Variant report

Variant	nsv521241
Chromosome Location	chr12:7815751-7826305
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	chr12:7819304-7819445	HepG2	liver:	n/a	n/a
2	CTCF	chr12:7819880-7820030	RPTEC	kidney:	n/a	chr12:7819956-7819977 chr12:7819966-7819974
3	CTCF	chr12:7819880-7820030	HA-sp	spinal cord:	n/a	chr12:7819956-7819977 chr12:7819966-7819974
4	CTCF	chr12:7819840-7819990	HA-sp	spinal cord:	n/a	chr12:7819956-7819977 chr12:7819966-7819974
5	CTCF	chr12:7819931-7820001	Spleen_OC	spleen:	n/a	chr12:7819956-7819977 chr12:7819966-7819974
6	CTCF	chr12:7819820-7819970	NHDF-neo	bronchial:	n/a	n/a
7	CTCF	chr12:7819720-7819870	WI-38	lung:	n/a	n/a
8	CTCF	chr12:7819920-7820070	GM12872	blood:	n/a	chr12:7819956-7819977 chr12:7819966-7819974
9	CTCF	chr12:7819729-7820192	MCF-7	breast:	n/a	chr12:7819956-7819977 chr12:7819966-7819974
10	CTCF	chr12:7819860-7820010	WERI-Rb-1	eye:	n/a	chr12:7819956-7819977 chr12:7819966-7819974
11	CTCF	chr12:7819840-7819990	NHDF-neo	bronchial:	n/a	chr12:7819956-7819977 chr12:7819966-7819974
12	CTCF	chr12:7819820-7819970	HMEC	breast:	n/a	n/a
13	CTCF	chr12:7819900-7820050	HMF	breast:	n/a	chr12:7819956-7819977 chr12:7819966-7819974
14	CTCF	chr12:7819880-7820030	K562	blood:	n/a	chr12:7819956-7819977 chr12:7819966-7819974
15	CTCF	chr12:7819860-7820010	GM12864	blood:	n/a	chr12:7819956-7819977 chr12:7819966-7819974
16	CTCF	chr12:7819880-7820030	Caco-2	colon:	n/a	chr12:7819956-7819977 chr12:7819966-7819974
17	CTCF	chr12:7819800-7819950	GM12872	blood:	n/a	n/a
18	CTCF	chr12:7819940-7820090	AG04450	lung:	n/a	chr12:7819956-7819977 chr12:7819966-7819974
19	CTCF	chr12:7820100-7820250	K562	blood:	n/a	n/a
20	CTCF	chr12:7819855-7820073	MCF-7	breast:	n/a	chr12:7819956-7819977 chr12:7819966-7819974
21	CTCF	chr12:7819860-7820010	GM12869	blood:	n/a	chr12:7819956-7819977 chr12:7819966-7819974
22	CTCF	chr12:7819840-7819990	HFF	foreskin:	n/a	chr12:7819956-7819977 chr12:7819966-7819974
23	CTCF	chr12:7819841-7820023	HepG2	liver:	n/a	chr12:7819956-7819977 chr12:7819966-7819974
24	CTCF	chr12:7819784-7820078	A549	lung:	n/a	chr12:7819956-7819977 chr12:7819966-7819974
25	CTCF	chr12:7819820-7819970	GM12872	blood:	n/a	n/a
26	CTCF	chr12:7819900-7820050	HPF	lung:	n/a	chr12:7819956-7819977 chr12:7819966-7819974
27	CTCF	chr12:7819880-7820030	SK-N-SH_RA	brain:	n/a	chr12:7819956-7819977 chr12:7819966-7819974
28	CTCF	chr12:7819860-7820010	Hela-S3	cervix:	n/a	chr12:7819956-7819977 chr12:7819966-7819974
29	CTCF	chr12:7819840-7819990	HCT-116	colon:	n/a	chr12:7819956-7819977 chr12:7819966-7819974
30	CTCF	chr12:7819980-7820130	WI-38	lung:	n/a	n/a
31	CTCF	chr12:7819840-7819990	BE2_C	brain:	n/a	chr12:7819956-7819977 chr12:7819966-7819974
32	CTCF	chr12:7819881-7820067	Hela-S3	cervix:	n/a	chr12:7819956-7819977 chr12:7819966-7819974
33	CTCF	chr12:7819880-7820030	GM12865	blood:	n/a	chr12:7819956-7819977 chr12:7819966-7819974
34	CTCF	chr12:7819880-7820030	HCM	heart:	n/a	chr12:7819956-7819977 chr12:7819966-7819974
35	CTCF	chr12:7819914-7820018	HepG2	liver:	n/a	chr12:7819956-7819977 chr12:7819966-7819974
36	CTCF	chr12:7819893-7820043	MCF-7	breast:	n/a	chr12:7819956-7819977 chr12:7819966-7819974
37	CTCF	chr12:7819920-7820070	A549	lung:	n/a	chr12:7819956-7819977 chr12:7819966-7819974
38	CTCF	chr12:7819880-7820030	GM12871	blood:	n/a	chr12:7819956-7819977 chr12:7819966-7819974
39	CTCF	chr12:7819920-7820070	AG10803	skin:	n/a	chr12:7819956-7819977 chr12:7819966-7819974
40	CTCF	chr12:7819861-7820090	K562	blood:	n/a	chr12:7819956-7819977 chr12:7819966-7819974
41	CTCF	chr12:7819840-7819990	HCFaa	heart:	n/a	chr12:7819956-7819977 chr12:7819966-7819974
42	CTCF	chr12:7819891-7820060	GM12878	blood:	n/a	chr12:7819956-7819977 chr12:7819966-7819974
43	CTCF	chr12:7819880-7820030	HBMEC	blood vessel:	n/a	chr12:7819956-7819977 chr12:7819966-7819974
44	CTCF	chr12:7819860-7820010	HepG2	liver:	n/a	chr12:7819956-7819977 chr12:7819966-7819974
45	CTCF	chr12:7819900-7820050	NHEK	skin:	n/a	chr12:7819956-7819977 chr12:7819966-7819974
46	CTCF	chr12:7819900-7820050	GM12868	blood:	n/a	chr12:7819956-7819977 chr12:7819966-7819974
47	CTCF	chr12:7819840-7819990	WERI-Rb-1	eye:	n/a	chr12:7819956-7819977 chr12:7819966-7819974
48	CTCF	chr12:7819900-7820050	AG10803	skin:	n/a	chr12:7819956-7819977 chr12:7819966-7819974
49	CTCF	chr12:7820700-7820850	GM06990	blood:	n/a	n/a
50	CTCF	chr12:7819900-7820050	Hela-S3	cervix:	n/a	chr12:7819956-7819977 chr12:7819966-7819974

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:7818654-7818704	HRPEpiC	eye:	n/a
2	chr12:7818654-7818704	HRPEpiC	eye:	n/a
3	chr12:7818654-7818704	HCM	heart:	n/a
