Variant report

Variant	nsv519546
Chromosome Location	chr12:76247543-76255406
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:76242367..76248604-chr12:76422405..76426784,7	MCF-7	breast:
2	chr12:76248670..76251814-chr12:76255038..76258273,3	MCF-7	breast:
3	chr12:76248670..76251814-chr12:76255038..76258273,3	MCF-7	breast:
4	chr12:76244731..76246265-chr12:76247627..76249757,2	K562	blood:
5	chr12:76227743..76229832-chr12:76253957..76255546,2	MCF-7	breast:
6	chr12:76243477..76245855-chr12:76249457..76251726,2	K562	blood:

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

Extended variants
information (count: 309 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:309 , 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	rs1291266	chr12:76247543-76247544	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs189049780	chr12:76247576-76247577	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs147487485	chr12:76247585-76247586	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs565974510	chr12:76247609-76247610	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs74110022	chr12:76247640-76247641	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs368149708	chr12:76247656-76247657	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs551554210	chr12:76247667-76247668	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs571497731	chr12:76247720-76247721	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs555554159	chr12:76247955-76247956	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs557112254	chr12:76247956-76247957	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs567222543	chr12:76248023-76248024	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs111881582	chr12:76248090-76248091	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs568395513	chr12:76248098-76248099	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs139094404	chr12:76248099-76248100	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs368650442	chr12:76248100-76248101	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs192987315	chr12:76248123-76248124	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs185187121	chr12:76248126-76248127	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs187246006	chr12:76248127-76248128	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs56317758	chr12:76248133-76248134	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs573164867	chr12:76248215-76248216	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs191652986	chr12:76248216-76248217	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs558709567	chr12:76248229-76248230	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs575447265	chr12:76248242-76248243	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs113947487	chr12:76248331-76248332	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs561050547	chr12:76248350-76248351	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs116410728	chr12:76248397-76248398	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs540613210	chr12:76248487-76248488	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs560334085	chr12:76248576-76248577	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs528367912	chr12:76248580-76248581	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs183820939	chr12:76248584-76248585	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs571434391	chr12:76248607-76248608	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs139945786	chr12:76248623-76248624	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550652786	chr12:76248643-76248644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs117054706	chr12:76248644-76248645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536007076	chr12:76248647-76248648	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188099239	chr12:76248660-76248661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs74110023	chr12:76248662-76248663	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs539283781	chr12:76248673-76248674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs145259852	chr12:76248689-76248690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575388315	chr12:76248720-76248721	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574281465	chr12:76248724-76248725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs150981602	chr12:76248731-76248732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs77007111	chr12:76248760-76248761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540402437	chr12:76248783-76248784	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374347940	chr12:76248810-76248811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs370693283	chr12:76248814-76248815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs544418651	chr12:76248856-76248857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs540552877	chr12:76248870-76248871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs375232677	chr12:76248918-76248919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs545298150	chr12:76248959-76248960	Weak transcription Enhancers	n/a	n/a	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:143 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:76228600-76250000	Weak transcription	Pancreas	Pancrea
2	chr12:76241600-76248800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:76241600-76251000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:76242000-76247600	Enhancers	NHDF-Ad	bronchial
5	chr12:76242000-76249000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr12:76242200-76247800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:76243400-76253800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr12:76244000-76249000	Enhancers	HMEC	breast
9	chr12:76244000-76249200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:76244600-76249200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:76244800-76247600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:76245000-76247600	Weak transcription	Esophagus	oesophagus
13	chr12:76245000-76248400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr12:76245000-76248800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr12:76245000-76252200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr12:76245200-76247600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr12:76245200-76248400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr12:76245200-76256400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr12:76245800-76247800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:76245800-76247800	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr12:76246000-76248400	Weak transcription	HSMM	muscle
22	chr12:76246000-76255400	Weak transcription	A549	lung
23	chr12:76246200-76248400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr12:76246400-76247800	Enhancers	Brain Germinal Matrix	brain
25	chr12:76246400-76249800	Enhancers	NHEK	skin
26	chr12:76246600-76247800	Weak transcription	NHLF	lung
27	chr12:76246600-76248400	Weak transcription	Osteobl	bone
28	chr12:76246600-76248600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:76246800-76247800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr12:76246800-76248400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr12:76247000-76248000	Enhancers	Fetal Lung	lung
32	chr12:76247000-76248800	Enhancers	Fetal Kidney	kidney
33	chr12:76247000-76248800	Enhancers	HSMMtube	muscle
34	chr12:76247200-76247800	Enhancers	Primary hematopoietic stem cells	blood
35	chr12:76247200-76247800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr12:76247200-76247800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr12:76247200-76248000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr12:76247200-76249200	Enhancers	Fetal Muscle Leg	muscle
39	chr12:76247400-76247600	Enhancers	HUVEC	blood vessel
40	chr12:76247400-76247800	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr12:76247400-76247800	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr12:76247400-76247800	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr12:76247400-76247800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr12:76247400-76247800	Enhancers	Aorta	Aorta
45	chr12:76247400-76247800	Enhancers	Ovary	ovary
46	chr12:76247400-76248000	Enhancers	H9 Cell Line	embryonic stem cell
47	chr12:76247400-76248400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr12:76247400-76248600	Weak transcription	Adipose Nuclei	Adipose
49	chr12:76247600-76247800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
50	chr12:76247600-76247800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links