Variant report

Variant	nsv1002641
Chromosome Location	chr3:102978116-103272330
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	chr3:103172643-103172885	H1-hESC	embryonic stem cell:	n/a	chr3:103172744-103172755
4	CEBPB	chr3:103059936-103060309	Hela-S3	cervix:	n/a	chr3:103060118-103060127 chr3:103060117-103060128 chr3:103060118-103060127 chr3:103060118-103060127 chr3:103060116-103060129
5	CEBPB	chr3:103206909-103207111	A549	lung:	n/a	chr3:103207047-103207058
6	CEBPB	chr3:103059940-103060281	H1-hESC	embryonic stem cell:	n/a	chr3:103060118-103060127 chr3:103060117-103060128 chr3:103060118-103060127 chr3:103060118-103060127 chr3:103060116-103060129
7	CEBPB	chr3:103207011-103207107	H1-hESC	embryonic stem cell:	n/a	chr3:103207047-103207058
8	CEBPB	chr3:103124933-103125262	HepG2	liver:	n/a	chr3:103125094-103125111 chr3:103125097-103125110 chr3:103125097-103125108 chr3:103125097-103125110
9	CEBPB	chr3:103172073-103172333	H1-hESC	embryonic stem cell:	n/a	chr3:103172175-103172188 chr3:103172175-103172186 chr3:103172175-103172188 chr3:103172172-103172189
10	CEBPB	chr3:103090926-103091246	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr3:103059935-103060352	A549	lung:	n/a	chr3:103060118-103060127 chr3:103060117-103060128 chr3:103060118-103060127 chr3:103060118-103060127 chr3:103060116-103060129
12	CEBPB	chr3:103172604-103172835	HepG2	liver:	n/a	chr3:103172744-103172755
13	CEBPB	chr3:103059941-103060309	A549	lung:	n/a	chr3:103060118-103060127 chr3:103060117-103060128 chr3:103060118-103060127 chr3:103060118-103060127 chr3:103060116-103060129
14	CEBPB	chr3:103161395-103161610	HepG2	liver:	n/a	n/a
15	CEBPB	chr3:103107110-103107310	H1-hESC	embryonic stem cell:	n/a	n/a
16	CEBPB	chr3:103059934-103060312	HepG2	liver:	n/a	chr3:103060118-103060127 chr3:103060117-103060128 chr3:103060118-103060127 chr3:103060118-103060127 chr3:103060116-103060129
17	CEBPB	chr3:102986586-102986694	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr3:103124963-103125369	Hela-S3	cervix:	n/a	chr3:103125094-103125111 chr3:103125097-103125110 chr3:103125097-103125108 chr3:103125351-103125360 chr3:103125097-103125110
19	CEBPB	chr3:103090899-103091229	ECC-1	luminal epithelium:	n/a	n/a
20	CEBPB	chr3:103090927-103091248	IMR90	lung:	n/a	n/a
21	CEBPB	chr3:103156780-103157075	HepG2	liver:	n/a	n/a
22	CEBPB	chr3:103161325-103161588	IMR90	lung:	n/a	n/a
23	CEBPB	chr3:103206891-103207173	IMR90	lung:	n/a	chr3:103207047-103207058
24	CEBPB	chr3:103206862-103207216	HepG2	liver:	n/a	chr3:103207047-103207058
25	CEBPB	chr3:103250488-103250705	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr3:103059980-103060287	MCF-7	breast:	n/a	chr3:103060118-103060127 chr3:103060117-103060128 chr3:103060118-103060127 chr3:103060118-103060127 chr3:103060116-103060129
27	CEBPB	chr3:102986581-102986858	HepG2	liver:	n/a	chr3:102986733-102986744
28	CEBPB	chr3:103072665-103073268	HepG2	liver:	n/a	chr3:103073111-103073122
29	CEBPB	chr3:103251900-103252292	ECC-1	luminal epithelium:	n/a	n/a
30	CEBPB	chr3:103085724-103086180	A549	lung:	n/a	n/a
31	CEBPB	chr3:103172016-103172301	K562	blood:	n/a	chr3:103172175-103172188 chr3:103172175-103172186 chr3:103172175-103172188 chr3:103172172-103172189
32	CEBPB	chr3:102978349-102978422	HepG2	liver:	n/a	chr3:102978371-102978382
33	CEBPB	chr3:103172053-103172363	A549	lung:	n/a	chr3:103172175-103172188 chr3:103172175-103172186 chr3:103172175-103172188 chr3:103172172-103172189
34	CEBPB	chr3:103107058-103107367	A549	lung:	n/a	n/a
35	CEBPB	chr3:103059924-103060341	A549	lung:	n/a	chr3:103060118-103060127 chr3:103060117-103060128 chr3:103060118-103060127 chr3:103060118-103060127 chr3:103060116-103060129
36	CEBPB	chr3:103071547-103071803	HepG2	liver:	n/a	chr3:103071645-103071656 chr3:103071702-103071713 chr3:103071702-103071713
37	CEBPB	chr3:103172029-103172319	HepG2	liver:	n/a	chr3:103172175-103172188 chr3:103172175-103172186 chr3:103172175-103172188 chr3:103172172-103172189
38	CEBPB	chr3:103172003-103172364	IMR90	lung:	n/a	chr3:103172175-103172188 chr3:103172175-103172186 chr3:103172175-103172188 chr3:103172172-103172189
39	CEBPB	chr3:103090894-103091262	ECC-1	luminal epithelium:	n/a	n/a
40	CEBPB	chr3:103059930-103060312	IMR90	lung:	n/a	chr3:103060118-103060127 chr3:103060117-103060128 chr3:103060118-103060127 chr3:103060118-103060127 chr3:103060116-103060129
41	CEBPB	chr3:103232642-103232884	HepG2	liver:	n/a	chr3:103232716-103232727
42	CEBPB	chr3:103059957-103060254	K562	blood:	n/a	chr3:103060118-103060127 chr3:103060117-103060128 chr3:103060118-103060127 chr3:103060118-103060127 chr3:103060116-103060129
43	CEBPB	chr3:103251889-103252272	ECC-1	luminal epithelium:	n/a	n/a
