Variant report

Variant	nsv1043893
Chromosome Location	chr12:21097174-21180686
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	BHLHE40	chr12:21138511-21138625	GM12878	blood:	n/a	n/a
2	BRCA1	chr12:21103222-21103500	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr12:21175943-21176096	H1-hESC	embryonic stem cell:	n/a	chr12:21176036-21176047 chr12:21176037-21176048 chr12:21176036-21176049 chr12:21176038-21176047
4	CEBPB	chr12:21168771-21169100	A549	lung:	n/a	chr12:21168919-21168930
5	CEBPB	chr12:21175930-21176170	HepG2	liver:	n/a	chr12:21176036-21176047 chr12:21176037-21176048 chr12:21176036-21176049 chr12:21176038-21176047
6	CEBPB	chr12:21133477-21133530	HepG2	liver:	n/a	n/a
7	CEBPB	chr12:21168858-21169067	H1-hESC	embryonic stem cell:	n/a	chr12:21168919-21168930
8	CEBPB	chr12:21168774-21169104	HepG2	liver:	n/a	chr12:21168919-21168930
9	CEBPB	chr12:21127431-21127656	HepG2	liver:	n/a	chr12:21127518-21127529
10	CEBPB	chr12:21114301-21114316	A549	lung:	n/a	n/a
11	CTCF	chr12:21099720-21099870	MCF-7	breast:	n/a	n/a
12	CTCF	chr12:21103320-21103470	AG04449	skin:	n/a	n/a
13	CTCF	chr12:21099673-21100004	HepG2	liver:	n/a	chr12:21099862-21099883 chr12:21099861-21099877 chr12:21099860-21099878 chr12:21099863-21099872
14	CTCF	chr12:21103297-21103425	Kidney_OC	kidney:	n/a	n/a
15	CTCF	chr12:21099660-21099810	HRE	kidney:	n/a	n/a
16	CTCF	chr12:21099820-21099970	WERI-Rb-1	eye:	n/a	chr12:21099862-21099883 chr12:21099861-21099877 chr12:21099860-21099878 chr12:21099863-21099872
17	CTCF	chr12:21100100-21100250	GM06990	blood:	n/a	n/a
18	CTCF	chr12:21099730-21099979	LNCaP	prostate:	n/a	chr12:21099862-21099883 chr12:21099861-21099877 chr12:21099860-21099878 chr12:21099863-21099872
19	CTCF	chr12:21099820-21099970	MCF-7	breast:	n/a	chr12:21099862-21099883 chr12:21099861-21099877 chr12:21099860-21099878 chr12:21099863-21099872
20	CTCF	chr12:21099820-21099970	HMF	breast:	n/a	chr12:21099862-21099883 chr12:21099861-21099877 chr12:21099860-21099878 chr12:21099863-21099872
21	CTCF	chr12:21099840-21099990	HAc	cerebellar:	n/a	chr12:21099862-21099883 chr12:21099861-21099877 chr12:21099860-21099878 chr12:21099863-21099872
22	CTCF	chr12:21099760-21099910	GM12874	blood:	n/a	chr12:21099862-21099883 chr12:21099861-21099877 chr12:21099860-21099878 chr12:21099863-21099872
23	CTCF	chr12:21136227-21136322	Kidney_OC	kidney:	n/a	n/a
24	CTCF	chr12:21103201-21103478	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr12:21103300-21103450	HCM	heart:	n/a	n/a
26	CTCF	chr12:21103259-21103456	MCF-7	breast:	n/a	n/a
27	CTCF	chr12:21099780-21099930	GM12867	blood:	n/a	chr12:21099862-21099883 chr12:21099861-21099877 chr12:21099860-21099878 chr12:21099863-21099872
28	CTCF	chr12:21099840-21099990	AG10803	skin:	n/a	chr12:21099862-21099883 chr12:21099861-21099877 chr12:21099860-21099878 chr12:21099863-21099872
29	CTCF	chr12:21103222-21103523	HUVEC	blood vessel:	n/a	n/a
30	CTCF	chr12:21099772-21099983	Medullo	brain:	n/a	chr12:21099862-21099883 chr12:21099861-21099877 chr12:21099860-21099878 chr12:21099863-21099872
31	CTCF	chr12:21099760-21099910	GM12878	blood:	n/a	chr12:21099862-21099883 chr12:21099861-21099877 chr12:21099860-21099878 chr12:21099863-21099872
32	CTCF	chr12:21099800-21099950	RPTEC	kidney:	n/a	chr12:21099862-21099883 chr12:21099861-21099877 chr12:21099860-21099878 chr12:21099863-21099872
33	CTCF	chr12:21099400-21099670	GM12872	blood:	n/a	n/a
34	CTCF	chr12:21099638-21100081	MCF-7	breast:	n/a	chr12:21099862-21099883 chr12:21099861-21099877 chr12:21099860-21099878 chr12:21099863-21099872
35	CTCF	chr12:21099640-21099790	HFF	foreskin:	n/a	n/a
36	CTCF	chr12:21099760-21099910	SAEC	small airway:	n/a	chr12:21099862-21099883 chr12:21099861-21099877 chr12:21099860-21099878 chr12:21099863-21099872
37	CTCF	chr12:21103300-21103450	HRPEpiC	eye:	n/a	n/a
38	CTCF	chr12:21103320-21103470	HMEC	breast:	n/a	n/a
39	CTCF	chr12:21099755-21099926	SK-N-SH_RA	brain:	n/a	chr12:21099862-21099883 chr12:21099861-21099877 chr12:21099860-21099878 chr12:21099863-21099872
40	CTCF	chr12:21103265-21103494	GM12878	blood:	n/a	n/a
