Variant report

Variant	nsv877248
Chromosome Location	chr3:103140700-103345913
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	chr3:103156773-103156995	HepG2	liver:	n/a	n/a
2	ATF2	chr3:103290808-103291325	GM12878	blood:	n/a	n/a
3	ATF2	chr3:103290805-103291256	GM12878	blood:	n/a	n/a
4	BATF	chr3:103290849-103291204	GM12878	blood:	n/a	n/a
5	BCL11A	chr3:103290919-103291146	GM12878	blood:	n/a	n/a
6	BHLHE40	chr3:103230775-103230926	GM12878	blood:	n/a	n/a
7	CEBPB	chr3:103172053-103172363	A549	lung:	n/a	chr3:103172175-103172188 chr3:103172175-103172186 chr3:103172175-103172188 chr3:103172172-103172189
8	CEBPB	chr3:103308333-103308643	HepG2	liver:	n/a	chr3:103308614-103308625
9	CEBPB	chr3:103172643-103172885	H1-hESC	embryonic stem cell:	n/a	chr3:103172744-103172755
10	CEBPB	chr3:103333586-103334020	ECC-1	luminal epithelium:	n/a	n/a
11	CEBPB	chr3:103206909-103207111	A549	lung:	n/a	chr3:103207047-103207058
12	CEBPB	chr3:103250488-103250705	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr3:103207011-103207107	H1-hESC	embryonic stem cell:	n/a	chr3:103207047-103207058
14	CEBPB	chr3:103308326-103308613	A549	lung:	n/a	n/a
15	CEBPB	chr3:103333518-103334035	ECC-1	luminal epithelium:	n/a	n/a
16	CEBPB	chr3:103161325-103161588	IMR90	lung:	n/a	n/a
17	CEBPB	chr3:103206891-103207173	IMR90	lung:	n/a	chr3:103207047-103207058
18	CEBPB	chr3:103308326-103308617	IMR90	lung:	n/a	n/a
19	CEBPB	chr3:103333974-103334184	Hela-S3	cervix:	n/a	chr3:103334066-103334079
20	CEBPB	chr3:103283597-103283720	HepG2	liver:	n/a	chr3:103283614-103283625
21	CEBPB	chr3:103156780-103157075	HepG2	liver:	n/a	n/a
22	CEBPB	chr3:103172003-103172364	IMR90	lung:	n/a	chr3:103172175-103172188 chr3:103172175-103172186 chr3:103172175-103172188 chr3:103172172-103172189
23	CEBPB	chr3:103206862-103207216	HepG2	liver:	n/a	chr3:103207047-103207058
24	CEBPB	chr3:103172016-103172301	K562	blood:	n/a	chr3:103172175-103172188 chr3:103172175-103172186 chr3:103172175-103172188 chr3:103172172-103172189
25	CEBPB	chr3:103161395-103161610	HepG2	liver:	n/a	n/a
26	CEBPB	chr3:103251900-103252292	ECC-1	luminal epithelium:	n/a	n/a
27	CEBPB	chr3:103172029-103172319	HepG2	liver:	n/a	chr3:103172175-103172188 chr3:103172175-103172186 chr3:103172175-103172188 chr3:103172172-103172189
28	CEBPB	chr3:103172604-103172835	HepG2	liver:	n/a	chr3:103172744-103172755
29	CEBPB	chr3:103293018-103293124	H1-hESC	embryonic stem cell:	n/a	chr3:103293074-103293083
30	CEBPB	chr3:103251889-103252272	ECC-1	luminal epithelium:	n/a	n/a
31	CEBPB	chr3:103232642-103232884	HepG2	liver:	n/a	chr3:103232716-103232727
32	CEBPB	chr3:103172073-103172333	H1-hESC	embryonic stem cell:	n/a	chr3:103172175-103172188 chr3:103172175-103172186 chr3:103172175-103172188 chr3:103172172-103172189
33	CEBPZ	chr3:103156815-103156969	HepG2	liver:	n/a	n/a
34	CREB1	chr3:103290847-103291325	GM12878	blood:	n/a	n/a
35	CREB1	chr3:103290886-103291258	GM12878	blood:	n/a	n/a
36	CTCF	chr3:103328420-103328570	AG10803	skin:	n/a	n/a
37	CTCF	chr3:103328420-103328570	HMEC	breast:	n/a	n/a
38	CTCF	chr3:103328353-103328643	GM12878	blood:	n/a	n/a
39	CTCF	chr3:103328460-103328610	MCF-7	breast:	n/a	n/a
40	CTCF	chr3:103159520-103159670	Caco-2	colon:	n/a	chr3:103159551-103159560
41	CTCF	chr3:103159510-103159580	LNCaP	prostate:	n/a	chr3:103159551-103159560
42	CTCF	chr3:103159460-103159610	AG04449	skin:	n/a	chr3:103159551-103159560
43	CTCF	chr3:103159480-103159630	Hela-S3	cervix:	n/a	chr3:103159551-103159560
44	CTCF	chr3:103159480-103159630	HepG2	liver:	n/a	chr3:103159551-103159560
45	CTCF	chr3:103226229-103226284	GM10266	blood:	n/a	n/a
46	CTCF	chr3:103159480-103159630	HFF	foreskin:	n/a	chr3:103159551-103159560
47	CTCF	chr3:103159440-103159590	GM12865	blood:	n/a	chr3:103159551-103159560
48	CTCF	chr3:103328433-103328559	Fibrobl	skin:	n/a	n/a
49	CTCF	chr3:103328421-103328606	LNCaP	prostate:	n/a	n/a
50	CTCF	chr3:103214933-103215111	IMR90	lung:	n/a	chr3:103214998-103215006

