Variant report

Variant	nsv559389
Chromosome Location	chr12:74307540-74405036
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:5)
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	chr12:74294795..74296655-chr12:74314771..74316525,2	K562	blood:
2	chr12:74338246..74340293-chr17:57922225..57924227,2	MCF-7	breast:
3	chr12:74300999..74303492-chr12:74306818..74309570,2	K562	blood:
4	chr12:74326236..74328077-chr12:74328827..74331756,2	K562	blood:
5	chr12:74389722..74391980-chr12:74584509..74586133,2	K562	blood:
6	chr12:74326236..74328077-chr12:74328827..74331756,2	K562	blood:
7	chr12:73777376..73778236-chr12:74310356..74311136,2	MCF-7	breast:
8	chr12:74329268..74329785-chr12:74806142..74806934,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCNC2-4	chr12:74335897-74335956	ENSG00000258109
2	lnc-ATXN7L3B-2	chr12:74312978-74313117	ENSG00000257587
3	lnc-ATXN7L3B-2	chr12:74307737-74307803	ENSG00000257587
4	lnc-ATXN7L3B-2	chr12:74310012-74310064	XLOC_009804
5	lnc-ATXN7L3B-2	chr12:74312978-74313300	XLOC_009804

No data

Variant related genes	Relation type
PLXNB2	miRNA target sites

Extended variants
information (count: 375 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:375 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375541954	chr12:74307785-74307786	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs551616147	chr12:74313013-74313014	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs553684308	chr12:74313063-74313064	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs12300867	chr12:74313125-74313126	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs545875725	chr12:74313126-74313127	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs372306408	chr12:74313143-74313144	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs59324603	chr12:74313150-74313151	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs143961902	chr12:74313155-74313156	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs528820937	chr12:74314807-74314808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552032519	chr12:74314831-74314832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571818027	chr12:74314832-74314833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs143949918	chr12:74314842-74314843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146389188	chr12:74314854-74314855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs139531602	chr12:74314862-74314863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535539899	chr12:74314866-74314867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555640679	chr12:74314868-74314869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs368833248	chr12:74314917-74314918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs540995059	chr12:74314991-74314992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs567934098	chr12:74315042-74315043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs369699452	chr12:74315056-74315057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs149975841	chr12:74315121-74315122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs377450339	chr12:74315122-74315123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs563340131	chr12:74315145-74315146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs111979212	chr12:74326009-74326010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs557399092	chr12:74326052-74326053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs574165283	chr12:74326090-74326091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs192295107	chr12:74326136-74326137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs559797683	chr12:74326194-74326195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs184661319	chr12:74326211-74326212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541069952	chr12:74326214-74326215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs564057965	chr12:74326239-74326240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs146037965	chr12:74326301-74326302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs549744140	chr12:74332418-74332419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs181446622	chr12:74332419-74332420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs576183537	chr12:74332460-74332461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs34922321	chr12:74332498-74332499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs534259583	chr12:74332523-74332524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs529028674	chr12:74332537-74332538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs548882623	chr12:74332543-74332544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs141633939	chr12:74332561-74332562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs547304215	chr12:74339050-74339051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs564326578	chr12:74339085-74339086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs562712304	chr12:74339106-74339107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs144541058	chr12:74339176-74339177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs569569596	chr12:74339182-74339183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs535504468	chr12:74339187-74339188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs548958463	chr12:74339277-74339278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs7311068	chr12:74339372-74339373	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs535098410	chr12:74339399-74339400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs376717942	chr12:74339410-74339411	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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	21364760	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	22037309	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:74314800-74315200	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr12:74326000-74326400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:74332400-74332600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:74339000-74339800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:74339400-74339800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:74339800-74343600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:74343400-74343600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr12:74343400-74345000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr12:74343400-74345200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr12:74343600-74344600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr12:74343600-74344800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:74343600-74344800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr12:74343600-74345200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:74343600-74346000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr12:74344000-74344600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:74344000-74344800	Enhancers	Brain Hippocampus Middle	brain
17	chr12:74344200-74344800	Enhancers	Brain Cingulate Gyrus	brain
18	chr12:74344200-74344800	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr12:74344400-74344800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:74344600-74345000	Enhancers	Brain Anterior Caudate	brain
21	chr12:74344800-74345000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:74345000-74345800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:74345000-74346000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr12:74345200-74346000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr12:74345800-74346000	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
26	chr12:74345800-74346400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:74346000-74346200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr12:74346000-74346200	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr12:74346400-74346600	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr12:74367000-74368000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr12:74367200-74367600	Enhancers	Brain Germinal Matrix	brain
32	chr12:74367600-74368000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr12:74371800-74372200	Enhancers	H1 Cell Line	embryonic stem cell
34	chr12:74390600-74391000	Enhancers	Brain Hippocampus Middle	brain
35	chr12:74404800-74405000	Enhancers	H9 Cell Line	embryonic stem cell
36	chr12:74404800-74405600	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr12:74404800-74406000	Enhancers	H1 Cell Line	embryonic stem cell
38	chr12:74404800-74406000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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