4	chr12:7819180-7819230	HCT-116	colon:	n/a
5	chr12:7818635-7818685	HCT-116	colon:	n/a
6	chr12:7817844-7817894	HCM	heart:	n/a
7	chr12:7818635-7818685	H1-hESC	embryonic stem cell:	embryo
8	chr12:7819180-7819230	HCPEpiC	choroid plexus:	n/a
9	chr12:7818635-7818685	K562	blood:	n/a
10	chr12:7818585-7818635	HEEpiC	esophagus:	n/a
11	chr12:7818654-7818704	AG04449	skin:	fetal
12	chr12:7818635-7818685	NHBE	bronchial:	n/a
13	chr12:7818635-7818685	Hela-S3	cervix:	n/a
14	chr12:7818654-7818704	AG09309	skin:	n/a
15	chr12:7818635-7818685	NH-A	brain:	n/a
16	chr12:7819180-7819230	RPTEC	kidney:	n/a
17	chr12:7818654-7818704	ProgFib	skin:	n/a
18	chr12:7818654-7818704	Caco-2	colon:	n/a
19	chr12:7818654-7818704	SK-N-SH	brain:	n/a
20	chr12:7818654-7818704	RPTEC	kidney:	n/a
21	chr12:7818635-7818685	AG10803	skin:	n/a
22	chr12:7817844-7817894	ovcar-3	ovarian:	n/a
23	chr12:7819180-7819230	H1-hESC	embryonic stem cell:	embryo
24	chr12:7817844-7817894	HRCEpiC	kidney:	n/a
25	chr12:7818585-7818635	HRCEpiC	kidney:	n/a
26	chr12:7817844-7817894	PFSK-1	brain:	n/a
27	chr12:7817844-7817894	Hepatocyte	liver:	n/a
28	chr12:7817844-7817894	HepG2	liver:	n/a
29	chr12:7818635-7818685	T-47D	breast:	n/a
30	chr12:7818635-7818685	Caco-2	colon:	n/a
31	chr12:7819180-7819230	HIPEpiC	eye:	n/a
32	chr12:7819180-7819230	SAEC	small airway:	n/a
33	chr12:7818635-7818685	GM19239	blood:	n/a
34	chr12:7819180-7819230	HRCEpiC	kidney:	n/a
35	chr12:7818635-7818685	MCF-7	breast:	n/a
36	chr12:7817844-7817894	NHBE	bronchial:	n/a
37	chr12:7819180-7819230	SK-N-SH_RA	brain:	n/a
38	chr12:7818654-7818704	GM12892	blood:	n/a
39	chr12:7818585-7818635	Hela-S3	cervix:	n/a
40	chr12:7819180-7819230	LNCaP	prostate:	n/a
41	chr12:7817844-7817894	HRE	kidney:	n/a
42	chr12:7818585-7818635	BJ	skin:	n/a
43	chr12:7818585-7818635	PrEC	prostate:	n/a
44	chr12:7818585-7818635	HRE	kidney:	n/a
45	chr12:7819180-7819230	BE2_C	brain:	n/a
46	chr12:7818585-7818635	AoSMC	blood vessel:	n/a
47	chr12:7818635-7818685	ECC-1	luminal epithelium:	n/a
48	chr12:7818635-7818685	GM12892	blood:	n/a
49	chr12:7818635-7818685	AG09319	gingival:	n/a
50	chr12:7818635-7818685	PFSK-1	brain:	n/a

Variant related genes	Relation type
APOBEC1	TF binding region
APOBEC1	CpG island

Extended variants
information (count: 230 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:230 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9651863	chr12:7815751-7815752	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs75983536	chr12:7815823-7815824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566121874	chr12:7815892-7815893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35684921	chr12:7815906-7815907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs367725869	chr12:7815924-7815925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145420794	chr12:7815939-7815940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs60245047	chr12:7815975-7815976	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs79936939	chr12:7815985-7815986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185573662	chr12:7816044-7816045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529890809	chr12:7816073-7816074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558494075	chr12:7816086-7816087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374169606	chr12:7816152-7816153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs58448226	chr12:7816162-7816163	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs11055095	chr12:7816182-7816183	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs372219149	chr12:7816259-7816260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149182936	chr12:7816386-7816387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377265788	chr12:7816437-7816438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372082422	chr12:7816454-7816455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556111132	chr12:7816465-7816466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7295565	chr12:7816466-7816467	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs189647951	chr12:7816486-7816487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182246879	chr12:7816528-7816529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112911871	chr12:7816554-7816555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372096689	chr12:7816639-7816640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187635101	chr12:7816693-7816694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113417881	chr12:7816773-7816774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7316755	chr12:7816867-7816868	