Variant report

Variant	nsv898877
Chromosome Location	chr12:21056715-21171896
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	BATF	chr12:21090344-21090547	GM12878	blood:	n/a	n/a
2	BHLHE40	chr12:21138511-21138625	GM12878	blood:	n/a	n/a
3	BRCA1	chr12:21103222-21103500	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr12:21071557-21071721	A549	lung:	n/a	n/a
5	CEBPB	chr12:21133477-21133530	HepG2	liver:	n/a	n/a
6	CEBPB	chr12:21168858-21169067	H1-hESC	embryonic stem cell:	n/a	chr12:21168919-21168930
7	CEBPB	chr12:21114301-21114316	A549	lung:	n/a	n/a
8	CEBPB	chr12:21168771-21169100	A549	lung:	n/a	chr12:21168919-21168930
9	CEBPB	chr12:21127431-21127656	HepG2	liver:	n/a	chr12:21127518-21127529
10	CEBPB	chr12:21168774-21169104	HepG2	liver:	n/a	chr12:21168919-21168930
11	CEBPB	chr12:21065012-21065124	HepG2	liver:	n/a	chr12:21065034-21065045
12	CTCF	chr12:21104500-21104650	Caco-2	colon:	n/a	n/a
13	CTCF	chr12:21099752-21099947	SK-N-SH_RA	brain:	n/a	chr12:21099862-21099883 chr12:21099861-21099877 chr12:21099860-21099878 chr12:21099863-21099872
14	CTCF	chr12:21103285-21103434	GM13976	blood:	n/a	n/a
15	CTCF	chr12:21099680-21099830	A549	lung:	n/a	n/a
16	CTCF	chr12:21103296-21103397	GM19239	blood:	n/a	n/a
17	CTCF	chr12:21099760-21099910	HBMEC	blood vessel:	n/a	chr12:21099862-21099883 chr12:21099861-21099877 chr12:21099860-21099878 chr12:21099863-21099872
18	CTCF	chr12:21099820-21099970	GM12875	blood:	n/a	chr12:21099862-21099883 chr12:21099861-21099877 chr12:21099860-21099878 chr12:21099863-21099872
19	CTCF	chr12:21103300-21103450	HFF	foreskin:	n/a	n/a
20	CTCF	chr12:21103200-21103350	AG09309	skin:	n/a	n/a
21	CTCF	chr12:21103300-21103450	GM06990	blood:	n/a	n/a
22	CTCF	chr12:21103261-21103469	GM10266	blood:	n/a	n/a
23	CTCF	chr12:21103300-21103450	BJ	skin:	n/a	n/a
24	CTCF	chr12:21103300-21103450	GM12868	blood:	n/a	n/a
25	CTCF	chr12:21103265-21103494	GM12878	blood:	n/a	n/a
26	CTCF	chr12:21099820-21099970	HMF	breast:	n/a	chr12:21099862-21099883 chr12:21099861-21099877 chr12:21099860-21099878 chr12:21099863-21099872
27	CTCF	chr12:21099437-21100210	SK-N-SH	brain:	n/a	chr12:21099862-21099883 chr12:21099861-21099877 chr12:21099860-21099878 chr12:21099863-21099872
28	CTCF	chr12:21099540-21099690	GM12866	blood:	n/a	n/a
29	CTCF	chr12:21154778-21155098	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr12:21103292-21103400	A549	lung:	n/a	n/a
31	CTCF	chr12:21099783-21099889	GM12891	blood:	n/a	chr12:21099862-21099883 chr12:21099861-21099877 chr12:21099860-21099878 chr12:21099863-21099872
32	CTCF	chr12:21099638-21100081	MCF-7	breast:	n/a	chr12:21099862-21099883 chr12:21099861-21099877 chr12:21099860-21099878 chr12:21099863-21099872
33	CTCF	chr12:21103300-21103450	AoAF	blood vessel:	n/a	n/a
34	CTCF	chr12:21102580-21102730	HCPEpiC	choroid plexus:	n/a	n/a
35	CTCF	chr12:21099769-21099924	GM19240	blood:	n/a	chr12:21099862-21099883 chr12:21099861-21099877 chr12:21099860-21099878 chr12:21099863-21099872
36	CTCF	chr12:21103260-21103410	HRPEpiC	eye:	n/a	n/a
37	CTCF	chr12:21103000-21103780	SK-N-SH	brain:	n/a	n/a
38	CTCF	chr12:21099543-21099629	GM10266	blood:	n/a	n/a
39	CTCF	chr12:21103300-21103450	GM12865	blood:	n/a	n/a
40	CTCF	chr12:21103305-21103349	NHEK	skin:	n/a	n/a
41	CTCF	chr12:21099787-21099892	MCF-7	breast:	n/a	chr12:21099862-21099883 chr12:21099861-21099877 chr12:21099860-21099878 chr12:21099863-21099872
42	CTCF	chr12:21099480-21099630	GM06990	blood:	n/a	n/a
43	CTCF	chr12:21099660-21099810	HRE	kidney:	n/a	n/a
44	CTCF	chr12:21099794-21099881	H1-hESC	embryonic stem cell:	n/a	chr12:21099861-21099877 chr12:21099860-21099878 chr12:21099863-21099872
45	CTCF	chr12:21103277-21103442	ProgFib	skin:	n/a	n/a
46	CTCF	chr12:21099786-21099945	GM13976	blood:	n/a	chr12:21099862-21099883 chr12:21099861-21099877 chr12:21099860-21099878 chr12:21099863-21099872
47	CTCF	chr12:21099780-21099930	NB4	blood:	n/a	chr12:21099862-21099883 chr12:21099861-21099877 chr12:21099860-21099878 chr12:21099863-21099872
48	CTCF	chr12:21103300-21103450	GM12871	blood:	n/a	n/a
49	CTCF	chr12:21099780-21099930	AG04449	skin:	n/a	chr12:21099862-21099883 chr12:21099861-21099877 chr12:21099860-21099878 chr12:21099863-21099872
50	CTCF	chr12:21103260-21103410	RPTEC	kidney:	n/a	n/a