41	CTCF	chr12:21099747-21099980	MCF-7	breast:	n/a	chr12:21099862-21099883 chr12:21099861-21099877 chr12:21099860-21099878 chr12:21099863-21099872
42	CTCF	chr12:21103300-21103450	HA-sp	spinal cord:	n/a	n/a
43	CTCF	chr12:21099700-21099850	HVMF	connective:	n/a	n/a
44	CTCF	chr12:21103260-21103410	SAEC	small airway:	n/a	n/a
45	CTCF	chr12:21102900-21103050	GM12873	blood:	n/a	n/a
46	CTCF	chr12:21099557-21100140	HCT-116	colon:	n/a	chr12:21099862-21099883 chr12:21099861-21099877 chr12:21099860-21099878 chr12:21099863-21099872
47	CTCF	chr12:21099752-21099947	SK-N-SH_RA	brain:	n/a	chr12:21099862-21099883 chr12:21099861-21099877 chr12:21099860-21099878 chr12:21099863-21099872
48	CTCF	chr12:21099653-21100027	A549	lung:	n/a	chr12:21099862-21099883 chr12:21099861-21099877 chr12:21099860-21099878 chr12:21099863-21099872
49	CTCF	chr12:21099820-21099970	GM12869	blood:	n/a	chr12:21099862-21099883 chr12:21099861-21099877 chr12:21099860-21099878 chr12:21099863-21099872
50	CTCF	chr12:21103320-21103470	AG10803	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:21102918..21103853-chr12:21322562..21323307,3	MCF-7	breast:
2	chr12:21099378..21100255-chr12:21322524..21323110,2	MCF-7	breast:
3	chr12:21099420..21100309-chr12:21218592..21219170,2	MCF-7	breast:
4	chr12:21154478..21155199-chr12:21322720..21323314,2	MCF-7	breast:
5	chr12:21099355..21100332-chr12:21322634..21323175,3	MCF-7	breast:
6	chr12:21103010..21104123-chr12:21218514..21219449,3	MCF-7	breast:

Variant related genes	Relation type
SLCO1B7	TF binding region

Extended variants
information (count: 1977 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:1977 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563664181	chr12:21097254-21097255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs113769643	chr12:21097286-21097287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531542232	chr12:21097289-21097290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12814270	chr12:21097329-21097330	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs568238592	chr12:21097345-21097346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112771941	chr12:21097352-21097353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373263456	chr12:21097392-21097393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547151399	chr12:21097398-21097399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139598488	chr12:21097400-21097401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs114334789	chr12:21097426-21097427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112883786	chr12:21097441-21097442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs71446743	chr12:21097443-21097444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192780996	chr12:21097454-21097455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs377110789	chr12:21097461-21097462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569610428	chr12:21097505-21097506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184862767	chr12:21097513-21097514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11045609	chr12:21097526-21097527	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs145161458	chr12:21097590-21097591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541646754	chr12:21097606-21097607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532874777	chr12:21097628-21097629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148712915	chr12:21097632-21097633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189179774	chr12:21097633-21097634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372995684	chr12:21097675-21097676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113855793	chr12:21097678-21097679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563562012	chr12:21097801-21097802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529311898	chr12:21097816-21097817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542624110	chr12:21097880-21097881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113208538	chr12:21097913-21097914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552877105	