Variant report

Variant	nsv979892
Chromosome Location	chr3:155704834-155708955
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:29 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr3:155705036-155705133	K562	blood:	n/a	n/a
2	CEBPB	chr3:155707376-155707671	K562	blood:	n/a	chr3:155707523-155707534
3	CEBPB	chr3:155707379-155707688	A549	lung:	n/a	chr3:155707523-155707534
4	CEBPB	chr3:155707401-155707706	IMR90	lung:	n/a	chr3:155707523-155707534
5	CEBPB	chr3:155707394-155707657	HepG2	liver:	n/a	chr3:155707523-155707534
6	FOS	chr3:155707345-155707690	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr3:155707311-155707718	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr3:155707368-155707668	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr3:155707417-155707666	MCF10A-Er-Src	breast:	n/a	n/a
10	HEY1	chr3:155706159-155706431	K562	blood:	n/a	n/a
11	HEY1	chr3:155705558-155705812	K562	blood:	n/a	n/a
12	MYC	chr3:155707455-155707666	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr3:155705943-155706461	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr3:155706086-155706366	GM12878	blood:	n/a	n/a
15	POLR2A	chr3:155706102-155706404	GM12878	blood:	n/a	n/a
16	POLR2A	chr3:155704968-155705122	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr3:155706130-155706693	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr3:155705030-155705461	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr3:155704878-155705457	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr3:155705516-155705769	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr3:155706419-155706606	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr3:155705599-155705758	ProgFib	skin:	n/a	n/a
23	RFX5	chr3:155704768-155704880	K562	blood:	n/a	n/a
24	STAT3	chr3:155707357-155707597	MCF10A-Er-Src	breast:	n/a	n/a
25	STAT3	chr3:155707386-155707649	MCF10A-Er-Src	breast:	n/a	n/a
26	STAT3	chr3:155707391-155707675	MCF10A-Er-Src	breast:	n/a	n/a
27	TAF1	chr3:155704942-155705213	H1-hESC	embryonic stem cell:	n/a	n/a
28	ZBTB33	chr3:155706070-155706344	HepG2	liver:	n/a	n/a
29	ZC3H11A	chr3:155705037-155705080	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:155704884-155704934	HRE	kidney:	n/a
2	chr3:155704884-155704934	HNPCEpiC	eye:	n/a
3	chr3:155704884-155704934	HUVEC	blood vessel:	n/a
4	chr3:155704884-155704934	LNCaP	prostate:	n/a
5	chr3:155704884-155704934	AG04449	skin:	fetal
6	chr3:155704884-155704934	HCPEpiC	choroid plexus:	n/a
7	chr3:155704884-155704934	Hepatocyte	liver:	n/a
8	chr3:155704884-155704934	AoSMC	blood vessel:	n/a
9	chr3:155704884-155704934	CMK	blood:	n/a
10	chr3:155704884-155704934	RPTEC	kidney:	n/a
11	chr3:155704884-155704934	Caco-2	colon:	n/a
12	chr3:155704884-155704934	NH-A	brain:	n/a
13	chr3:155704884-155704934	AG04450	lung:	fetal
14	chr3:155704884-155704934	ECC-1	luminal epithelium:	n/a
15	chr3:155704884-155704934	SK-N-SH	brain:	n/a
16	chr3:155704884-155704934	GM19239	blood:	n/a
17	chr3:155704884-155704934	HIPEpiC	eye:	n/a
18	chr3:155704884-155704934	PrEC	prostate:	n/a
19	chr3:155704884-155704934	BJ	skin:	n/a
20	chr3:155704884-155704934	K562	blood:	n/a
21	chr3:155704884-155704934	SK-N-SH_RA	brain:	n/a
22	chr3:155704884-155704934	H1-hESC	embryonic stem cell:	embryo
23	chr3:155704884-155704934	SKMC	muscle:	n/a
24	chr3:155704884-155704934	GM12892	blood:	n/a
25	chr3:155704884-155704934	MCF-7	breast:	n/a
26	chr3:155704884-155704934	GM12891	blood:	n/a
27	chr3:155704884-155704934	T-47D	breast:	n/a
28	chr3:155704884-155704934	HepG2	liver:	n/a
29	chr3:155704884-155704934	HL-60	blood:	n/a
30	chr3:155704884-155704934	U87	brain:	n/a
31	chr3:155704884-155704934	NB4	blood:	n/a
32	chr3:155704884-155704934	NHBE	bronchial:	n/a
33	chr3:155704884-155704934	GM12878	blood:	n/a
34	chr3:155704884-155704934	HAEpiC	amniotic membrane:	n/a
35	chr3:155704884-155704934	HCF	heart:	n/a
36	chr3:155704884-155704934	HEEpiC	esophagus:	n/a
37	chr3:155704884-155704934	AG10803	skin:	n/a
38	chr3:155704884-155704934	SK-N-MC	brain:	n/a
39	chr3:155704884-155704934	NT2-D1	testis:	n/a
40	chr3:155704884-155704934	AG09319	gingival:	n/a
41	chr3:155704884-155704934	HMEC	breast:	n/a
42	chr3:155704884-155704934	HPAEpiC	pulmonary alveolar:	n/a
43	chr3:155704884-155704934	PANC-1	pancreas:	n/a
44	chr3:155704884-155704934	HCT-116	colon:	n/a
45	chr3:155704884-155704934	HRPEpiC	eye:	n/a
46	chr3:155704884-155704934	BE2_C	brain:	n/a
47	chr3:155704884-155704934	HCM	heart:	n/a
48	chr3:155704884-155704934	Jurkat	blood:	n/a
49	chr3:155704884-155704934	NHDF-neo	bronchial:	n/a
50	chr3:155704884-155704934	HRCEpiC	kidney:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:155708861..155710769-chr3:156048938..156050651,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GMPS-2	chr3:155706235-155706626	NONHSAT092850
2	lnc-GMPS-2	chr3:155706030-155706109	NONHSAT092850

