Variant report

Variant	nsv795
Chromosome Location	chr12:85893392-85938122
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:85905968..85908916-chr17:58676509..58679332,2	MCF-7	breast:
2	chr12:85916869..85918658-chr12:85921402..85924342,2	K562	blood:
3	chr12:85930199..85932678-chr12:85934950..85937006,2	K562	blood:
4	chr12:85930199..85932678-chr12:85934950..85937006,2	K562	blood:
5	chr12:85916869..85918658-chr12:85921402..85924342,2	K562	blood:
6	chr12:85908005..85909863-chr12:85911172..85913825,2	MCF-7	breast:
7	chr12:85889329..85890032-chr12:85900621..85901187,2	MCF-7	breast:
8	chr12:85908005..85909863-chr12:85911172..85913825,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000170836	chromatin interactions

Extended variants
information (count: 939 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:939 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534004121	chr12:85897618-85897619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs114672784	chr12:85897627-85897628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183988433	chr12:85897632-85897633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537687249	chr12:85897648-85897649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556421247	chr12:85897748-85897749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577962980	chr12:85897749-85897750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7297262	chr12:85897800-85897801	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs553768461	chr12:85897819-85897820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs572092684	chr12:85897832-85897833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539329344	chr12:85897860-85897861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577561753	chr12:85897878-85897879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543075968	chr12:85897914-85897915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs529479102	chr12:85897926-85897927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs557203095	chr12:85897930-85897931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544524949	chr12:85897955-85897956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs188029225	chr12:85897983-85897984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557682769	chr12:85897994-85897995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs180891102	chr12:85898008-85898009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs551681780	chr12:85898327-85898328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs185486129	chr12:85898335-85898336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs527719739	chr12:85898382-85898383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs549448079	chr12:85898386-85898387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs567701652	chr12:85898423-85898424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs538341843	chr12:85898514-85898515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs556043456	chr12:85898521-85898522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs571481467	chr12:85898523-85898524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs538907470	chr12:85898549-85898550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs190757347	chr12:85898561-85898562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs572052992	chr12:85898564-85898565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs75075441	chr12:85898582-85898583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs554644389	chr12:85898600-85898601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs573964223	chr12:85902615-85902616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs561876109	chr12:85902642-85902643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs183932525	chr12:85902726-85902727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs573580425	chr12:85902753-85902754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs186310470	chr12:85902789-85902790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs562477534	chr12:85902790-85902791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs545339287	chr12:85902869-85902870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs533027756	chr12:85902888-85902889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs76054706	chr12:85902890-85902891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs199724173	chr12:85902898-85902899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs528715023	chr12:85902977-85902978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555977464	chr12:85902992-85902993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs147211527	chr12:85902993-85902994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs190430255	chr12:85903004-85903005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs568703287	chr12:85903021-85903022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs529592524	chr12:85903028-85903029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs550921980	chr12:85903059-85903060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs182974739	chr12:85903094-85903095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs568926850	chr12:85903107-85903108	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
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
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
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21364760	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:85897600-85898600	Enhancers	Liver	Liver
2	chr12:85902600-85903200	Enhancers	GM12878-XiMat	blood
3	chr12:85902600-85903600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:85902600-85904000	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr12:85902600-85904000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:85902800-85903600	Enhancers	Primary B cells from peripheral blood	blood
7	chr12:85902800-85903800	Enhancers	Primary hematopoietic stem cells	blood
8	chr12:85902800-85903800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:85902800-85903800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr12:85903000-85903800	Enhancers	Thymus	Thymus
11	chr12:85903200-85903600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:85903200-85903600	Flanking Active TSS	GM12878-XiMat	blood
13	chr12:85903600-85904200	Enhancers	GM12878-XiMat	blood
14	chr12:85903600-85911400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:85908200-85908600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr12:85908600-85908800	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr12:85908600-85912400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr12:85909200-85909400	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr12:85909400-85912200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr12:85910000-85913000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:85910600-85911000	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr12:85910600-85911000	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr12:85910600-85911000	Enhancers	NHEK	skin
24	chr12:85910600-85911200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr12:85910800-85911000	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr12:85910800-85911000	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr12:85910800-85911200	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr12:85911000-85912200	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr12:85911000-85912400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr12:85911000-85912600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr12:85911200-85912200	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr12:85911200-85912200	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr12:85911200-85912400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr12:85911400-85912800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr12:85912200-85912800	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr12:85912200-85913800	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr12:85912200-85913800	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr12:85912200-85913800	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr12:85912400-85912600	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr12:85912400-85912800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
41	chr12:85912400-85913200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr12:85912400-85913200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr12:85912400-85914000	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr12:85912600-85913000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr12:85912600-85913800	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr12:85912800-85913000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr12:85912800-85913200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr12:85913000-85913200	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr12:85913000-85913400	Enhancers	H1 Cell Line	embryonic stem cell
50	chr12:85913000-85913400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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