chr12:21097937-21097938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562027695	chr12:21098097-21098098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527548698	chr12:21098105-21098106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547239061	chr12:21098134-21098135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs114878494	chr12:21098150-21098151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532889549	chr12:21098153-21098154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11045610	chr12:21098163-21098164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs71446744	chr12:21098235-21098236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549485300	chr12:21098271-21098272	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569613828	chr12:21098273-21098274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs377420589	chr12:21098281-21098282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555014610	chr12:21098289-21098290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10841714	chr12:21098302-21098303	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs552818172	chr12:21098320-21098321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535325708	chr12:21098343-21098344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571322801	chr12:21098352-21098353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs180707078	chr12:21098357-21098358	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376297105	chr12:21098366-21098367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10841715	chr12:21098367-21098368	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs544004939	chr12:21098374-21098375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116629163	chr12:21098380-21098381	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548489768	chr12:21098426-21098427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21364760	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Melanoma	17363583	CNVD
Schizophrenia	23813976	CNVD
Schizophrenia	21346763	CNVD
Breast cancer	22522925	CNVD
Multiple myeloma	17550852	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21081000-21103400	Weak transcription	Liver	Liver
2	chr12:21098200-21098600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:21103400-21103600	ZNF genes & repeats	Liver	Liver
4	chr12:21107800-21108600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:21114400-21115200	ZNF genes & repeats	Liver	Liver
6	chr12:21115200-21115800	Weak transcription	Liver	Liver
7	chr12:21115800-21116600	Enhancers	Liver	Liver
8	chr12:21116600-21116800	Flanking Active TSS	Liver	Liver
9	chr12:21116800-21117000	Enhancers	Liver	Liver
10	chr12:21117000-21117200	Flanking Active TSS	Liver	Liver
11	chr12:21117200-21118600	Enhancers	Liver	Liver
12	chr12:21118600-21119000	Weak transcription	Liver	Liver
13	chr12:21119000-21123000	Enhancers	Liver	Liver
14	chr12:21125200-21125600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:21138000-21139200	Enhancers	Dnd41	blood
16	chr12:21138200-21145200	Weak transcription	Liver	Liver
17	chr12:21142800-21143000	ZNF genes & repeats	Gastric	stomach
18	chr12:21145200-21146400	ZNF genes & repeats	Liver	Liver
19	chr12:21146400-21154400	Weak transcription	Liver	Liver
20	chr12:21154400-21155000	ZNF genes & repeats	Liver	Liver
21	chr12:21154800-21155000	Enhancers	Gastric	stomach
22	chr12:21155000-21156800	Weak transcription	Liver	Liver
23	chr12:21171000-21172800	Weak transcription	Liver	Liver
24	chr12:21172800-21173600	Strong transcription	Liver	Liver
25	chr12:21173600-21176000	Weak transcription	Liver	Liver
26	chr12:21176000-21178200	Strong transcription	Liver	Liver
27	chr12:21178200-21178400	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr12:21178200-21179800	Weak transcription	Liver	Liver
29	chr12:21179400-21179600	Enhancers	A549	lung
30	chr12:21179800-21180000	Strong transcription	Liver	Liver
31	chr12:21180000-21180200	ZNF genes & repeats	Liver	Liver
32	chr12:21180200-21180600	Weak transcription	Liver	Liver

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