Variant report

Variant	nsv1039272
Chromosome Location	chr12:40817585-40841318
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:213)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:24)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:213 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:40840290-40840374	K562	blood:	n/a	n/a
2	ATF2	chr12:40830307-40830707	GM12878	blood:	n/a	n/a
3	BHLHE40	chr12:40832068-40832069	K562	blood:	n/a	n/a
4	CEBPB	chr12:40818440-40818807	HepG2	liver:	n/a	chr12:40818529-40818540 chr12:40818717-40818728
5	CEBPB	chr12:40818440-40818848	A549	lung:	n/a	chr12:40818529-40818540 chr12:40818717-40818728
6	CEBPB	chr12:40826439-40826590	A549	lung:	n/a	n/a
7	CEBPB	chr12:40818598-40818846	IMR90	lung:	n/a	chr12:40818717-40818728
8	CEBPB	chr12:40837421-40837422	K562	blood:	n/a	n/a
9	CTCF	chr12:40840166-40840628	MCF-7	breast:	n/a	n/a
10	CTCF	chr12:40840281-40840487	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr12:40840360-40840510	GM12872	blood:	n/a	n/a
12	CTCF	chr12:40840259-40840508	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr12:40840320-40840470	GM12865	blood:	n/a	n/a
14	CTCF	chr12:40840260-40840410	HRE	kidney:	n/a	n/a
15	CTCF	chr12:40840340-40840490	HRE	kidney:	n/a	n/a
16	CTCF	chr12:40833088-40833181	GM13976	blood:	n/a	n/a
17	CTCF	chr12:40840300-40840450	GM06990	blood:	n/a	n/a
18	CTCF	chr12:40840260-40840410	HRPEpiC	eye:	n/a	n/a
19	CTCF	chr12:40840300-40840450	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr12:40840200-40840350	HAc	cerebellar:	n/a	n/a
21	CTCF	chr12:40840300-40840450	GM12874	blood:	n/a	n/a
22	CTCF	chr12:40840420-40840570	A549	lung:	n/a	n/a
23	CTCF	chr12:40840275-40840508	HUVEC	blood vessel:	n/a	n/a
24	CTCF	chr12:40840280-40840430	HA-sp	spinal cord:	n/a	n/a
25	CTCF	chr12:40839960-40840110	BJ	skin:	n/a	n/a
26	CTCF	chr12:40840211-40840461	A549	lung:	n/a	n/a
27	CTCF	chr12:40840279-40840492	GM13977	blood:	n/a	n/a
28	CTCF	chr12:40840320-40840470	AG10803	skin:	n/a	n/a
29	CTCF	chr12:40840300-40840450	BJ	skin:	n/a	n/a
30	CTCF	chr12:40840291-40840465	HepG2	liver:	n/a	n/a
31	CTCF	chr12:40840340-40840490	GM12864	blood:	n/a	n/a
32	CTCF	chr12:40840280-40840430	BE2_C	brain:	n/a	n/a
33	CTCF	chr12:40832518-40832566	Fibrobl	skin:	n/a	n/a
34	CTCF	chr12:40840356-40840440	Lung_OC	lung:	n/a	n/a
35	CTCF	chr12:40840284-40840487	GM10266	blood:	n/a	n/a
36	CTCF	chr12:40840340-40840490	HMF	breast:	n/a	n/a
37	CTCF	chr12:40840202-40840518	SK-N-SH_RA	brain:	n/a	n/a
38	CTCF	chr12:40840280-40840472	GM10248	blood:	n/a	n/a
39	CTCF	chr12:40840320-40840470	GM12866	blood:	n/a	n/a
40	CTCF	chr12:40840320-40840470	Caco-2	colon:	n/a	n/a
41	CTCF	chr12:40840200-40840350	HCPEpiC	choroid plexus:	n/a	n/a
42	CTCF	chr12:40840280-40840430	MCF-7	breast:	n/a	n/a
43	CTCF	chr12:40840340-40840490	HA-sp	spinal cord:	n/a	n/a
44	CTCF	chr12:40840280-40840430	GM12871	blood:	n/a	n/a
45	CTCF	chr12:40840280-40840430	HCFaa	heart:	n/a	n/a
46	CTCF	chr12:40840320-40840470	GM12875	blood:	n/a	n/a
47	CTCF	chr12:40840280-40840430	AG04449	skin:	n/a	n/a
48	CTCF	chr12:40840101-40840731	SK-N-SH	brain:	n/a	n/a
49	CTCF	chr12:40840281-40840451	MCF-7	breast:	n/a	n/a
50	CTCF	chr12:40840211-40840478	HepG2	liver:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:40719158..40719845-chr12:40839913..40840458,2	MCF-7	breast:
2	12:40793507-40812339..12:40836437-40839614	H1-hESC	embryonic stem cell:	embryo