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs554197673	chr12:7816992-7816993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs61937013	chr12:7817036-7817037	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs11838031	chr12:7817042-7817043	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs61937014	chr12:7817128-7817129	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs373356798	chr12:7817135-7817136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375465798	chr12:7817143-7817144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34681095	chr12:7817166-7817167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11055101	chr12:7817167-7817168	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs374677989	chr12:7817199-7817200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369826604	chr12:7817216-7817217	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs188619080	chr12:7817265-7817266	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs372803986	chr12:7817267-7817268	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs1860979	chr12:7817374-7817375	Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs1860980	chr12:7817402-7817403	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs371146835	chr12:7817489-7817490	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs202197984	chr12:7817496-7817497	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs537484602	chr12:7817513-7817514	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs397850472	chr12:7817515-7817516	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs558569965	chr12:7817543-7817544	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs372505346	chr12:7817580-7817581	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs142505845	chr12:7817606-7817607	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547967688	chr12:7817685-7817686	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76461839	chr12:7817725-7817726	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	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
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
Epilepsy	21858020	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
craniofacial dysmorphism	21918468	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Alzheimer''s disease	17160897	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Nasopharyngeal cancer	20548289	CNVD
Breast cancer	22522925	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:7809600-7817200	Weak transcription	Fetal Intestine Small	intestine
2	chr12:7815600-7817600	Weak transcription	Duodenum Mucosa	Duodenum
3	chr12:7817200-7817400	Flanking Active TSS	Fetal Intestine Small	intestine
4	chr12:7817400-7817600	Enhancers	Fetal Intestine Large	intestine
5	chr12:7817400-7817600	Enhancers	Stomach Mucosa	stomach
6	chr12:7817400-7818400	Active TSS	Fetal Intestine Small	intestine
7	chr12:7817600-7818200	Active TSS	Fetal Intestine Large	intestine
8	chr12:7817600-7818600	Weak transcription	Stomach Mucosa	stomach
9	chr12:7817600-7818800	Active TSS	Duodenum Mucosa	Duodenum
10	chr12:7818200-7818400	Weak transcription	Fetal Intestine Large	intestine
11	chr12:7818400-7818600	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr12:7818400-7819000	Weak transcription	Fetal Intestine Small	intestine
13	chr12:7818400-7820000	Enhancers	HepG2	liver
14	chr12:7818400-7820400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr12:7818400-7821600	Enhancers	Fetal Intestine Large	intestine
16	chr12:7818600-7818800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:7818600-7819200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr12:7818600-7819400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:7818600-7820000	Enhancers	Stomach Mucosa	stomach
20	chr12:7818800-7819800	Weak transcription	Duodenum Mucosa	Duodenum
21	chr12:7819000-7819200	Enhancers	Fetal Intestine Small	intestine
22	chr12:7819000-7820200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:7819200-7819400	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr12:7819200-7819600	Weak transcription	Fetal Intestine Small	intestine
25	chr12:7819200-7820400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr12:7819600-7821400	Enhancers	Fetal Intestine Small	intestine
27	chr12:7819800-7821400	Enhancers	Duodenum Mucosa	Duodenum
28	chr12:7820200-7820800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr12:7820400-7820800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr12:7824200-7846000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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