Variant report

Variant	nsv819689
Chromosome Location	chr12:124497375-124499998
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	chr12:124196789..124198496-chr12:124499802..124501638,2	MCF-7	breast:
2	chr12:124492436..124495836-chr12:124497804..124500865,3	K562	blood:

Variant related genes	Relation type
ENSG00000185344	chromatin interactions

Extended variants
information (count: 119 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:119 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142961134	chr12:124497439-124497440	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs200151778	chr12:124497480-124497481	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs370677465	chr12:124497497-124497498	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs374127692	chr12:124497502-124497503	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs375942808	chr12:124497505-124497506	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs371696940	chr12:124497511-124497512	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs370177316	chr12:124497512-124497513	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs374733129	chr12:124497546-124497547	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs146809803	chr12:124497548-124497549	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs543182856	chr12:124497550-124497551	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs561246970	chr12:124497555-124497556	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs34498917	chr12:124497559-124497560	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs570428397	chr12:124497564-124497565	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs373153449	chr12:124497565-124497566	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs555324570	chr12:124497569-124497570	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs374781054	chr12:124497570-124497571	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs540243024	chr12:124497578-124497579	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs564890281	chr12:124497589-124497590	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs187782684	chr12:124497651-124497652	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs551305598	chr12:124497663-124497664	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs537056921	chr12:124497688-124497689	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs569919949	chr12:124497694-124497695	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs369181014	chr12:124497713-124497714	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs557462113	chr12:124497717-124497718	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs549125175	chr12:124497732-124497733	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs557197631	chr12:124497784-124497785	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs140629476	chr12:124497839-124497840	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs534664301	chr12:124497870-124497871	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs192895177	chr12:124497915-124497916	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs543332475	chr12:124497926-124497927	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs145709414	chr12:124497927-124497928	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs538622612	chr12:124497933-124497934	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs537683988	chr12:124497958-124497959	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs557713901	chr12:124497968-124497969	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs182809191	chr12:124498002-124498003	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs187030362	chr12:124498017-124498018	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs138393796	chr12:124498045-124498046	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs558772337	chr12:124498063-124498064	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs577604577	chr12:124498106-124498107	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs540374479	chr12:124498134-124498135	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs141046617	chr12:124498136-124498137	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs532407468	chr12:124498149-124498150	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544180670	chr12:124498199-124498200	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs563458410	chr12:124498250-124498251	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs34913500	chr12:124498251-124498252	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs530791307	chr12:124498278-124498279	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs548906547	chr12:124498284-124498285	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs567497257	chr12:124498300-124498301	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs528284287	chr12:124498303-124498304	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs78005948	chr12:124498324-124498325	Weak transcription Strong transcription Genic enhancers	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:240 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124484400-124498400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:124485000-124498800	Strong transcription	Hela-S3	cervix
3	chr12:124488400-124498400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr12:124489200-124510400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:124490400-124498800	Strong transcription	Rectal Mucosa Donor 29	rectum
6	chr12:124490400-124500400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:124491000-124497600	Weak transcription	Colonic Mucosa	Colon
8	chr12:124491600-124498400	Strong transcription	Placenta	Placenta
9	chr12:124491600-124499400	Strong transcription	Duodenum Mucosa	Duodenum
10	chr12:124491800-124497800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr12:124492200-124498000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:124492600-124499200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr12:124493000-124500200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:124493000-124501400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr12:124493000-124501600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:124493000-124503200	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr12:124493200-124501200	Strong transcription	Fetal Stomach	stomach
18	chr12:124493400-124499800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr12:124493600-124503200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr12:124493600-124505400	Weak transcription	Right Atrium	heart
21	chr12:124493800-124499000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr12:124494200-124500600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:124494400-124497800	Strong transcription	NHDF-Ad	bronchial
24	chr12:124494400-124498000	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr12:124494400-124498000	Strong transcription	K562	blood
26	chr12:124494400-124498400	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr12:124494400-124498600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr12:124494400-124498600	Strong transcription	Primary B cells from cord blood	blood
29	chr12:124494400-124499200	Strong transcription	Fetal Kidney	kidney
30	chr12:124494400-124500400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr12:124494600-124499400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr12:124494800-124498000	Strong transcription	HUVEC	blood vessel
33	chr12:124494800-124498400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr12:124494800-124498600	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr12:124494800-124499400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr12:124495000-124498200	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr12:124495000-124498400	Strong transcription	Primary B cells from peripheral blood	blood
38	chr12:124495000-124498400	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr12:124495000-124498400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr12:124495000-124498400	Strong transcription	Dnd41	blood
41	chr12:124495000-124498600	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr12:124495000-124498600	Strong transcription	Adipose Nuclei	Adipose
43	chr12:124495000-124498600	Strong transcription	A549	lung
44	chr12:124495000-124498600	Strong transcription	NH-A	brain
45	chr12:124495000-124499600	Strong transcription	Fetal Muscle Leg	muscle
46	chr12:124495000-124500000	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr12:124495000-124500200	Strong transcription	HSMM	muscle
48	chr12:124495000-124500400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr12:124495000-124500600	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr12:124495000-124500800	Strong transcription	Fetal Muscle Trunk	muscle

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