Variant report

Variant	nsv591196
Chromosome Location	chr3:103097277-103260978
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	BHLHE40	chr3:103230775-103230926	GM12878	blood:	n/a	n/a
3	CEBPB	chr3:103172053-103172363	A549	lung:	n/a	chr3:103172175-103172188 chr3:103172175-103172186 chr3:103172175-103172188 chr3:103172172-103172189
4	CEBPB	chr3:103107058-103107367	A549	lung:	n/a	n/a
5	CEBPB	chr3:103207011-103207107	H1-hESC	embryonic stem cell:	n/a	chr3:103207047-103207058
6	CEBPB	chr3:103172016-103172301	K562	blood:	n/a	chr3:103172175-103172188 chr3:103172175-103172186 chr3:103172175-103172188 chr3:103172172-103172189
7	CEBPB	chr3:103172073-103172333	H1-hESC	embryonic stem cell:	n/a	chr3:103172175-103172188 chr3:103172175-103172186 chr3:103172175-103172188 chr3:103172172-103172189
8	CEBPB	chr3:103161395-103161610	HepG2	liver:	n/a	n/a
9	CEBPB	chr3:103172003-103172364	IMR90	lung:	n/a	chr3:103172175-103172188 chr3:103172175-103172186 chr3:103172175-103172188 chr3:103172172-103172189
10	CEBPB	chr3:103172604-103172835	HepG2	liver:	n/a	chr3:103172744-103172755
11	CEBPB	chr3:103206909-103207111	A549	lung:	n/a	chr3:103207047-103207058
12	CEBPB	chr3:103161325-103161588	IMR90	lung:	n/a	n/a
13	CEBPB	chr3:103124933-103125262	HepG2	liver:	n/a	chr3:103125094-103125111 chr3:103125097-103125110 chr3:103125097-103125108 chr3:103125097-103125110
14	CEBPB	chr3:103107110-103107310	H1-hESC	embryonic stem cell:	n/a	n/a
15	CEBPB	chr3:103206862-103207216	HepG2	liver:	n/a	chr3:103207047-103207058
16	CEBPB	chr3:103251889-103252272	ECC-1	luminal epithelium:	n/a	n/a
17	CEBPB	chr3:103206891-103207173	IMR90	lung:	n/a	chr3:103207047-103207058
18	CEBPB	chr3:103156780-103157075	HepG2	liver:	n/a	n/a
19	CEBPB	chr3:103172029-103172319	HepG2	liver:	n/a	chr3:103172175-103172188 chr3:103172175-103172186 chr3:103172175-103172188 chr3:103172172-103172189
20	CEBPB	chr3:103172643-103172885	H1-hESC	embryonic stem cell:	n/a	chr3:103172744-103172755
21	CEBPB	chr3:103251900-103252292	ECC-1	luminal epithelium:	n/a	n/a
22	CEBPB	chr3:103232642-103232884	HepG2	liver:	n/a	chr3:103232716-103232727
23	CEBPB	chr3:103124963-103125369	Hela-S3	cervix:	n/a	chr3:103125094-103125111 chr3:103125097-103125110 chr3:103125097-103125108 chr3:103125351-103125360 chr3:103125097-103125110
24	CEBPB	chr3:103250488-103250705	Hela-S3	cervix:	n/a	n/a
25	CEBPZ	chr3:103156815-103156969	HepG2	liver:	n/a	n/a
26	CTCF	chr3:103159480-103159630	GM12870	blood:	n/a	chr3:103159551-103159560
27	CTCF	chr3:103214900-103215050	BE2_C	brain:	n/a	chr3:103214998-103215006
28	CTCF	chr3:103214866-103215131	GM12878	blood:	n/a	chr3:103214998-103215006
29	CTCF	chr3:103159480-103159630	HCT-116	colon:	n/a	chr3:103159551-103159560
30	CTCF	chr3:103159480-103159630	HBMEC	blood vessel:	n/a	chr3:103159551-103159560
31	CTCF	chr3:103159480-103159630	Hela-S3	cervix:	n/a	chr3:103159551-103159560
32	CTCF	chr3:103129220-103129370	GM12878	blood:	n/a	n/a
33	CTCF	chr3:103159482-103159633	GM13977	blood:	n/a	chr3:103159551-103159560
34	CTCF	chr3:103159480-103159630	HEEpiC	esophagus:	n/a	chr3:103159551-103159560
35	CTCF	chr3:103155535-103155600	GM20000	blood:	n/a	n/a
36	CTCF	chr3:103129220-103129370	MCF-7	breast:	n/a	n/a
37	CTCF	chr3:103159500-103159650	NB4	blood:	n/a	chr3:103159551-103159560
38	CTCF	chr3:103159460-103159610	HRPEpiC	eye:	n/a	chr3:103159551-103159560
39	CTCF	chr3:103247810-103247869	Fibrobl	skin:	n/a	n/a
40	CTCF	chr3:103129160-103129310	HCT-116	colon:	n/a	n/a
41	CTCF	chr3:103129200-103129350	GM12864	blood:	n/a	n/a
42	CTCF	chr3:103159488-103159627	HUVEC	blood vessel:	n/a	chr3:103159551-103159560
43	CTCF	chr3:103129160-103129310	Hela-S3	cervix:	n/a	n/a
44	CTCF	chr3:103159500-103159650	GM12873	blood:	n/a	chr3:103159551-103159560
45	CTCF	chr3:103129200-103129350	GM12867	blood:	n/a	n/a
46	CTCF	chr3:103129200-103129350	NB4	blood:	n/a	n/a
47	CTCF	chr3:103159484-103159593	Spleen_OC	spleen:	n/a	chr3:103159551-103159560
48	CTCF	chr3:103129236-103129359	Hela-S3	cervix:	n/a	n/a
49	CTCF	chr3:103214943-103215050	LNCaP	prostate:	n/a	chr3:103214998-103215006
50	CTCF	chr3:103159520-103159670	HEK293	kidney:	n/a	chr3:103159551-103159560

