-76211847	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs11611462	chr12:76211849-76211850	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs139693349	chr12:76211851-76211852	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs546632066	chr12:76211867-76211868	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs192196081	chr12:76211890-76211891	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs539340720	chr12:76211903-76211904	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs560865876	chr12:76211910-76211911	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs559152305	chr12:76211912-76211913	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs11180695	chr12:76211916-76211917	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs538463959	chr12:76211945-76211946	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs149761160	chr12:76211948-76211949	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs574893482	chr12:76211954-76211955	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
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
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
craniofacial dysmorphism	21918468	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	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
Hodgkin''s lymphoma	18641027	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21364760	CNVD
Melanoma	17363583	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:76203600-76212600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:76206600-76214400	Enhancers	NHDF-Ad	bronchial
3	chr12:76206600-76214600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr12:76206800-76210800	Weak transcription	Brain Anterior Caudate	brain
5	chr12:76206800-76213600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr12:76206800-76214400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:76207200-76214600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr12:76207600-76213200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr12:76208200-76211200	Enhancers	HMEC	breast
10	chr12:76208400-76210800	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr12:76208400-76211200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr12:76208600-76211000	Enhancers	Fetal Kidney	kidney
13	chr12:76208600-76211200	Enhancers	Osteobl	bone
14	chr12:76208800-76211400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr12:76208800-76211600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:76208800-76221200	Enhancers	NHLF	lung
17	chr12:76209000-76210800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr12:76209000-76213400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr12:76209000-76214000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr12:76209200-76213600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr12:76209400-76212400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr12:76209400-76212600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr12:76209400-76212600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:76209400-76214000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr12:76209400-76214400	Weak transcription	Fetal Lung	lung
26	chr12:76209600-76214000	Weak transcription	Stomach Smooth Muscle	stomach
27	chr12:76209800-76210800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr12:76209800-76210800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr12:76209800-76210800	Weak transcription	NH-A	brain
30	chr12:76209800-76211200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr12:76209800-76211400	Weak transcription	Right Atrium	heart
32	chr12:76209800-76211800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr12:76209800-76212400	Weak transcription	HSMMtube	muscle
34	chr12:76209800-76214200	Weak transcription	Adipose Nuclei	Adipose
35	chr12:76209800-76214400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:76209800-76214400	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr12:76209800-76214400	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr12:76209800-76214600	Weak transcription	Ovary	ovary
39	chr12:76209800-76216400	Weak transcription	Fetal Heart	heart
40	chr12:76210000-76210800	Weak transcription	Duodenum Mucosa	Duodenum
41	chr12:76210000-76211800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr12:76210000-76212200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr12:76210000-76212400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr12:76210000-76212600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr12:76210000-76214200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr12:76210000-76214200	Weak transcription	HSMM	muscle
47	chr12:76210000-76214800	Weak transcription	Colon Smooth Muscle	Colon
48	chr12:76210000-76215200	Weak transcription	Fetal Stomach	stomach
49	chr12:76210200-76210600	Weak transcription	HUVEC	blood vessel
50	chr12:76210200-76211400	Enhancers	A549	lung

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