Variant report

Variant	nsv460764
Chromosome Location	chr3:94479849-94654181
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	chr3:94647895-94648284	K562	blood:	n/a	n/a
2	ARID3A	chr3:94647886-94648293	HepG2	liver:	n/a	n/a
3	ATF1	chr3:94647851-94648124	K562	blood:	n/a	n/a
4	ATF3	chr3:94647789-94648115	K562	blood:	n/a	n/a
5	BACH1	chr3:94647643-94647727	K562	blood:	n/a	n/a
6	BACH1	chr3:94606022-94606092	H1-hESC	embryonic stem cell:	n/a	n/a
7	BATF	chr3:94612114-94612320	GM12878	blood:	n/a	n/a
8	BRCA1	chr3:94647373-94648293	Hela-S3	cervix:	n/a	n/a
9	CBX3	chr3:94579162-94579443	K562	blood:	n/a	n/a
10	CCNT2	chr3:94647859-94648168	K562	blood:	n/a	n/a
11	CEBPB	chr3:94647151-94648434	Hela-S3	cervix:	n/a	chr3:94648062-94648075 chr3:94648062-94648073 chr3:94648062-94648073
12	CEBPB	chr3:94616020-94616237	A549	lung:	n/a	chr3:94616123-94616134
13	CEBPB	chr3:94647734-94648128	ECC-1	luminal epithelium:	n/a	chr3:94648062-94648075 chr3:94648062-94648073 chr3:94648062-94648073
14	CEBPB	chr3:94553621-94553821	HepG2	liver:	n/a	chr3:94553721-94553732
15	CEBPB	chr3:94587927-94588382	IMR90	lung:	n/a	chr3:94588075-94588086 chr3:94588035-94588047 chr3:94588213-94588222 chr3:94588213-94588222 chr3:94588076-94588085 chr3:94588211-94588224 chr3:94588213-94588222 chr3:94588340-94588352 chr3:94588074-94588085
16	CEBPB	chr3:94595115-94595509	MCF-7	breast:	n/a	chr3:94595246-94595257
17	CEBPB	chr3:94647782-94648336	HepG2	liver:	n/a	chr3:94648062-94648075 chr3:94648062-94648073 chr3:94648062-94648073
18	CEBPB	chr3:94605832-94606377	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr3:94510952-94511286	HepG2	liver:	n/a	chr3:94511112-94511123
20	CEBPB	chr3:94647601-94648373	A549	lung:	n/a	chr3:94648062-94648075 chr3:94648062-94648073 chr3:94648062-94648073
21	CEBPB	chr3:94647708-94648354	MCF-7	breast:	n/a	chr3:94648062-94648075 chr3:94648062-94648073 chr3:94648062-94648073
22	CEBPB	chr3:94647737-94648314	A549	lung:	n/a	chr3:94648062-94648075 chr3:94648062-94648073 chr3:94648062-94648073
23	CEBPB	chr3:94587941-94588268	H1-hESC	embryonic stem cell:	n/a	chr3:94588075-94588086 chr3:94588035-94588047 chr3:94588213-94588222 chr3:94588213-94588222 chr3:94588076-94588085 chr3:94588211-94588224 chr3:94588213-94588222 chr3:94588074-94588085
24	CEBPB	chr3:94647842-94648080	HepG2	liver:	n/a	chr3:94648062-94648075 chr3:94648062-94648073 chr3:94648062-94648073
25	CEBPB	chr3:94510968-94511185	A549	lung:	n/a	chr3:94511112-94511123
26	CEBPB	chr3:94647804-94648170	HepG2	liver:	n/a	chr3:94648062-94648075 chr3:94648062-94648073 chr3:94648062-94648073
27	CEBPB	chr3:94552089-94552147	H1-hESC	embryonic stem cell:	n/a	n/a
28	CEBPB	chr3:94595078-94595453	Hela-S3	cervix:	n/a	chr3:94595246-94595257
29	CEBPB	chr3:94645928-94646350	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr3:94574517-94574639	Hela-S3	cervix:	n/a	n/a
31	CEBPB	chr3:94587956-94588362	MCF-7	breast:	n/a	chr3:94588075-94588086 chr3:94588035-94588047 chr3:94588213-94588222 chr3:94588213-94588222 chr3:94588076-94588085 chr3:94588211-94588224 chr3:94588213-94588222 chr3:94588340-94588352 chr3:94588074-94588085
32	CEBPB	chr3:94615974-94616279	HepG2	liver:	n/a	chr3:94616123-94616134
33	CEBPB	chr3:94595214-94595377	K562	blood:	n/a	chr3:94595246-94595257
34	CEBPB	chr3:94647800-94648145	K562	blood:	n/a	chr3:94648062-94648075 chr3:94648062-94648073 chr3:94648062-94648073
35	CEBPB	chr3:94631576-94631938	Hela-S3	cervix:	n/a	n/a
36	CEBPB	chr3:94647749-94648263	K562	blood:	n/a	chr3:94648062-94648075 chr3:94648062-94648073 chr3:94648062-94648073
37	CEBPB	chr3:94595004-94595611	MCF-7	breast:	n/a	chr3:94595246-94595257
38	CEBPB	chr3:94595113-94595431	HepG2	liver:	n/a	chr3:94595246-94595257
39	CEBPB	chr3:94647641-94648406	MCF-7	breast:	n/a	chr3:94648062-94648075 chr3:94648062-94648073 chr3:94648062-94648073
40	CEBPB	chr3:94647899-94648142	H1-hESC	embryonic stem cell:	n/a	chr3:94648062-94648075 chr3:94648062-94648073 chr3:94648062-94648073
41	CEBPB	chr3:94587965-94588320	A549	lung:	n/a	chr3:94588075-94588086 chr3:94588035-94588047 chr3:94588213-94588222 chr3:94588213-94588222 chr3:94588076-94588085 chr3:94588211-94588224 chr3:94588213-94588222 chr3:94588074-94588085
42	CEBPB	chr3:94647794-94648385	A549	lung:	n/a	chr3:94648062-94648075 chr3:94648062-94648073 chr3:94648062-94648073
43	CEBPB	chr3:94587921-94588253	Hela-S3	cervix:	n/a	chr3:94588075-94588086 chr3:94588035-94588047 chr3:94588213-94588222 chr3:94588213-94588222 chr3:94588076-94588085 chr3:94588211-94588224 chr3:94588213-94588222 chr3:94588074-94588085
44	CEBPB	chr3:94587960-94588265	K562	blood:	n/a	chr3:94588075-94588086 chr3:94588035-94588047 chr3:94588213-94588222 chr3:94588213-94588222 chr3:94588076-94588085 chr3:94588211-94588224 chr3:94588213-94588222 chr3:94588074-94588085
45	CEBPB	chr3:94647863-94648201	ECC-1	luminal epithelium:	n/a	chr3:94648062-94648075 chr3:94648062-94648073 chr3:94648062-94648073
46	CEBPB	chr3:94647796-94648191	IMR90	lung:	n/a	chr3:94648062-94648075 chr3:94648062-94648073 chr3:94648062-94648073