No data

Variant related genes	Relation type
SETP14	TF binding region
SETP14	CpG island

Extended variants
information (count: 69 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141893928	chr3:155704840-155704841	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs551701747	chr3:155704905-155704906	Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
3	rs560464722	chr3:155704941-155704942	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs188878011	chr3:155704955-155704956	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs548684814	chr3:155705048-155705049	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs376054088	chr3:155705049-155705050	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs567227199	chr3:155705064-155705065	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs56408934	chr3:155705084-155705085	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs531323969	chr3:155705086-155705087	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs114262398	chr3:155705119-155705120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571510271	chr3:155705142-155705143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538846476	chr3:155705163-155705164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs367828050	chr3:155705183-155705184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs74668358	chr3:155706035-155706036	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs371197461	chr3:155706036-155706037	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs77589768	chr3:155706037-155706038	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs68087513	chr3:155706057-155706058	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs547052605	chr3:155706255-155706256	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs559527138	chr3:155706261-155706262	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs530265594	chr3:155706276-155706277	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs548645570	chr3:155706289-155706290	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs570319323	chr3:155706356-155706357	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs537083087	chr3:155706383-155706384	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs572988606	chr3:155706426-155706427	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs552583491	chr3:155706428-155706429	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs545513701	chr3:155706432-155706433	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs558677008	chr3:155706449-155706450	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs36018046	chr3:155706474-155706475	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs550230998	chr3:155706532-155706533	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs563595643	chr3:155708000-155708001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs528531254	chr3:155708017-155708018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs546953014	chr3:155708018-155708019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs187773101	chr3:155708027-155708028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs191922712	chr3:155708072-155708073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs368688666	chr3:155708100-155708101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs529064437	chr3:155708101-155708102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs550759026	chr3:155708205-155708206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs569833130	chr3:155708215-155708216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs182939174	chr3:155708249-155708250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs147587790	chr3:155708252-155708253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs570395868	chr3:155708256-155708257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs569026762	chr3:155708266-155708267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs142565957	chr3:155708313-155708314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs537771316	chr3:155708357-155708358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs541917142	chr3:155708380-155708381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs556777828	chr3:155708466-155708467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs575951267	chr3:155708474-155708475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs546405013	chr3:155708475-155708476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs564799792	chr3:155708517-155708518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs73014850	chr3:155708532-155708533	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21364760	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	22521361	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Cancer	17440070	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:155704800-155705200	Enhancers	K562	blood
2	chr3:155708000-155709600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr3:155708200-155709000	Enhancers	Fetal Stomach	stomach
4	chr3:155708200-155709800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:155708200-155709800	Enhancers	NHEK	skin
6	chr3:155708200-155710000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr3:155708200-155710200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr3:155708200-155710200	Enhancers	HMEC	breast
9	chr3:155708400-155709400	Enhancers	Brain Cingulate Gyrus	brain
10	chr3:155708600-155709000	Enhancers	Brain Anterior Caudate	brain
11	chr3:155708600-155709000	Enhancers	Brain Substantia Nigra	brain
12	chr3:155708600-155709000	Enhancers	Rectal Smooth Muscle	rectum
13	chr3:155708600-155709200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr3:155708600-155709400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr3:155708600-155709400	Enhancers	Fetal Lung	lung
16	chr3:155708600-155709400	Enhancers	Fetal Muscle Leg	muscle
17	chr3:155708600-155709600	Enhancers	Colon Smooth Muscle	Colon
18	chr3:155708800-155709200	Enhancers	Brain Hippocampus Middle	brain

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