44	CEBPB	chr3:103059933-103060195	ECC-1	luminal epithelium:	n/a	chr3:103060118-103060127 chr3:103060117-103060128 chr3:103060118-103060127 chr3:103060118-103060127 chr3:103060116-103060129
45	CEBPB	chr3:103059913-103060261	ECC-1	luminal epithelium:	n/a	chr3:103060118-103060127 chr3:103060117-103060128 chr3:103060118-103060127 chr3:103060118-103060127 chr3:103060116-103060129
46	CEBPZ	chr3:103156815-103156969	HepG2	liver:	n/a	n/a
47	CTCF	chr3:103015245-103015271	Medullo	brain:	n/a	n/a
48	CTCF	chr3:103014940-103015090	GM12864	blood:	n/a	chr3:103015012-103015033 chr3:103015010-103015028
49	CTCF	chr3:103027800-103027950	WERI-Rb-1	eye:	n/a	n/a
50	CTCF	chr3:103214933-103215046	LNCaP	prostate:	n/a	chr3:103214998-103215006

No.	Distal block	Cell Line	Cell type
1	chr3:103014701..103015436-chr3:103328029..103328722,3	MCF-7	breast:
2	chr3:103005495..103006360-chr7:19768607..19769370,2	MCF-7	breast:
3	chr3:102464455..102465347-chr3:103014445..103015094,2	MCF-7	breast:
4	chr3:103014881..103015501-chr3:103328255..103328854,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZPLD1-8	chr3:103198015-103199460	l_2420_NR_026934
2	lnc-RPL24-6	chr3:103257479-103259331	NONHSAT090942
3	lnc-ZPLD1-8	chr3:103142393-103142559	l_2420_NR_026934
4	lnc-ZPLD1-8	chr3:103196095-103196431	l_2420_NR_026934
5	lnc-ZPLD1-8	chr3:103161896-103161996	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: 1443 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:1443 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374511599	chr3:102990205-102990206	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs567553373	chr3:102990214-102990215	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs367547907	chr3:102990233-102990234	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs1304118	chr3:102990250-102990251	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs184727478	chr3:102990257-102990258	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs189101607	chr3:102990263-102990264	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs538586237	chr3:102990310-102990311	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs553512453	chr3:102990324-102990325	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs34079210	chr3:102990328-102990329	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs542394890	chr3:102990338-102990339	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs554796913	chr3:102990361-102990362	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs1602755	chr3:102990370-102990371	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs543645671	chr3:102990373-102990374	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs146508844	chr3:102990375-102990376	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs576666712	chr3:102990391-102990392	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs571374748	chr3:103010270-103010271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs187604018	chr3:103010291-103010292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547640420	chr3:103010316-103010317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs144411442	chr3:103010354-103010355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs372726988	chr3:103010355-103010356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs9828445	chr3:103010390-103010391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555381062	chr3:103010393-103010394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs142501191	chr3:103010394-103010395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs150941216	chr3:103010430-103010431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556246512	chr3:103010466-103010467	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs578096374	chr3:103010481-103010482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192552435	chr3:103010506-103010507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554425889	chr3:103010513-103010514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183443358	chr3:103010562-103010563	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552934224	chr3:103010566-103010567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs34222740	chr3:103010573-103010574	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542638796	chr3:103010583-103010584	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1389053	chr3:103010584-103010585	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs540093818	chr3:103010640-103010641	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531335411	chr3:103010672-103010673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113331737	chr3:103010736-103010737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs80255934	chr3:103010795-103010796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200522448	