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLCO1A2-5	chr12:21083248-21084757	NONHSAT027238

Variant related genes	Relation type
SLCO1B7	TF binding region

Extended variants
information (count: 3169 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:3169 , 50 per page) page: 1 2 3 4 5 6 7 ... 64

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12824715	chr12:21056715-21056716	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs10841698	chr12:21056775-21056776	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs192303456	chr12:21056779-21056780	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs554318448	chr12:21056820-21056821	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs541764040	chr12:21056839-21056840	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs12825129	chr12:21056858-21056859	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs540220190	chr12:21056860-21056861	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs560798799	chr12:21056899-21056900	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs577635825	chr12:21056901-21056902	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs546148573	chr12:21056907-21056908	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs535492679	chr12:21056937-21056938	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs144087803	chr12:21056945-21056946	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs146489956	chr12:21056955-21056956	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs141083274	chr12:21056990-21056991	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs561837936	chr12:21057046-21057047	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs185702014	chr12:21057098-21057099	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs547362925	chr12:21057106-21057107	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs369552942	chr12:21057122-21057123	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs60642787	chr12:21057127-21057128	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs2196016	chr12:21057142-21057143	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs112027993	chr12:21057160-21057161	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs71043217	chr12:21057172-21057173	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs150205296	chr12:21057232-21057233	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs528956668	chr12:21057233-21057234	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs138784439	chr12:21057258-21057259	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs554743566	chr12:21057261-21057262	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs7953767	chr12:21057281-21057282	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs141682303	chr12:21057303-21057304	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs369341298	chr12:21057311-21057312	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs190234434	chr12:21057327-21057328	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs372512739	chr12:21057334-21057335	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs556576126	chr12:21057376-21057377	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs182055019	chr12:21057433-21057434	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs184245585	chr12:21057439-21057440	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs76980397	chr12:21057442-21057443	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs188863157	chr12:21057464-21057465	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs7968942	chr12:21057483-21057484	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs147079657	chr12:21057517-21057518	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs533125386	chr12:21057545-21057546	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs7969051	chr12:21057552-21057553	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs569046320	chr12:21057556-21057557	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs181319389	chr12:21057604-21057605	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs74862125	chr12:21057651-21057652	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs185453059	chr12:21057659-21057660	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs191031307	chr12:21057735-21057736	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs75105940	chr12:21057769-21057770	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs370017892	chr12:21057773-21057774	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs539055340	chr12:21057774-21057775	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs571563729	chr12:21057777-21057778	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs556850663	chr12:21057784-21057785	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21056000-21058200	ZNF genes & repeats	Liver	Liver
2	chr12:21056600-21058400	ZNF genes & repeats	A549	lung
3	chr12:21057400-21058200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
4	chr12:21057400-21058200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:21058200-21068400	Weak transcription	Liver	Liver
6	chr12:21058400-21080400	Weak transcription	A549	lung
7	chr12:21059000-21059400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:21068400-21068600	Strong transcription	Liver	Liver
9	chr12:21068600-21069800	Weak transcription	Liver	Liver
10	chr12:21069800-21070000	Genic enhancers	Liver	Liver
11	chr12:21070000-21070200	Enhancers	Liver	Liver
12	chr12:21070200-21070400	Flanking Active TSS	Liver	Liver
13	chr12:21070400-21070600	Enhancers	Liver	Liver
14	chr12:21070600-21080600	Weak transcription	Liver	Liver
15	chr12:21080400-21080800	ZNF genes & repeats	A549	lung
16	chr12:21080600-21081000	ZNF genes & repeats	Liver	Liver
17	chr12:21081000-21103400	Weak transcription	Liver	Liver
18	chr12:21084800-21085200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:21098200-21098600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:21103400-21103600	ZNF genes & repeats	Liver	Liver
21	chr12:21107800-21108600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr12:21114400-21115200	ZNF genes & repeats	Liver	Liver
23	chr12:21115200-21115800	Weak transcription	Liver	Liver
24	chr12:21115800-21116600	Enhancers	Liver	Liver
25	chr12:21116600-21116800	Flanking Active TSS	Liver	Liver
26	chr12:21116800-21117000	Enhancers	Liver	Liver
27	chr12:21117000-21117200	Flanking Active TSS	Liver	Liver
28	chr12:21117200-21118600	Enhancers	Liver	Liver
29	chr12:21118600-21119000	Weak transcription	Liver	Liver
30	chr12:21119000-21123000	Enhancers	Liver	Liver
31	chr12:21125200-21125600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr12:21138000-21139200	Enhancers	Dnd41	blood
33	chr12:21138200-21145200	Weak transcription	Liver	Liver
34	chr12:21142800-21143000	ZNF genes & repeats	Gastric	stomach
35	chr12:21145200-21146400	ZNF genes & repeats	Liver	Liver
36	chr12:21146400-21154400	Weak transcription	Liver	Liver
37	chr12:21154400-21155000	ZNF genes & repeats	Liver	Liver
38	chr12:21154800-21155000	Enhancers	Gastric	stomach
39	chr12:21155000-21156800	Weak transcription	Liver	Liver
40	chr12:21171000-21172800	Weak transcription	Liver	Liver

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