Variant report

Variant	nsv521900
Chromosome Location	chr12:76212383-76215754
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:76207915..76215391-chr12:76415099..76426528,21	MCF-7	breast:
2	chr12:76215518..76217462-chr12:76234728..76237383,2	K562	blood:

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

Extended variants
information (count: 110 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1299468	chr12:76212383-76212384	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs560319315	chr12:76212387-76212388	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs532132749	chr12:76212395-76212396	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs184419727	chr12:76212417-76212418	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs569423658	chr12:76212443-76212444	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs532035508	chr12:76212511-76212512	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs548454332	chr12:76212533-76212534	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs1290030	chr12:76212584-76212585	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs534171023	chr12:76212612-76212613	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs567960979	chr12:76212627-76212628	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs553826846	chr12:76212669-76212670	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs112837057	chr12:76212677-76212678	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs568702468	chr12:76212684-76212685	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs11180697	chr12:76212688-76212689	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs539411721	chr12:76212718-76212719	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs78477703	chr12:76212816-76212817	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs73377001	chr12:76212820-76212821	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs575401033	chr12:76212823-76212824	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs544503026	chr12:76212873-76212874	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs377601829	chr12:76212881-76212882	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs147610378	chr12:76212914-76212915	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs574665189	chr12:76212988-76212989	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs190506810	chr12:76213040-76213041	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs75195805	chr12:76213106-76213107	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs10748289	chr12:76213147-76213148	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs570132122	chr12:76213188-76213189	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs111998300	chr12:76213229-76213230	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs373714518	chr12:76213234-76213235	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs10748290	chr12:76213252-76213253	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs34148649	chr12:76213284-76213285	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs146169244	chr12:76213352-76213353	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs571875474	chr12:76213464-76213465	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs534531955	chr12:76213472-76213473	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs148262997	chr12:76213481-76213482	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs140111327	chr12:76213482-76213483	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs112071829	chr12:76213484-76213485	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs73378903	chr12:76213498-76213499	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs569316379	chr12:76213513-76213514	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs570021319	chr12:76213528-76213529	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs535523568	chr12:76213542-76213543	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs554836377	chr12:76213575-76213576	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs574802979	chr12:76213610-76213611	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs533948871	chr12:76213717-76213718	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs574402239	chr12:76213834-76213835	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs373606831	chr12:76213853-76213854	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs554015685	chr12:76213893-76213894	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs576972791	chr12:76213915-76213916	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs192393161	chr12:76213947-76213948	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs552390019	chr12:76214000-76214001	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs543007461	chr12:76214026-76214027	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:158 , 50 per page) page: 1 2 3 4

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	chr12:76206800-76213600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr12:76206800-76214400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:76207200-76214600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr12:76207600-76213200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr12:76208800-76221200	Enhancers	NHLF	lung
9	chr12:76209000-76213400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr12:76209000-76214000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr12:76209200-76213600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr12:76209400-76212400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr12:76209400-76212600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr12:76209400-76212600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:76209400-76214000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr12:76209400-76214400	Weak transcription	Fetal Lung	lung
17	chr12:76209600-76214000	Weak transcription	Stomach Smooth Muscle	stomach
18	chr12:76209800-76212400	Weak transcription	HSMMtube	muscle
19	chr12:76209800-76214200	Weak transcription	Adipose Nuclei	Adipose
20	chr12:76209800-76214400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:76209800-76214400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr12:76209800-76214400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr12:76209800-76214600	Weak transcription	Ovary	ovary
24	chr12:76209800-76216400	Weak transcription	Fetal Heart	heart
25	chr12:76210000-76212400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr12:76210000-76212600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:76210000-76214200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:76210000-76214200	Weak transcription	HSMM	muscle
29	chr12:76210000-76214800	Weak transcription	Colon Smooth Muscle	Colon
30	chr12:76210000-76215200	Weak transcription	Fetal Stomach	stomach
31	chr12:76210200-76212400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr12:76210800-76213000	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr12:76211000-76212600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:76211000-76213200	Weak transcription	Fetal Kidney	kidney
35	chr12:76211200-76212400	Weak transcription	HMEC	breast
36	chr12:76211200-76212400	Weak transcription	Osteobl	bone
37	chr12:76211200-76214200	Weak transcription	NH-A	brain
38	chr12:76211400-76212400	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr12:76211400-76212600	Weak transcription	A549	lung
40	chr12:76211600-76212800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr12:76211800-76212400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr12:76211800-76213400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr12:76211800-76217200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr12:76212200-76213400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr12:76212200-76213600	Genic enhancers	NHEK	skin
46	chr12:76212400-76213000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr12:76212400-76213400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr12:76212400-76213400	Enhancers	HSMMtube	muscle
49	chr12:76212400-76214400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr12:76212400-76214400	Enhancers	Muscle Satellite Cultured Cells	--

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