Variant report

Variant	nsv975466
Chromosome Location	chr12:29541892-29547802
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:164)
CpG islands
(count:307)
Chromatin interactive
region (count:2)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:164 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:29543491-29543599	K562	blood:	n/a	n/a
2	ATF1	chr12:29543438-29543665	K562	blood:	n/a	n/a
3	CEBPB	chr12:29543336-29543701	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr12:29543434-29543549	HepG2	liver:	n/a	n/a
5	CHD2	chr12:29543417-29543706	Hela-S3	cervix:	n/a	n/a
6	CTCF	chr12:29542276-29542382	GM12891	blood:	n/a	n/a
7	CTCF	chr12:29545340-29545402	Kidney_OC	kidney:	n/a	n/a
8	CTCF	chr12:29544853-29544896	GM20000	blood:	n/a	n/a
9	CTCF	chr12:29542277-29542372	MCF-7	breast:	n/a	n/a
10	CTCF	chr12:29542283-29542372	MCF-7	breast:	n/a	n/a
11	CTCF	chr12:29542270-29542369	Fibrobl	skin:	n/a	n/a
12	CTCF	chr12:29542290-29542360	GM19238	blood:	n/a	n/a
13	CTCF	chr12:29542299-29542335	GM19240	blood:	n/a	n/a
14	E2F4	chr12:29543465-29543666	MCF10A-Er-Src	breast:	n/a	n/a
15	EP300	chr12:29543468-29543733	Hela-S3	cervix:	n/a	n/a
16	EP300	chr12:29543365-29543667	HepG2	liver:	n/a	n/a
17	EP300	chr12:29543510-29543636	K562	blood:	n/a	n/a
18	FOS	chr12:29543384-29543717	MCF10A-Er-Src	breast:	n/a	chr12:29543596-29543607
19	FOS	chr12:29543375-29543727	MCF10A-Er-Src	breast:	n/a	chr12:29543596-29543607
20	FOS	chr12:29543411-29543770	MCF10A-Er-Src	breast:	n/a	chr12:29543596-29543607
21	FOS	chr12:29543432-29543711	MCF10A-Er-Src	breast:	n/a	chr12:29543596-29543607
22	FOS	chr12:29543441-29543717	HUVEC	blood vessel:	n/a	chr12:29543596-29543607
23	FOSL2	chr12:29543297-29543792	HepG2	liver:	n/a	n/a
24	FOSL2	chr12:29543399-29543791	HepG2	liver:	n/a	n/a
25	FOXA1	chr12:29545106-29545638	HepG2	liver:	n/a	n/a
26	FOXA1	chr12:29543373-29543746	HepG2	liver:	n/a	n/a
27	FOXA1	chr12:29543442-29543678	HepG2	liver:	n/a	n/a
28	FOXA1	chr12:29543414-29543686	HepG2	liver:	n/a	n/a
29	FOXA1	chr12:29543284-29544134	HepG2	liver:	n/a	n/a
30	GABPA	chr12:29542172-29542393	HepG2	liver:	n/a	n/a
31	GABPA	chr12:29542176-29542296	HepG2	liver:	n/a	n/a
32	GTF2F1	chr12:29543526-29543641	Hela-S3	cervix:	n/a	n/a
33	HEY1	chr12:29543103-29543277	HepG2	liver:	n/a	n/a
34	HEY1	chr12:29545161-29545911	HepG2	liver:	n/a	n/a
35	HEY1	chr12:29544421-29544662	K562	blood:	n/a	n/a
36	HEY1	chr12:29542157-29542430	K562	blood:	n/a	n/a
37	HEY1	chr12:29542158-29542466	K562	blood:	n/a	n/a
38	HEY1	chr12:29543089-29543377	K562	blood:	n/a	n/a
39	HEY1	chr12:29542175-29542394	HepG2	liver:	n/a	n/a
40	HEY1	chr12:29546337-29546718	HepG2	liver:	n/a	n/a
41	HEY1	chr12:29542131-29542484	HepG2	liver:	n/a	n/a
42	HEY1	chr12:29543030-29544001	HepG2	liver:	n/a	n/a
43	HEY1	chr12:29546856-29547013	HepG2	liver:	n/a	n/a
44	HEY1	chr12:29545263-29545485	HepG2	liver:	n/a	n/a
45	HEY1	chr12:29545235-29545479	K562	blood:	n/a	n/a
46	HEY1	chr12:29545580-29545798	HepG2	liver:	n/a	n/a
47	HEY1	chr12:29544415-29544665	HepG2	liver:	n/a	n/a
48	HEY1	chr12:29542544-29542910	K562	blood:	n/a	n/a
49	JUN	chr12:29543369-29543718	K562	blood:	n/a	n/a
50	JUND	chr12:29545308-29545433	HepG2	liver:	n/a	n/a

