Variant report

Variant	nsv832438
Chromosome Location	chr12:63571652-63745827
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	ARID3A	chr12:63687901-63688475	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:63670554-63670812	HepG2	liver:	n/a	n/a
3	BCL11A	chr12:63696177-63696349	GM12878	blood:	n/a	n/a
4	BHLHE40	chr12:63700346-63700760	GM12878	blood:	n/a	n/a
5	BHLHE40	chr12:63698603-63699162	GM12878	blood:	n/a	n/a
6	BHLHE40	chr12:63696066-63696525	GM12878	blood:	n/a	n/a
7	BRCA1	chr12:63600642-63601071	Hela-S3	cervix:	n/a	n/a
8	CBX3	chr12:63687968-63688473	HCT-116	colon:	n/a	n/a
9	CEBPB	chr12:63613516-63613778	IMR90	lung:	n/a	n/a
10	CEBPB	chr12:63600679-63601182	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr12:63647886-63648072	A549	lung:	n/a	n/a
12	CEBPB	chr12:63616996-63617194	A549	lung:	n/a	chr12:63617048-63617059 chr12:63617110-63617121 chr12:63617048-63617061
13	CEBPB	chr12:63717272-63717478	A549	lung:	n/a	n/a
14	CEBPB	chr12:63577407-63577618	A549	lung:	n/a	chr12:63577475-63577486
15	CEBPB	chr12:63572869-63573101	IMR90	lung:	n/a	n/a
16	CEBPB	chr12:63607177-63607379	A549	lung:	n/a	n/a
17	CEBPB	chr12:63577350-63577566	HepG2	liver:	n/a	chr12:63577475-63577486
18	CEBPB	chr12:63572887-63573147	A549	lung:	n/a	n/a
19	CEBPB	chr12:63572966-63573073	K562	blood:	n/a	n/a
20	CEBPB	chr12:63625166-63625226	HepG2	liver:	n/a	chr12:63625189-63625200
21	CEBPB	chr12:63600554-63601331	MCF-7	breast:	n/a	n/a
22	CEBPB	chr12:63717238-63717470	IMR90	lung:	n/a	n/a
23	CEBPB	chr12:63600261-63601236	MCF-7	breast:	n/a	n/a
24	CEBPB	chr12:63624366-63624484	HepG2	liver:	n/a	chr12:63624438-63624449
25	CEBPB	chr12:63717194-63717420	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr12:63717188-63717473	HepG2	liver:	n/a	n/a
27	CEBPB	chr12:63573010-63573086	H1-hESC	embryonic stem cell:	n/a	n/a
28	CEBPB	chr12:63737276-63737551	K562	blood:	n/a	n/a
29	CEBPB	chr12:63737279-63737586	MCF-7	breast:	n/a	n/a
30	CEBPB	chr12:63600785-63601096	A549	lung:	n/a	n/a
31	CEBPB	chr12:63616923-63617223	HepG2	liver:	n/a	chr12:63617048-63617059 chr12:63617110-63617121 chr12:63617048-63617061
32	CEBPB	chr12:63613489-63613787	HepG2	liver:	n/a	n/a
33	CEBPB	chr12:63616909-63617221	IMR90	lung:	n/a	chr12:63617048-63617059 chr12:63617110-63617121 chr12:63617048-63617061
34	CEBPD	chr12:63671661-63671966	K562	blood:	n/a	n/a
35	CHD1	chr12:63698842-63698844	GM12878	blood:	n/a	n/a
36	CHD2	chr12:63696073-63697224	GM12878	blood:	n/a	n/a
37	CHD2	chr12:63731052-63731174	H1-hESC	embryonic stem cell:	n/a	n/a
38	CHD2	chr12:63600755-63601111	Hela-S3	cervix:	n/a	n/a
39	CTCF	chr12:63705786-63705817	GM20000	blood:	n/a	n/a
40	CTCF	chr12:63702520-63702670	MCF-7	breast:	n/a	n/a
41	CTCF	chr12:63670610-63670788	Spleen_OC	spleen:	n/a	chr12:63670698-63670719 chr12:63670705-63670718 chr12:63670703-63670721
42	CTCF	chr12:63670607-63670851	ProgFib	skin:	n/a	chr12:63670698-63670719 chr12:63670705-63670718 chr12:63670703-63670721
43	CTCF	chr12:63713205-63713651	MCF-7	breast:	n/a	n/a
44	CTCF	chr12:63670620-63670770	HL-60	blood:	n/a	chr12:63670698-63670719 chr12:63670705-63670718 chr12:63670703-63670721
45	CTCF	chr12:63670600-63670750	WERI-Rb-1	eye:	n/a	chr12:63670698-63670719 chr12:63670705-63670718 chr12:63670703-63670721
46	CTCF	chr12:63670492-63670848	HUVEC	blood vessel:	n/a	chr12:63670698-63670719 chr12:63670705-63670718 chr12:63670703-63670721
47	CTCF	chr12:63671040-63671190	HVMF	connective:	n/a	n/a
48	CTCF	chr12:63713340-63713490	GM12869	blood:	n/a	n/a
49	CTCF	chr12:63670680-63670830	GM12878	blood:	n/a	chr12:63670698-63670719 chr12:63670705-63670718 chr12:63670703-63670721
50	CTCF	chr12:63670656-63670799	GM19239	blood:	n/a	chr12:63670698-63670719 chr12:63670705-63670718 chr12:63670703-63670721

