Variant report

Variant	nsv1053658
Chromosome Location	chr12:74235121-74366748
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr12:74282572-74282667	K562	blood:	n/a	n/a
2	BACH1	chr12:74354623-74354751	K562	blood:	n/a	n/a
3	CEBPB	chr12:74333490-74333716	HepG2	liver:	n/a	chr12:74333596-74333607
4	CEBPB	chr12:74346185-74346449	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr12:74287777-74287783	K562	blood:	n/a	n/a
6	CEBPB	chr12:74352692-74352867	A549	lung:	n/a	chr12:74352726-74352737
7	CEBPB	chr12:74328114-74328196	HepG2	liver:	n/a	chr12:74328137-74328148 chr12:74328137-74328150 chr12:74328138-74328149
8	CEBPB	chr12:74355992-74356257	HepG2	liver:	n/a	chr12:74356100-74356111
9	CEBPB	chr12:74340620-74340772	HepG2	liver:	n/a	chr12:74340726-74340737
10	CEBPB	chr12:74354525-74354712	HepG2	liver:	n/a	n/a
11	CEBPB	chr12:74287654-74287786	H1-hESC	embryonic stem cell:	n/a	n/a
12	CEBPB	chr12:74328118-74328249	A549	lung:	n/a	chr12:74328137-74328148 chr12:74328137-74328150 chr12:74328138-74328149
13	CEBPB	chr12:74286000-74286226	A549	lung:	n/a	n/a
14	CEBPB	chr12:74306054-74306134	K562	blood:	n/a	n/a
15	CEBPB	chr12:74352646-74352897	HepG2	liver:	n/a	chr12:74352726-74352737
16	CEBPB	chr12:74362993-74363267	A549	lung:	n/a	chr12:74363150-74363161 chr12:74363150-74363159 chr12:74363150-74363159 chr12:74363150-74363159 chr12:74363215-74363226 chr12:74363125-74363137 chr12:74363150-74363159
17	CEBPB	chr12:74363029-74363312	IMR90	lung:	n/a	chr12:74363150-74363161 chr12:74363150-74363159 chr12:74363150-74363159 chr12:74363150-74363159 chr12:74363215-74363226 chr12:74363125-74363137 chr12:74363150-74363159
18	CEBPB	chr12:74356715-74356913	HepG2	liver:	n/a	chr12:74356844-74356855 chr12:74356844-74356857 chr12:74356845-74356856 chr12:74356844-74356857
19	CEBPB	chr12:74306033-74306199	HepG2	liver:	n/a	n/a
20	CTCF	chr12:74329660-74329810	HMEC	breast:	n/a	n/a
21	CTCF	chr12:74329640-74329790	GM12866	blood:	n/a	n/a
22	CTCF	chr12:74329660-74329794	HepG2	liver:	n/a	n/a
23	CTCF	chr12:74329660-74329810	RPTEC	kidney:	n/a	n/a
24	CTCF	chr12:74329660-74329810	HA-sp	spinal cord:	n/a	n/a
25	CTCF	chr12:74329673-74329743	GM12878	blood:	n/a	n/a
26	CTCF	chr12:74329381-74329412	MCF-7	breast:	n/a	n/a
27	CTCF	chr12:74329640-74329790	HPAF	blood vessel:	n/a	n/a
28	CTCF	chr12:74329680-74329830	GM12872	blood:	n/a	n/a
29	CTCF	chr12:74329600-74329750	NHEK	skin:	n/a	n/a
30	CTCF	chr12:74329680-74329830	Caco-2	colon:	n/a	n/a
31	CTCF	chr12:74329646-74329861	MCF-7	breast:	n/a	n/a
32	CTCF	chr12:74329600-74329750	Caco-2	colon:	n/a	n/a
33	CTCF	chr12:74329620-74329770	HRPEpiC	eye:	n/a	n/a
34	CTCF	chr12:74329640-74329790	HCT-116	colon:	n/a	n/a
35	CTCF	chr12:74329702-74329819	NHEK	skin:	n/a	n/a
36	CTCF	chr12:74297808-74297888	Fibrobl	skin:	n/a	n/a
37	CTCF	chr12:74329800-74329950	GM12867	blood:	n/a	n/a
38	CTCF	chr12:74329720-74329870	GM12871	blood:	n/a	n/a
39	CTCF	chr12:74329623-74329868	MCF-7	breast:	n/a	n/a
40	CTCF	chr12:74329660-74329810	HBMEC	blood vessel:	n/a	n/a
41	CTCF	chr12:74329640-74329790	GM12875	blood:	n/a	n/a
42	CTCF	chr12:74329640-74329790	HepG2	liver:	n/a	n/a
43	CTCF	chr12:74329767-74329804	MCF-7	breast:	n/a	n/a
44	CTCF	chr12:74329615-74329790	Medullo	brain:	n/a	n/a
45	CTCF	chr12:74329681-74329877	A549	lung:	n/a	n/a
46	CTCF	chr12:74329597-74329832	A549	lung:	n/a	n/a
47	CTCF	chr12:74329666-74329757	HUVEC	blood vessel:	n/a	n/a
48	CTCF	chr12:74285580-74285730	HCPEpiC	choroid plexus:	n/a	n/a
49	CTCF	chr12:74329660-74329810	WERI-Rb-1	eye:	n/a	n/a
50	CTCF	chr12:74338450-74338452	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:73777376..73778236-chr12:74310356..74311136,2	MCF-7	breast:
2	chr12:74338246..74340293-chr17:57922225..57924227,2	MCF-7	breast:
3	chr12:74287229..74290045-chr12:74297410..74300071,2	K562	blood:
4	chr12:74329268..74329785-chr12:74806142..74806934,2	K562	blood:
5	chr12:74294795..74296655-chr12:74314771..74316525,2	K562	blood:
6	chr12:74300999..74303492-chr12:74306818..74309570,2	K562	blood:
7	chr12:74300999..74303492-chr12:74306818..74309570,2	K562	blood:
8	chr12:74294795..74296655-chr12:74314771..74316525,2	K562	blood:
9	chr12:74326236..74328077-chr12:74328827..74331756,2	K562	blood:
10	chr12:74287229..74290045-chr12:74297410..74300071,2	K562	blood:
11	chr12:74326236..74328077-chr12:74328827..74331756,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATXN7L3B-2	chr12:74312978-74313300	XLOC_009804
2	lnc-KCNC2-4	chr12:74335897-74335956	ENSG00000258109
3	lnc-ATXN7L3B-2	chr12:74300720-74300854	ENSG00000257587
4	lnc-ATXN7L3B-2	chr12:74310012-74310064	XLOC_009804
5	lnc-ATXN7L3B-2	chr12:74312978-74313117	ENSG00000257587
6	lnc-ATXN7L3B-2	chr12:74307737-74307803	ENSG00000257587

