Variant report

Variant	nsv899302
Chromosome Location	chr12:75174462-75241816
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:36)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:75196228..75196971-chr12:75265351..75266301,5	MCF-7	breast:
2	chr12:75204290..75207004-chr12:75208185..75210235,2	MCF-7	breast:
3	chr12:75196803..75199256-chr12:75201157..75202833,2	MCF-7	breast:
4	chr12:75200349..75202777-chr12:75227441..75229232,2	MCF-7	breast:
5	chr12:75221574..75223298-chr12:75233563..75236001,2	MCF-7	breast:
6	chr12:75209417..75211529-chr12:75216257..75219142,2	MCF-7	breast:
7	chr12:75196304..75196971-chr12:75265353..75265934,3	MCF-7	breast:
8	chr12:75217500..75219685-chr12:75226685..75228290,2	MCF-7	breast:
9	chr12:75220854..75223807-chr12:75223959..75226966,3	MCF-7	breast:
10	chr12:75195069..75197266-chr12:75262838..75264849,2	MCF-7	breast:
11	chr12:75218292..75221665-chr12:75263288..75267484,3	MCF-7	breast:
12	chr12:75221574..75223298-chr12:75233563..75236001,2	MCF-7	breast:
13	chr12:75200349..75202777-chr12:75227441..75229232,2	MCF-7	breast:
14	chr12:75199743..75202580-chr12:75253148..75256018,2	MCF-7	breast:
15	chr12:75174683..75177641-chr12:75186836..75188465,2	MCF-7	breast:
16	chr12:75236955..75238898-chr12:75240406..75242003,2	MCF-7	breast:
17	chr12:75217500..75219685-chr12:75226685..75228290,2	MCF-7	breast:
18	chr12:75239042..75240714-chr12:75242382..75243969,2	K562	blood:
19	chr12:75174683..75177641-chr12:75186836..75188465,2	MCF-7	breast:
20	chr12:75207717..75210514-chr12:75285038..75287810,2	MCF-7	breast:
21	chr12:75234590..75237406-chr12:75238194..75240127,2	K562	blood:
22	chr12:75209417..75211529-chr12:75216257..75219142,2	MCF-7	breast:
23	chr12:75219556..75220294-chr12:75265374..75266060,2	MCF-7	breast:
24	chr12:75200335..75203093-chr12:75211063..75214907,4	MCF-7	breast:
25	chr12:75220852..75221505-chr12:75265376..75266253,2	MCF-7	breast:
26	chr12:75220854..75223807-chr12:75223959..75226966,3	MCF-7	breast:
27	chr12:75236955..75238898-chr12:75240406..75242003,2	MCF-7	breast:
28	chr12:75225171..75227023-chr12:75227244..75230873,3	K562	blood:
29	chr12:75196803..75199256-chr12:75201157..75202833,2	MCF-7	breast:
30	chr12:75197132..75197693-chr12:75727753..75728675,2	MCF-7	breast:
31	chr12:75204290..75207004-chr12:75208185..75210235,2	MCF-7	breast:
32	chr12:75225171..75227023-chr12:75227244..75230873,3	K562	blood:
33	chr12:75196597..75197191-chr12:75265299..75266255,3	MCF-7	breast:
34	chr12:75200335..75203093-chr12:75211063..75214907,4	MCF-7	breast:
35	chr12:75234590..75237406-chr12:75238194..75240127,2	K562	blood:
36	chr12:75082733..75083422-chr12:75196794..75197408,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000173401	chromatin interactions

Extended variants
information (count: 707 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:707 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10879839	chr12:75174462-75174463	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs191157331	chr12:75174498-75174499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs142550044	chr12:75174506-75174507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs78062902	chr12:75174552-75174553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs549030053	chr12:75174566-75174567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs374875338	chr12:75174592-75174593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540776666	chr12:75174693-75174694	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528420362	chr12:75174730-75174731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549857035	chr12:75174736-75174737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551667260	chr12:75174739-75174740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571899034	chr12:75174745-75174746	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537292075	chr12:75174756-75174757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551130482	chr12:75174773-75174774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567726388	chr12:75174776-75174777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535568082	chr12:75174839-75174840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs111901916	chr12:75174877-75174878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572080360	chr12:75174944-75174945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534593351	chr12:75174950-75174951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557815853	chr12:75174962-75174963	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs116333335	chr12:75174990-75174991	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529460971	chr12:75175007-75175008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139401326	chr12:75175045-75175046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563512113	chr12:75175082-75175083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143308425	chr12:75175120-75175121	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150412196	chr12:75175130-75175131	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559380435	chr12:75175185-75175186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528506742	chr12:75175188-75175189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs75630399	chr12:75175226-75175227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs371707506	chr12:75175323-75175324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs138131829	