No.	Distal block	Cell Line	Cell type
1	chr12:63496969..63497998-chr12:63670271..63671167,8	MCF-7	breast:
2	chr12:63719488..63722157-chr12:63724086..63726677,2	K562	blood:
3	chr12:63743207..63745868-chr12:63754623..63756737,2	K562	blood:
4	chr12:63708417..63710682-chr12:63712108..63713769,2	K562	blood:
5	chr12:63544050..63546794-chr12:63669922..63672775,2	MCF-7	breast:
6	chr12:63599815..63602634-chr12:63602685..63604731,2	MCF-7	breast:
7	chr12:63545428..63546206-chr12:63674883..63675724,2	MCF-7	breast:
8	chr12:63714796..63717603-chr12:63718432..63720998,3	K562	blood:
9	chr12:63599815..63602634-chr12:63602685..63604731,2	MCF-7	breast:
10	chr12:63678879..63681620-chr17:58469964..58471603,2	MCF-7	breast:
11	chr12:63497332..63498958-chr12:63670308..63671121,8	MCF-7	breast:
12	chr12:63632053..63632963-chr5:177630919..177631572,2	Hela-S3	cervix:
13	chr12:63545448..63546470-chr12:63670124..63671316,6	MCF-7	breast:
14	chr12:63545559..63546473-chr12:63669896..63671149,5	MCF-7	breast:
15	chr12:63617360..63618250-chr8:143764719..143765546,2	MCF-7	breast:
16	chr12:63497053..63498247-chr12:63670255..63671252,4	K562	blood:
17	chr12:63708417..63710682-chr12:63712108..63713769,2	K562	blood:
18	chr12:63714796..63717603-chr12:63718432..63720998,3	K562	blood:
19	chr12:63719488..63722157-chr12:63724086..63726677,2	K562	blood:
20	chr12:63712966..63713795-chr12:64159977..64160513,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AVPR1A-1	chr12:63686409-63686716	ENSG00000258117
2	lnc-TMEM5-5	chr12:63580624-63580735	l_664_chr12:63563604-63657550_brain
3	lnc-TMEM5-5	chr12:63654629-63657550	l_664_chr12:63563604-63657550_brain

Variant related genes	Relation type
HNRNPA1P69	TF binding region
ENSG00000197451	chromatin interactions
ENSG00000166148	chromatin interactions