Variant related genes	Relation type
ENSG00000257587	TF binding region
ENSG00000272231	TF binding region
PLXNB2	miRNA target sites

Extended variants
information (count: 1106 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:1106 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551816818	chr12:74246676-74246677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs571643289	chr12:74246716-74246717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs137926422	chr12:74246723-74246724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs368488728	chr12:74246759-74246760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569723993	chr12:74246765-74246766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567740050	chr12:74246907-74246908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs28634356	chr12:74246999-74247000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147194097	chr12:74247000-74247001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112238640	chr12:74247006-74247007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553484311	chr12:74247015-74247016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567061286	chr12:74247043-74247044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538911015	chr12:74247057-74247058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557350801	chr12:74247081-74247082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559247933	chr12:74247135-74247136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542997244	chr12:74247139-74247140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556676361	chr12:74247147-74247148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566227494	chr12:74247178-74247179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573637138	chr12:74247184-74247185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542468432	chr12:74247200-74247201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559467493	chr12:74247249-74247250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528400862	chr12:74247266-74247267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545350127	chr12:74247308-74247309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535250437	chr12:74247320-74247321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565161931	chr12:74247337-74247338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554886402	chr12:74247476-74247477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141530102	chr12:74247482-74247483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550992676	chr12:74247483-74247484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150870338	chr12:74247489-74247490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530167403	chr12:74247493-74247494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546894009	chr12:74247525-74247526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192074600	chr12:74247561-74247562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138328918	chr12:74247574-74247575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552482966	chr12:74247591-74247592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs115467545	chr12:74247663-74247664	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs73349930	chr12:74247668-74247669	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs532749653	chr12:74247830-74247831	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs556877189	chr12:74247836-74247837	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs573671207	chr12:74247843-74247844	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs536320453	chr12:74247856-74247857	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs552774095	chr12:74247890-74247891	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs573108969	chr12:74247934-74247935	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs543554377	chr12:74247935-74247936	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs147325429	chr12:74247939-74247940	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs565227226	chr12:74247940-74247941	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs557050879	chr12:74247943-74247944	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs373805023	chr12:74247946-74247947	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs544626077	chr12:74247961-74247962	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs561300923	chr12:74248050-74248051	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs530158196	chr12:74248051-74248052	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs184687987	chr12:74248131-74248132	ZNF genes & repeats	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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:74246600-74246800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:74246800-74247600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:74247600-74248200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:74248400-74251800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:74257000-74258000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:74257000-74258000	Enhancers	NHEK	skin
7	chr12:74257200-74257600	Enhancers	HSMM	muscle
8	chr12:74257200-74258000	Enhancers	Muscle Satellite Cultured Cells	--
9	chr12:74257200-74258000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:74257200-74258000	Enhancers	HMEC	breast
11	chr12:74257200-74258200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:74257200-74258200	Enhancers	HUVEC	blood vessel
13	chr12:74257200-74258200	Enhancers	NH-A	brain
14	chr12:74257400-74257800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:74257400-74258000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:74258000-74260800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr12:74258200-74260800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr12:74260800-74261200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr12:74260800-74261400	Enhancers	Muscle Satellite Cultured Cells	--
20	chr12:74265000-74265600	Enhancers	Brain Substantia Nigra	brain
21	chr12:74265800-74266400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr12:74285000-74285800	Enhancers	Fetal Intestine Small	intestine
23	chr12:74285600-74286000	Enhancers	A549	lung
24	chr12:74286000-74296400	Weak transcription	A549	lung
25	chr12:74286200-74286600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:74296400-74297000	Enhancers	A549	lung
27	chr12:74314800-74315200	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr12:74326000-74326400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:74332400-74332600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr12:74339000-74339800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr12:74339400-74339800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr12:74339800-74343600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr12:74343400-74343600	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr12:74343400-74345000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr12:74343400-74345200	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr12:74343600-74344600	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr12:74343600-74344800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr12:74343600-74344800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr12:74343600-74345200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr12:74343600-74346000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr12:74344000-74344600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr12:74344000-74344800	Enhancers	Brain Hippocampus Middle	brain
43	chr12:74344200-74344800	Enhancers	Brain Cingulate Gyrus	brain
44	chr12:74344200-74344800	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr12:74344400-74344800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr12:74344600-74345000	Enhancers	Brain Anterior Caudate	brain
47	chr12:74344800-74345000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:74345000-74345800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:74345000-74346000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr12:74345200-74346000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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