47	CEBPB	chr3:94587916-94588378	HepG2	liver:	n/a	chr3:94588075-94588086 chr3:94588035-94588047 chr3:94588213-94588222 chr3:94588213-94588222 chr3:94588076-94588085 chr3:94588211-94588224 chr3:94588213-94588222 chr3:94588340-94588352 chr3:94588074-94588085
48	CEBPB	chr3:94595109-94595372	A549	lung:	n/a	chr3:94595246-94595257
49	CEBPB	chr3:94647773-94648290	K562	blood:	n/a	chr3:94648062-94648075 chr3:94648062-94648073 chr3:94648062-94648073
50	CEBPB	chr3:94605931-94606193	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:94591956..94593970-chr3:94609551..94611709,2	MCF-7	breast:
2	chr3:94525826..94528541-chr3:94529089..94531852,2	K562	blood:
3	chr3:94637025..94639750-chr3:94640390..94642225,2	MCF-7	breast:
4	chr3:94504783..94506940-chr3:94507538..94510163,2	MCF-7	breast:
5	chr3:94649439..94652058-chr3:94652973..94655338,2	MCF-7	breast:
6	chr3:94525826..94528541-chr3:94529089..94531852,2	K562	blood:
7	chr3:94529128..94531189-chr3:94544772..94547073,2	MCF-7	breast:
8	chr3:94638842..94641507-chr3:94655811..94658557,2	K562	blood:
9	chr3:94529128..94531189-chr3:94544772..94547073,2	MCF-7	breast:
10	chr3:94504783..94506940-chr3:94507538..94510163,2	MCF-7	breast:
11	chr3:94650917..94653045-chr3:94656031..94657752,2	K562	blood:
12	chr3:94646635..94650609-chr3:94654711..94656802,3	K562	blood:
13	chr3:94637025..94639750-chr3:94640390..94642225,2	MCF-7	breast:
14	chr3:94618698..94620290-chr3:94641542..94643092,2	K562	blood:
15	chr3:14789975..14790495-chr3:94581323..94581855,2	MCF-7	breast:
16	chr3:94591956..94593970-chr3:94609551..94611709,2	MCF-7	breast:
17	chr3:94618698..94620290-chr3:94641542..94643092,2	K562	blood:

Variant related genes	Relation type
LINC00879	TF binding region
ENSG00000242911	chromatin interactions
ENSG00000239589	chromatin interactions
ENSG00000234629	chromatin interactions

Extended variants
information (count: 2579 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:2579 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548244086	chr3:94491211-94491212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs545391590	chr3:94491215-94491216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565555158	chr3:94491232-94491233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs9841084	chr3:94491288-94491289	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs370777640	chr3:94491289-94491290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs59286802	chr3:94491311-94491312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs531111828	chr3:94491374-94491375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs9814299	chr3:94491398-94491399	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs77921001	chr3:94491407-94491408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs368739820	chr3:94491466-94491467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs139243093	chr3:94491470-94491471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565562779	chr3:94491517-94491518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181961970	chr3:94491559-94491560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187423413	chr3:94491576-94491577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs142439794	chr3:94491669-94491670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553392948	chr3:94491677-94491678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557185822	chr3:94491680-94491681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567430537	chr3:94491681-94491682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs146372883	chr3:94491697-94491698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs188981365	chr3:94491708-94491709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs573188664	chr3:94491717-94491718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs369981262	chr3:94491721-94491722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs571337908	chr3:94491752-94491753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545361242	chr3:94491765-94491766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs139716151	chr3:94491768-94491769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs575522773	chr3:94491769-94491770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs142904516	chr3:94491795-94491796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs141415085	chr3:94506209-94506210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548834184	chr3:94506210-94506211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560663738	chr3:94506212-94506213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs188768605	chr3:94506233-94506234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs527869589	chr3:94506315-94506316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs546756080	chr3:94506319-94506320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs192476765	chr3:94506321-94506322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs6766302	chr3:94506339-94506340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs139645674	