Extended variants
information (count: 2810 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:2810 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374980334	chr12:63580660-63580661	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs555815703	chr12:63580708-63580709	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs575763588	chr12:63580719-63580720	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs192188203	chr12:63586213-63586214	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs148276148	chr12:63586218-63586219	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183576530	chr12:63586219-63586220	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555221484	chr12:63586220-63586221	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535912712	chr12:63586227-63586228	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555852619	chr12:63586242-63586243	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575813323	chr12:63586245-63586246	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs538505728	chr12:63586256-63586257	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs74097673	chr12:63586266-63586267	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs188224776	chr12:63586305-63586306	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs192796313	chr12:63586327-63586328	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560483506	chr12:63586333-63586334	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs371581951	chr12:63586335-63586336	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs543127250	chr12:63586347-63586348	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs373642604	chr12:63586418-63586419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs562998299	chr12:63586431-63586432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs184254571	chr12:63586478-63586479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs188315149	chr12:63586481-63586482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs10877991	chr12:63586496-63586497	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs554622947	chr12:63586554-63586555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs17099021	chr12:63586582-63586583	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs192398024	chr12:63586597-63586598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs17099023	chr12:63586607-63586608	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs140415989	chr12:63586653-63586654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549464939	chr12:63586656-63586657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145561441	chr12:63586685-63586686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs77775217	chr12:63586723-63586724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558422237	chr12:63586727-63586728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10877992	chr12:63586752-63586753	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs534881661	chr12:63586799-63586800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184989238	chr12:63586814-63586815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs189564251	chr12:63586815-63586816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs569823242	chr12:63586876-63586877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs543090692	chr12:63586903-63586904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs562961266	chr12:63586907-63586908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs576417221	chr12:63586974-63586975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs545485317	chr12:63586983-63586984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs565306501	chr12:63587017-63587018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs113492305	chr12:63587059-63587060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs541307081	chr12:63587093-63587094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs561296983	chr12:63587110-63587111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs181782259	chr12:63587131-63587132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs186952834	chr12:63587146-63587147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs141941996	chr12:63587238-63587239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189841638	chr12:63587244-63587245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562982718	chr12:63587266-63587267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552266068	chr12:63587302-63587303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
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
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Metanephric adenoma	20802469	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Ovarian neoplasms	16753589	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:280 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63586200-63586400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:63586200-63586600	Enhancers	Gastric	stomach
3	chr12:63586400-63586800	Enhancers	Liver	Liver
4	chr12:63586600-63587200	Enhancers	Stomach Mucosa	stomach
5	chr12:63586600-63590000	Weak transcription	Gastric	stomach
6	chr12:63587200-63589800	Weak transcription	Stomach Mucosa	stomach
7	chr12:63589800-63590800	Enhancers	Stomach Mucosa	stomach
8	chr12:63590000-63590400	Enhancers	Gastric	stomach
9	chr12:63599200-63600400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:63599400-63601200	Enhancers	Hela-S3	cervix
11	chr12:63599600-63603000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr12:63599800-63600400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:63599800-63601400	Enhancers	Adipose Nuclei	Adipose
14	chr12:63599800-63602600	Enhancers	Liver	Liver
15	chr12:63600000-63601000	Enhancers	Fetal Intestine Large	intestine
16	chr12:63600200-63600800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:63600400-63600800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr12:63600400-63601000	Enhancers	Stomach Mucosa	stomach
19	chr12:63600400-63601200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:63600800-63601000	Enhancers	Pancreas	Pancrea
21	chr12:63600800-63601200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:63600800-63603800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:63601000-63602000	Weak transcription	Fetal Intestine Large	intestine
24	chr12:63601200-63602600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:63602000-63602200	Enhancers	Fetal Intestine Large	intestine
26	chr12:63602000-63602800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr12:63602600-63603600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr12:63603600-63603800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr12:63612800-63613000	Enhancers	Fetal Kidney	kidney
30	chr12:63613400-63614600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr12:63614000-63615200	Enhancers	HMEC	breast
32	chr12:63614200-63620200	Enhancers	Liver	Liver
33	chr12:63614400-63615000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr12:63614600-63614800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:63614600-63615200	Enhancers	Adipose Nuclei	Adipose
36	chr12:63614800-63615000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:63615000-63615200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr12:63615200-63616200	Weak transcription	Adipose Nuclei	Adipose
39	chr12:63615200-63616600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr12:63616400-63616600	Enhancers	Adipose Nuclei	Adipose
41	chr12:63616600-63617000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr12:63617000-63617800	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr12:63617000-63617800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr12:63617000-63618000	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr12:63617000-63618400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr12:63617400-63617800	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr12:63618000-63621400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr12:63620200-63621000	Flanking Active TSS	Liver	Liver
49	chr12:63621000-63621800	Enhancers	Liver	Liver
50	chr12:63621800-63622600	Weak transcription	Liver	Liver

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