(count:24 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MUC19-1	chr12:40826180-40826264	NONHSAT027728
2	lnc-MUC19-1	chr12:40834526-40834626	NONHSAT027728
3	lnc-MUC19-1	chr12:40836878-40836982	NONHSAT027728
4	lnc-MUC19-1	chr12:40834376-40834428	NONHSAT027728
5	lnc-MUC19-1	chr12:40834863-40835014	NONHSAT027728
6	lnc-MUC19-1	chr12:40820209-40820419	NONHSAT027728
7	lnc-MUC19-1	chr12:40838191-40838347	NONHSAT027728
8	lnc-MUC19-1	chr12:40823344-40823479	NONHSAT027728
9	lnc-MUC19-1	chr12:40825428-40825520	NONHSAT027728
10	lnc-MUC19-1	chr12:40841127-40841158	NONHSAT027728
11	lnc-MUC19-1	chr12:40839321-40839446	NONHSAT027728
12	lnc-MUC19-1	chr12:40821772-40821895	NONHSAT027728
13	lnc-MUC19-1	chr12:40837879-40838118	NONHSAT027728
14	lnc-MUC19-1	chr12:40831930-40832176	NONHSAT027728
15	lnc-SLC2A13-3	chr12:40837625-40837649	ENSG00000258167.1
16	lnc-MUC19-1	chr12:40830419-40830545	NONHSAT027728
17	lnc-MUC19-1	chr12:40821176-40821298	NONHSAT027728
18	lnc-MUC19-1	chr12:40840290-40840431	NONHSAT027728
19	lnc-MUC19-1	chr12:40827566-40827715	NONHSAT027728
20	lnc-MUC19-1	chr12:40835674-40835812	NONHSAT027728
21	lnc-MUC19-1	chr12:40829899-40829993	NONHSAT027728
22	lnc-MUC19-1	chr12:40837068-40837262	NONHSAT027728
23	lnc-SLC2A13-3	chr12:40834873-40834900	XLOC_010054
24	lnc-MUC19-1	chr12:40826429-40826566	NONHSAT027728

No data

Variant related genes	Relation type
ENSG00000258167	TF binding region
MUC19	TF binding region
ENSG00000205592	chromatin interactions

Extended variants
information (count: 431 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:431 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369231208	chr12:40818259-40818260	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs7972535	chr12:40818260-40818261	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs531116611	chr12:40818282-40818283	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs182535445	chr12:40818296-40818297	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs12425677	chr12:40818450-40818451	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs532812534	chr12:40818457-40818458	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs12425678	chr12:40818462-40818463	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs74076504	chr12:40818481-40818482	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs146029406	chr12:40818496-40818497	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs555118526	chr12:40818551-40818552	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs139672245	chr12:40818659-40818660	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs567362228	chr12:40818672-40818673	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs549254684	chr12:40818712-40818713	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs551339971	chr12:40818724-40818725	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs553217697	chr12:40818765-40818766	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs10590770	chr12:40818766-40818767	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs398019205	chr12:40818769-40818770	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs577967292	chr12:40818772-40818773	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs545458136	chr12:40818774-40818775	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs538084109	chr12:40818786-40818787	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs138773151	chr12:40818787-40818788	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs556062218	chr12:40818792-40818793	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs575961490	chr12:40818853-40818854	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs565434385	chr12:40820239-40820240	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs144166248	chr12:40820240-40820241	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs75634075	chr12:40820245-40820246	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs371988285	chr12:40820247-40820248	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs140154105	chr12:40820253-40820254	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs554131026	chr12:40820268-40820269	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs548258640	chr12:40820295-40820296	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs566872046	chr12:40820347-40820348	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs550397578	chr12:40820354-40820355	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs558854000	chr12:40820396-40820397	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs11564249	chr12:40820403-40820404	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs28365245	chr12:40820406-40820407	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs7955308	chr12:40821176-40821177	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs572740906	chr12:40821177-40821178	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs540194750	chr12:40821200-40821201	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs558588008	chr12:40821218-40821219	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs577180882	chr12:40821221-40821222	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs17467263	chr12:40821278-40821279	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs186094107	chr12:40821282-40821283	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs61736852	chr12:40821795-40821796	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs11176584	chr12:40821839-40821840	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs11564170	chr12:40821847-40821848	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs7958987	chr12:40821867-40821868	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs143195891	chr12:40821870-40821871	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs17467284	chr12:40821871-40821872	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs529562667	chr12:40821876-40821877	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs73101540	chr12:40821881-40821882	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	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
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40830000-40830600	Enhancers	Fetal Heart	heart
2	chr12:40830000-40830800	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr12:40833000-40834600	Enhancers	HMEC	breast
4	chr12:40833400-40834600	Enhancers	NHEK	skin
5	chr12:40833600-40834400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:40838000-40838400	Enhancers	Pancreas	Pancrea
7	chr12:40839000-40841000	Enhancers	Fetal Heart	heart
8	chr12:40839400-40840000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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