chr3:94506353-94506354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs13324772	chr3:94506382-94506383	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs13314320	chr3:94506393-94506394	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs6780760	chr3:94506423-94506424	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs142836779	chr3:94506440-94506441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs182152130	chr3:94506465-94506466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs13324801	chr3:94506475-94506476	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs186753744	chr3:94506500-94506501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs146083909	chr3:94506514-94506515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs577276064	chr3:94506526-94506527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs571502028	chr3:94506545-94506546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs538872613	chr3:94506588-94506589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs373177230	chr3:94506617-94506618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs557549636	chr3:94506620-94506621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs79870811	chr3:94506624-94506625	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Oral cancer	21386901	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
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	18458336	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
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:94491200-94491800	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr3:94506200-94507200	Enhancers	Fetal Brain Male	brain
3	chr3:94510000-94510600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr3:94529000-94529200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr3:94529600-94530600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr3:94530600-94531000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr3:94539600-94539800	Enhancers	Fetal Brain Female	brain
8	chr3:94539600-94540600	Enhancers	Fetal Brain Male	brain
9	chr3:94540000-94540600	Weak transcription	Fetal Brain Female	brain
10	chr3:94540600-94540800	Enhancers	Fetal Brain Female	brain
11	chr3:94540800-94541800	Weak transcription	Fetal Brain Female	brain
12	chr3:94542000-94542200	Enhancers	Fetal Brain Female	brain
13	chr3:94548200-94549200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr3:94564400-94564800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr3:94579200-94583400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr3:94582800-94584000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr3:94583000-94583800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
18	chr3:94583200-94583400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr3:94583200-94583600	ZNF genes & repeats	Adipose Nuclei	Adipose
20	chr3:94584000-94592800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr3:94585600-94586000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr3:94586000-94586400	Enhancers	Adipose Nuclei	Adipose
23	chr3:94588200-94588400	Enhancers	Adipose Nuclei	Adipose
24	chr3:94592600-94594000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
25	chr3:94592800-94594200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr3:94594000-94594200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr3:94594200-94610000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr3:94605400-94606600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr3:94606200-94606600	Enhancers	Fetal Intestine Large	intestine
30	chr3:94606600-94611600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr3:94611600-94612800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr3:94619800-94620600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr3:94620600-94622400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr3:94622800-94624000	Enhancers	Fetal Heart	heart
35	chr3:94623000-94623600	Enhancers	Hela-S3	cervix
36	chr3:94623200-94623600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr3:94623200-94624000	Enhancers	Fetal Brain Male	brain
38	chr3:94626400-94626800	Enhancers	Placenta Amnion	Placenta Amnion
39	chr3:94626800-94629400	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr3:94628400-94629400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr3:94629400-94629600	Enhancers	Placenta Amnion	Placenta Amnion
42	chr3:94630800-94632600	Enhancers	Hela-S3	cervix
43	chr3:94643800-94645200	Enhancers	Fetal Heart	heart
44	chr3:94644200-94644400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr3:94644200-94644600	Active TSS	Right Atrium	heart
46	chr3:94644200-94645000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr3:94644600-94646400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr3:94645000-94646400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr3:94645200-94649200	Weak transcription	Fetal Heart	heart
50	chr3:94646000-94648400	Enhancers	Hela-S3	cervix

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