(count:307 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:29546022-29546072	HIPEpiC	eye:	n/a
2	chr12:29546022-29546072	HCF	heart:	n/a
3	chr12:29546022-29546072	HIPEpiC	eye:	n/a
4	chr12:29546022-29546072	HCF	heart:	n/a
5	chr12:29543589-29543639	PrEC	prostate:	n/a
6	chr12:29543589-29543639	Hepatocyte	liver:	n/a
7	chr12:29542837-29542887	HNPCEpiC	eye:	n/a
8	chr12:29543589-29543639	HEK293	kidney:	embryo
9	chr12:29546022-29546072	SAEC	small airway:	n/a
10	chr12:29542219-29542269	HepG2	liver:	n/a
11	chr12:29542837-29542887	U87	brain:	n/a
12	chr12:29542837-29542887	HIPEpiC	eye:	n/a
13	chr12:29542837-29542887	NT2-D1	testis:	n/a
14	chr12:29542219-29542269	HAEpiC	amniotic membrane:	n/a
15	chr12:29542837-29542887	HCM	heart:	n/a
16	chr12:29542219-29542269	HIPEpiC	eye:	n/a
17	chr12:29542219-29542269	PFSK-1	brain:	n/a
18	chr12:29543589-29543639	AG10803	skin:	n/a
19	chr12:29546022-29546072	RPTEC	kidney:	n/a
20	chr12:29542219-29542269	GM12892	blood:	n/a
21	chr12:29542837-29542887	PFSK-1	brain:	n/a
22	chr12:29542598-29542648	AG04450	lung:	fetal
23	chr12:29542219-29542269	AG09319	gingival:	n/a
24	chr12:29542598-29542648	NB4	blood:	n/a
25	chr12:29542598-29542648	AG09319	gingival:	n/a
26	chr12:29542219-29542269	AoSMC	blood vessel:	n/a
27	chr12:29546022-29546072	AoSMC	blood vessel:	n/a
28	chr12:29542598-29542648	AG04449	skin:	fetal
29	chr12:29543589-29543639	HMEC	breast:	n/a
30	chr12:29543589-29543639	HNPCEpiC	eye:	n/a
31	chr12:29546022-29546072	HEK293	kidney:	embryo
32	chr12:29542219-29542269	HUVEC	blood vessel:	n/a
33	chr12:29543589-29543639	GM12878	blood:	n/a
34	chr12:29542219-29542269	A549	lung:	n/a
35	chr12:29542219-29542269	K562	blood:	n/a
36	chr12:29542219-29542269	GM12878	blood:	n/a
37	chr12:29543589-29543639	GM12891	blood:	n/a
38	chr12:29542837-29542887	HRCEpiC	kidney:	n/a
39	chr12:29542598-29542648	HNPCEpiC	eye:	n/a
40	chr12:29542598-29542648	PrEC	prostate:	n/a
41	chr12:29543589-29543639	SK-N-MC	brain:	n/a
42	chr12:29542837-29542887	BE2_C	brain:	n/a
43	chr12:29542598-29542648	GM12892	blood:	n/a
44	chr12:29546022-29546072	CMK	blood:	n/a
45	chr12:29542219-29542269	AG09309	skin:	n/a
46	chr12:29546022-29546072	PANC-1	pancreas:	n/a
47	chr12:29546022-29546072	MCF-7	breast:	n/a
48	chr12:29542219-29542269	AG04449	skin:	fetal
49	chr12:29542837-29542887	SK-N-MC	brain:	n/a
50	chr12:29542598-29542648	ECC-1	luminal epithelium:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:29543513..29545340-chr12:29551723..29553492,2	K562	blood:
2	chr12:29547690..29549742-chr12:29553528..29555084,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-677C1.2.1-2	chr12:29542227-29542786	NONHSAT027489
2	lnc-RP11-677C1.2.1-2	chr12:29542227-29542786	NR_073170
3	lnc-RP11-677C1.2.1-2	chr12:29542227-29542786	NR_073172