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:103014881..103015501-chr3:103328255..103328854,2	MCF-7	breast:
2	chr3:103014701..103015436-chr3:103328029..103328722,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZPLD1-8	chr3:103142393-103142559	l_2420_NR_026934
2	lnc-ZPLD1-8	chr3:103161896-103161996	l_2420_NR_026934
3	lnc-ZPLD1-8	chr3:103198015-103199460	l_2420_NR_026934
4	lnc-ZPLD1-8	chr3:103196095-103196431	l_2420_NR_026934
5	lnc-RPL24-6	chr3:103257479-103259331	NONHSAT090942

miRNA name	Chromosome Location	mirBase accession
hsa-miR-548ab	chr3:103242929-103242950	MIMAT0018928

Variant related genes	Relation type
MIR548AB	TF binding region
TUBBP11	TF binding region
ENSG00000240107	TF binding region

Extended variants
information (count: 1320 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:1320 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184508320	chr3:103142394-103142395	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs11715084	chr3:103142395-103142396	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs148256020	chr3:103142407-103142408	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs531132109	chr3:103142423-103142424	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs556292562	chr3:103142424-103142425	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs140708116	chr3:103142477-103142478	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs552418918	chr3:103142486-103142487	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs368539719	chr3:103142547-103142548	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs577691351	chr3:103142558-103142559	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs145589490	chr3:103161918-103161919	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs148452633	chr3:103161929-103161930	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs75192144	chr3:103165020-103165021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs9874536	chr3:103165026-103165027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs537584226	chr3:103165041-103165042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs561517657	chr3:103165050-103165051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555819527	chr3:103165061-103165062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs143424212	chr3:103165117-103165118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs34315822	chr3:103165166-103165167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs79158311	chr3:103165174-103165175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554045699	chr3:103165179-103165180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs114190300	chr3:103165187-103165188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs75187352	chr3:103165189-103165190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs114954410	chr3:103165190-103165191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs138654842	chr3:103165232-103165233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs544762371	chr3:103165255-103165256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185131294	chr3:103165313-103165314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs191080479	chr3:103165315-103165316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs181823807	chr3:103165341-103165342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs560863296	chr3:103165342-103165343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs527945751	chr3:103165344-103165345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs142772751	chr3:103165345-103165346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs73150912	chr3:103165362-103165363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs59375912	chr3:103165417-103165418	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs530580995	chr3:103165497-103165498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs368248201	chr3:103165503-103165504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs57084212	chr3:103165518-103165519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs6793955	chr3:103165552-103165553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs57163037	chr3:103165578-103165579	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs113149257	chr3:103165582-103165583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs538451509	chr3:103165592-103165593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs190758455	chr3:103165614-103165615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs375703516	chr3:103165648-103165649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs116770501	chr3:103165652-103165653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs536180215	chr3:103165655-103165656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs527367354	chr3:103165717-103165718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs115000000	chr3:103165724-103165725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs150740617	chr3:103165743-103165744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs574123547	chr3:103165765-103165766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs183379260	chr3:103165785-103165786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs562971870	chr3:103165794-103165795	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	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
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Developmental delay	22180640	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:103165000-103165800	Enhancers	Stomach Mucosa	stomach
2	chr3:103165600-103166000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:103166400-103166600	Enhancers	Fetal Kidney	kidney
4	chr3:103166800-103167000	ZNF genes & repeats	Fetal Kidney	kidney
5	chr3:103168800-103169200	Active TSS	Psoas Muscle	Psoas
6	chr3:103181200-103181600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr3:103189400-103189600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr3:103202800-103203200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr3:103216800-103218400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr3:103217400-103219400	Enhancers	NH-A	brain
11	chr3:103217800-103218200	Enhancers	Muscle Satellite Cultured Cells	--
12	chr3:103218000-103218800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr3:103218200-103218600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr3:103218400-103218800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr3:103218400-103219000	Enhancers	HSMM	muscle
16	chr3:103218600-103219200	Enhancers	Muscle Satellite Cultured Cells	--
17	chr3:103218800-103219400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr3:103219400-103221200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr3:103221200-103221800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr3:103230600-103231000	Enhancers	Fetal Intestine Small	intestine
21	chr3:103230800-103231800	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr3:103231000-103231400	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr3:103231000-103231600	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr3:103231000-103231800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr3:103231000-103231800	Enhancers	Fetal Intestine Large	intestine
26	chr3:103231200-103231800	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr3:103248200-103248600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr3:103249000-103249200	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr3:103249200-103249400	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
30	chr3:103250200-103250600	Active TSS	Placenta	Placenta
31	chr3:103272800-103274200	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr3:103273000-103273400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr3:103273200-103273600	Enhancers	Fetal Lung	lung
34	chr3:103273200-103273800	Active TSS	Fetal Kidney	kidney
35	chr3:103273200-103274000	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr3:103273200-103274000	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr3:103273200-103274000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr3:103273200-103274200	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr3:103273200-103274600	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr3:103273400-103274000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr3:103273600-103274000	Active TSS	Fetal Lung	lung
42	chr3:103273800-103274200	Enhancers	Fetal Kidney	kidney
43	chr3:103282800-103285000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr3:103328400-103336200	Weak transcription	Pancreas	Pancrea
45	chr3:103333200-103334000	Enhancers	Fetal Lung	lung
46	chr3:103334800-103335000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr3:103336400-103337800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr3:103337000-103337800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr3:103338000-103338600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr3:103341200-103343600	Enhancers	Primary hematopoietic stem cells	blood

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