Variant report

Variant	nsv560537
Chromosome Location	chr12:124496316-124499839
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:124491034..124493507-chr12:124494589..124496940,2	MCF-7	breast:
2	chr12:124440660..124443329-chr12:124494503..124496915,2	K562	blood:
3	chr12:124492436..124495836-chr12:124497804..124500865,3	K562	blood:
4	chr12:124196789..124198496-chr12:124499802..124501638,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185344	chromatin interactions

Extended variants
information (count: 161 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:161 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1054852	chr12:124496316-124496317	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs565615287	chr12:124496354-124496355	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs189757125	chr12:124496355-124496356	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551490961	chr12:124496371-124496372	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs181442942	chr12:124496420-124496421	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs142294299	chr12:124496428-124496429	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564866999	chr12:124496449-124496450	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536701234	chr12:124496474-124496475	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555440431	chr12:124496482-124496483	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs530570710	chr12:124496518-124496519	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573597891	chr12:124496519-124496520	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs541008757	chr12:124496520-124496521	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs550849956	chr12:124496559-124496560	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs578240940	chr12:124496582-124496583	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186047104	chr12:124496587-124496588	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563822718	chr12:124496622-124496623	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs376791554	chr12:124496644-124496645	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs200362520	chr12:124496656-124496657	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs117061283	chr12:124496664-124496665	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs202221802	chr12:124496670-124496671	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs201269090	chr12:124496680-124496681	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs377339551	chr12:124496711-124496712	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs546946621	chr12:124496724-124496725	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546497640	chr12:124496766-124496767	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs146433322	chr12:124496771-124496772	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs565655288	chr12:124496796-124496797	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs140776110	chr12:124496818-124496819	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs144690940	chr12:124496838-124496839	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs80197353	chr12:124496864-124496865	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs77486297	chr12:124496903-124496904	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs74746872	chr12:124496906-124496907	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs200835492	chr12:124496961-124496962	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs200343451	chr12:124497048-124497049	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs117836072	chr12:124497105-124497106	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs150362388	chr12:124497113-124497114	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs186329168	chr12:124497159-124497160	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs376066644	chr12:124497162-124497163	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs377752073	chr12:124497177-124497178	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs573660031	chr12:124497213-124497214	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs138031514	chr12:124497227-124497228	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs370192975	chr12:124497243-124497244	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs146116095	chr12:124497263-124497264	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs534335678	chr12:124497306-124497307	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs191180039	chr12:124497312-124497313	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs139061700	chr12:124497327-124497328	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs142961134	chr12:124497439-124497440	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs200151778	chr12:124497480-124497481	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs370677465	chr12:124497497-124497498	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs374127692	chr12:124497502-124497503	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs375942808	chr12:124497505-124497506	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
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
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	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
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:262 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124461200-124496800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr12:124484400-124498400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:124485000-124498800	Strong transcription	Hela-S3	cervix
4	chr12:124486000-124496400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr12:124488400-124498400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr12:124489200-124510400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:124490400-124498800	Strong transcription	Rectal Mucosa Donor 29	rectum
8	chr12:124490400-124500400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr12:124491000-124497000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:124491000-124497600	Weak transcription	Colonic Mucosa	Colon
11	chr12:124491600-124498400	Strong transcription	Placenta	Placenta
12	chr12:124491600-124499400	Strong transcription	Duodenum Mucosa	Duodenum
13	chr12:124491800-124497800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr12:124492200-124496800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr12:124492200-124498000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:124492600-124496400	Weak transcription	Aorta	Aorta
17	chr12:124492600-124499200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr12:124493000-124496400	Weak transcription	Fetal Heart	heart
19	chr12:124493000-124500200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:124493000-124501400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr12:124493000-124501600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr12:124493000-124503200	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr12:124493200-124496800	Weak transcription	Stomach Mucosa	stomach
24	chr12:124493200-124501200	Strong transcription	Fetal Stomach	stomach
25	chr12:124493400-124497200	Weak transcription	Psoas Muscle	Psoas
26	chr12:124493400-124499800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr12:124493600-124496400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr12:124493600-124496400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr12:124493600-124496400	Weak transcription	Fetal Brain Male	brain
30	chr12:124493600-124496400	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr12:124493600-124497000	Weak transcription	Pancreas	Pancrea
32	chr12:124493600-124497000	Weak transcription	Right Ventricle	heart
33	chr12:124493600-124503200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr12:124493600-124505400	Weak transcription	Right Atrium	heart
35	chr12:124493800-124499000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr12:124494200-124500600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:124494400-124497800	Strong transcription	NHDF-Ad	bronchial
38	chr12:124494400-124498000	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr12:124494400-124498000	Strong transcription	K562	blood
40	chr12:124494400-124498400	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr12:124494400-124498600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr12:124494400-124498600	Strong transcription	Primary B cells from cord blood	blood
43	chr12:124494400-124499200	Strong transcription	Fetal Kidney	kidney
44	chr12:124494400-124500400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr12:124494600-124499400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr12:124494800-124498000	Strong transcription	HUVEC	blood vessel
47	chr12:124494800-124498400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr12:124494800-124498600	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr12:124494800-124499400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr12:124495000-124497000	Genic enhancers	Fetal Intestine Large	intestine

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