chr12:75175333-75175334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs536487194	chr12:75175337-75175338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs372352215	chr12:75175376-75175377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs149555365	chr12:75175426-75175427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553137401	chr12:75175453-75175454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs550965259	chr12:75175563-75175564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs147614651	chr12:75175570-75175571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs376694279	chr12:75175607-75175608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs530276653	chr12:75175644-75175645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs549143824	chr12:75175671-75175672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs144294243	chr12:75175686-75175687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs534632917	chr12:75175838-75175839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs566852195	chr12:75175893-75175894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs571120126	chr12:75175917-75175918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs537371677	chr12:75175936-75175937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs549205866	chr12:75175939-75175940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs556926969	chr12:75175976-75175977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs573506744	chr12:75176000-75176001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs542403843	chr12:75176006-75176007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs553096894	chr12:75176053-75176054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs369684881	chr12:75176063-75176064	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Breast cancer	17133270	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	21509527	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Osteosarcoma	21215367	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:75173200-75176600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr12:75173400-75176600	Enhancers	HUVEC	blood vessel
3	chr12:75173600-75176600	Enhancers	Muscle Satellite Cultured Cells	--
4	chr12:75173800-75176200	Enhancers	Osteobl	bone
5	chr12:75173800-75176400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr12:75173800-75176600	Enhancers	HSMM	muscle
7	chr12:75173800-75176600	Enhancers	HSMMtube	muscle
8	chr12:75174000-75175800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr12:75174200-75174600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr12:75174200-75176000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr12:75174200-75176600	Enhancers	NH-A	brain
12	chr12:75174400-75174800	Enhancers	Hela-S3	cervix
13	chr12:75174400-75176600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:75174600-75175000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr12:75174800-75175200	Weak transcription	Hela-S3	cervix
16	chr12:75175000-75176000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr12:75175200-75176400	Enhancers	Hela-S3	cervix
18	chr12:75175400-75176000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:75175600-75176000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr12:75175600-75176200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr12:75175600-75176200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr12:75175600-75176200	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr12:75175600-75176600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:75176600-75178200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr12:75178200-75179000	Enhancers	Muscle Satellite Cultured Cells	--
26	chr12:75184800-75185600	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr12:75184800-75185600	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr12:75185000-75185400	Enhancers	Hela-S3	cervix
29	chr12:75185000-75185600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr12:75185000-75185600	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr12:75185000-75185600	Enhancers	NH-A	brain
32	chr12:75185000-75185800	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr12:75185200-75185600	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr12:75185200-75185600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr12:75185600-75186600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr12:75186600-75188400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr12:75188200-75188800	Enhancers	HSMM	muscle
38	chr12:75195600-75196200	Enhancers	Fetal Intestine Small	intestine
39	chr12:75195600-75196600	Enhancers	Fetal Intestine Large	intestine
40	chr12:75195800-75196200	Enhancers	Liver	Liver
41	chr12:75209000-75210800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr12:75212200-75212800	Enhancers	Fetal Kidney	kidney
43	chr12:75212400-75212800	Enhancers	A549	lung
44	chr12:75212800-75213800	Weak transcription	A549	lung
45	chr12:75213600-75214200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
46	chr12:75213800-75214000	Enhancers	A549	lung
47	chr12:75213800-75214600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
48	chr12:75214400-75214600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr12:75217600-75217800	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr12:75230600-75231200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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