chr3:103010803-103010804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564845991	chr3:103010804-103010805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532312155	chr3:103010814-103010815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547309631	chr3:103010849-103010850	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565955391	chr3:103010876-103010877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs142058730	chr3:103010881-103010882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548079314	chr3:103010910-103010911	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567279379	chr3:103010916-103010917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145819829	chr3:103010929-103010930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556590867	chr3:103010991-103010992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147800068	chr3:103011058-103011059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs539208853	chr3:103011066-103011067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs141295938	chr3:103011067-103011068	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	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:102990200-102990400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:103010200-103010400	Enhancers	Fetal Brain Male	brain
3	chr3:103010400-103011000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr3:103010400-103011000	Weak transcription	Fetal Brain Male	brain
5	chr3:103010600-103011400	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr3:103011000-103011800	Enhancers	Fetal Brain Male	brain
7	chr3:103011800-103012400	Weak transcription	Fetal Brain Male	brain
8	chr3:103013600-103013800	Enhancers	Fetal Brain Male	brain
9	chr3:103025000-103025400	Enhancers	Fetal Lung	lung
10	chr3:103027600-103028200	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr3:103027800-103028200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr3:103038200-103039400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr3:103038200-103039400	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr3:103038200-103039600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr3:103038400-103039600	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr3:103038600-103039400	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr3:103038800-103039200	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr3:103039000-103039400	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr3:103045800-103046200	Enhancers	Psoas Muscle	Psoas
20	chr3:103055200-103056000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr3:103056000-103056400	Enhancers	H9 Cell Line	embryonic stem cell
22	chr3:103061200-103061800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr3:103067200-103069600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr3:103088800-103089000	Enhancers	Fetal Brain Female	brain
25	chr3:103088800-103091000	Enhancers	Fetal Brain Male	brain
26	chr3:103089000-103089800	Weak transcription	Fetal Brain Female	brain
27	chr3:103089800-103091400	Enhancers	Fetal Brain Female	brain
28	chr3:103104800-103105400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr3:103105000-103105600	Enhancers	Fetal Brain Male	brain
30	chr3:103106400-103107400	Enhancers	Colon Smooth Muscle	Colon
31	chr3:103106800-103107600	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr3:103106800-103107800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr3:103107000-103107400	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr3:103107000-103107600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr3:103107000-103107600	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr3:103107200-103107400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr3:103107400-103107600	Enhancers	Fetal Brain Male	brain
38	chr3:103107800-103112200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr3:103112200-103113200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr3:103112600-103113200	Enhancers	NH-A	brain
41	chr3:103121200-103122400	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr3:103121800-103122600	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr3:103128800-103129200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
44	chr3:103165000-103165800	Enhancers	Stomach Mucosa	stomach
45	chr3:103165600-103166000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr3:103166400-103166600	Enhancers	Fetal Kidney	kidney
47	chr3:103166800-103167000	ZNF genes & repeats	Fetal Kidney	kidney
48	chr3:103168800-103169200	Active TSS	Psoas Muscle	Psoas
49	chr3:103181200-103181600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr3:103189400-103189600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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