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

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

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

Extended variants
information (count: 899 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:899 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566719243	chr3:103104811-103104812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs534069735	chr3:103104839-103104840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553448586	chr3:103104879-103104880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568439884	chr3:103104930-103104931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535986769	chr3:103104960-103104961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs10804921	chr3:103104977-103104978	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs144581469	chr3:103105010-103105011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs75857438	chr3:103105011-103105012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs546334559	chr3:103105046-103105047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs193092839	chr3:103105076-103105077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573243113	chr3:103105091-103105092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540521986	chr3:103105097-103105098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs74680010	chr3:103105155-103105156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528844047	chr3:103105159-103105160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543993289	chr3:103105186-103105187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562555722	chr3:103105187-103105188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532991315	chr3:103105208-103105209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146698394	chr3:103105283-103105284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs72966293	chr3:103105295-103105296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs75521331	chr3:103105296-103105297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs549281136	chr3:103105322-103105323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs59115464	chr3:103105342-103105343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs10804922	chr3:103105406-103105407	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs148838826	chr3:103105449-103105450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs185288252	chr3:103105477-103105478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569296476	chr3:103105505-103105506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs112383031	chr3:103106451-103106452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs116492868	chr3:103106479-103106480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs551483740	chr3:103106493-103106494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs566585299	chr3:103106514-103106515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs534017595	chr3:103106527-103106528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs74990109	chr3:103106538-103106539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs143016640	chr3:103106539-103106540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs538562138	chr3:103106542-103106543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs537185701	chr3:103106550-103106551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556543190	chr3:103106559-103106560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs577586279	chr3:103106563-103106564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs558683628	chr3:103106592-103106593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs538589872	chr3:103106605-103106606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs372527132	chr3:103106616-103106617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs79483822	chr3:103106632-103106633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs111876934	chr3:103106652-103106653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs576964407	chr3:103106715-103106716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs369560037	chr3:103106741-103106742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs147446477	chr3:103106811-103106812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs139308035	chr3:103106835-103106836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs534438451	chr3:103106929-103106930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs543717614	chr3:103106936-103106937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs554511682	chr3:103106996-103106997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs552896060	chr3:103107041-103107042	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:103104800-103105400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr3:103105000-103105600	Enhancers	Fetal Brain Male	brain
3	chr3:103106400-103107400	Enhancers	Colon Smooth Muscle	Colon
4	chr3:103106800-103107600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr3:103106800-103107800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr3:103107000-103107400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr3:103107000-103107600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr3:103107000-103107600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr3:103107200-103107400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr3:103107400-103107600	Enhancers	Fetal Brain Male	brain
11	chr3:103107800-103112200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr3:103112200-103113200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr3:103112600-103113200	Enhancers	NH-A	brain
14	chr3:103121200-103122400	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr3:103121800-103122600	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr3:103128800-103129200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
17	chr3:103165000-103165800	Enhancers	Stomach Mucosa	stomach
18	chr3:103165600-103166000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr3:103166400-103166600	Enhancers	Fetal Kidney	kidney
20	chr3:103166800-103167000	ZNF genes & repeats	Fetal Kidney	kidney
21	chr3:103168800-103169200	Active TSS	Psoas Muscle	Psoas
22	chr3:103181200-103181600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr3:103189400-103189600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr3:103202800-103203200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr3:103216800-103218400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr3:103217400-103219400	Enhancers	NH-A	brain
27	chr3:103217800-103218200	Enhancers	Muscle Satellite Cultured Cells	--
28	chr3:103218000-103218800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr3:103218200-103218600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr3:103218400-103218800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr3:103218400-103219000	Enhancers	HSMM	muscle
32	chr3:103218600-103219200	Enhancers	Muscle Satellite Cultured Cells	--
33	chr3:103218800-103219400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr3:103219400-103221200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr3:103221200-103221800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr3:103230600-103231000	Enhancers	Fetal Intestine Small	intestine
37	chr3:103230800-103231800	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr3:103231000-103231400	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr3:103231000-103231600	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr3:103231000-103231800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr3:103231000-103231800	Enhancers	Fetal Intestine Large	intestine
42	chr3:103231200-103231800	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr3:103248200-103248600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr3:103249000-103249200	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr3:103249200-103249400	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
46	chr3:103250200-103250600	Active TSS	Placenta	Placenta

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