No data

Variant related genes	Relation type
OVCH1-AS1	TF binding region
OVCH1-AS1	CpG island

Extended variants
information (count: 92 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78351624	chr12:29541926-29541927	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs188144286	chr12:29541964-29541965	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs550283219	chr12:29541974-29541975	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs571386210	chr12:29541987-29541988	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs538721049	chr12:29541994-29541995	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs201415077	chr12:29542090-29542091	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs201497487	chr12:29542091-29542092	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs553765769	chr12:29542116-29542117	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs373528863	chr12:29542192-29542193	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs75231480	chr12:29542226-29542227	Enhancers Active TSS Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs12821559	chr12:29542270-29542271	Enhancers Active TSS Weak transcription	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs373058942	chr12:29542311-29542312	Enhancers Active TSS Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs576620854	chr12:29542331-29542332	Enhancers Active TSS Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs192708464	chr12:29542390-29542391	Enhancers Active TSS Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs549336563	chr12:29542461-29542462	Enhancers Weak transcription Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs116016018	chr12:29542495-29542496	Enhancers Weak transcription Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs376021929	chr12:29542515-29542516	Enhancers Weak transcription Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs565447635	chr12:29542555-29542556	Enhancers Weak transcription Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs577026999	chr12:29542557-29542558	Enhancers Weak transcription Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs541085863	chr12:29542560-29542561	Enhancers Weak transcription Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs559393171	chr12:29542602-29542603	Enhancers Weak transcription Active TSS	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs529652694	chr12:29542604-29542605	Enhancers Weak transcription Active TSS	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs548505178	chr12:29542649-29542650	Enhancers Weak transcription Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs113763834	chr12:29542690-29542691	Enhancers Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
25	rs530762741	chr12:29542727-29542728	Enhancers Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
26	rs552109801	chr12:29542728-29542729	Enhancers Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
27	rs12319953	chr12:29542739-29542740	Enhancers Weak transcription Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs117154046	chr12:29542777-29542778	Enhancers Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
29	rs547442211	chr12:29542785-29542786	Enhancers Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
30	rs565786618	chr12:29542799-29542800	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs200791341	chr12:29542800-29542801	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs565643822	chr12:29542805-29542806	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs536244083	chr12:29542894-29542895	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs113848325	chr12:29542969-29542970	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs576683691	chr12:29543023-29543024	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs537713153	chr12:29543026-29543027	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs536408722	chr12:29543064-29543065	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs559202555	chr12:29543070-29543071	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs554485843	chr12:29543076-29543077	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs577466533	chr12:29543113-29543114	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs541172195	chr12:29543116-29543117	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs559481057	chr12:29543119-29543120	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs574407477	chr12:29543132-29543133	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs544963978	chr12:29543155-29543156	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs541440116	chr12:29543187-29543188	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs563267431	chr12:29543358-29543359	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs182636566	chr12:29543364-29543365	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs552014630	chr12:29543378-29543379	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs187727023	chr12:29543396-29543397	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs528269248	chr12:29543404-29543405	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
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
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	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 myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	17133270	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29535600-29542600	Weak transcription	Hela-S3	cervix
2	chr12:29535600-29543400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr12:29542200-29542800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
4	chr12:29542200-29542800	Active TSS	Cortex derived primary cultured neurospheres	brain
5	chr12:29542200-29543000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
6	chr12:29542200-29543600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr12:29542400-29543000	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr12:29542600-29543400	Active TSS	HUVEC	blood vessel
9	chr12:29542600-29543600	Enhancers	Primary T cells fromperipheralblood	blood
10	chr12:29542600-29544200	Enhancers	Hela-S3	cervix
11	chr12:29542800-29543000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr12:29542800-29543600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr12:29542800-29544000	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr12:29542800-29544400	Enhancers	Primary T cells from cord blood	blood
15	chr12:29542800-29544400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr12:29542800-29544400	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr12:29542800-29544600	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr12:29543000-29543200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
19	chr12:29543000-29543600	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr12:29543000-29543600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr12:29543000-29544200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr12:29543000-29544200	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr12:29543200-29543400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr12:29543400-29543600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
25	chr12:29543400-29543800	Flanking Active TSS	HUVEC	blood vessel
26	chr12:29543400-29544200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr12:29543400-29545000	Enhancers	HepG2	liver
28	chr12:29543600-29544400	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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