Variant report

Variant	esv2422257
Chromosome Location	chr5:104280175-104352732
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:137)
CpG islands
(count:61)
Chromatin interactive
region (count:9)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:137 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr5:104317800-104317805	Hela-S3	cervix:	n/a	n/a
2	BRCA1	chr5:104325896-104325918	Hela-S3	cervix:	n/a	n/a
3	CCNT2	chr5:104306891-104307038	K562	blood:	n/a	n/a
4	CEBPB	chr5:104334377-104334640	K562	blood:	n/a	chr5:104334524-104334537
5	CEBPB	chr5:104288117-104288374	HepG2	liver:	n/a	chr5:104288258-104288271 chr5:104288258-104288269
6	CEBPB	chr5:104321962-104322422	MCF-7	breast:	n/a	n/a
7	CEBPB	chr5:104297579-104297662	HepG2	liver:	n/a	chr5:104297618-104297629 chr5:104297617-104297630
8	CEBPD	chr5:104322765-104323144	K562	blood:	n/a	n/a
9	CHD2	chr5:104323100-104323131	K562	blood:	n/a	n/a
10	CTCF	chr5:104288608-104288628	Medullo	brain:	n/a	n/a
11	CTCF	chr5:104311457-104311553	MCF-7	breast:	n/a	n/a
12	CTCF	chr5:104281767-104281872	Spleen_OC	spleen:	n/a	n/a
13	CTCF	chr5:104322260-104322410	BE2_C	brain:	n/a	n/a
14	CTCF	chr5:104322470-104322512	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr5:104305321-104305354	GM10248	blood:	n/a	n/a
16	CTCF	chr5:104297909-104297968	Lung_OC	lung:	n/a	n/a
17	CTCF	chr5:104300157-104300162	LNCaP	prostate:	n/a	n/a
18	CTCF	chr5:104322420-104322570	MCF-7	breast:	n/a	n/a
19	CTCF	chr5:104300088-104300155	LNCaP	prostate:	n/a	n/a
20	CTCF	chr5:104311439-104311504	GM12892	blood:	n/a	n/a
21	CUX1	chr5:104314298-104314324	GM12878	blood:	n/a	n/a
22	E2F4	chr5:104285147-104285228	MCF10A-Er-Src	breast:	n/a	n/a
23	ELK1	chr5:104310409-104310411	Hela-S3	cervix:	n/a	n/a
24	EP300	chr5:104291684-104292167	SK-N-SH_RA	brain:	n/a	n/a
25	EP300	chr5:104321975-104322442	MCF-7	breast:	n/a	n/a
26	EP300	chr5:104291156-104291544	SK-N-SH_RA	brain:	n/a	n/a
27	EP300	chr5:104291624-104292108	SK-N-SH_RA	brain:	n/a	n/a
28	EP300	chr5:104313970-104314089	K562	blood:	n/a	n/a
29	EP300	chr5:104291220-104291530	SK-N-SH_RA	brain:	n/a	n/a
30	EP300	chr5:104322823-104323205	K562	blood:	n/a	n/a
31	EP300	chr5:104334266-104334668	K562	blood:	n/a	chr5:104334377-104334391
32	FAM48A	chr5:104293212-104293324	GM12878	blood:	n/a	n/a
33	FOS	chr5:104334393-104334604	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr5:104334422-104334610	MCF10A-Er-Src	breast:	n/a	n/a
35	FOXA1	chr5:104313183-104313587	HepG2	liver:	n/a	n/a
36	FOXA1	chr5:104313120-104313561	HepG2	liver:	n/a	n/a
37	FOXA1	chr5:104322116-104322330	T-47D	breast:	n/a	n/a
38	FOXA1	chr5:104313252-104313535	T-47D	breast:	n/a	n/a
39	FOXA1	chr5:104313219-104313575	T-47D	breast:	n/a	n/a
40	FOXA1	chr5:104322111-104322362	T-47D	breast:	n/a	n/a
41	FOXA1	chr5:104313244-104313559	HepG2	liver:	n/a	n/a
42	FOXA1	chr5:104313170-104313569	HepG2	liver:	n/a	n/a
43	FOXA2	chr5:104313140-104313851	HepG2	liver:	n/a	n/a
44	FOXA2	chr5:104313185-104313528	A549	lung:	n/a	n/a
45	FOXA2	chr5:104313260-104313583	HepG2	liver:	n/a	n/a
46	GATA1	chr5:104322806-104323144	PBDEFetal	blood:	n/a	n/a
47	GATA2	chr5:104322817-104323120	K562	blood:	n/a	n/a
48	GATA3	chr5:104313552-104314083	SH-SY5Y	brain:	n/a	n/a
49	GATA3	chr5:104317672-104317863	SH-SY5Y	brain:	n/a	n/a
50	GATA3	chr5:104291553-104292384	SK-N-SH	brain:	n/a	chr5:104291908-104291929

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:104345171-104345221	U87	brain:	n/a
2	chr5:104345171-104345221	PANC-1	pancreas:	n/a
3	chr5:104345171-104345221	HCT-116	colon:	n/a
4	chr5:104345171-104345221	H1-hESC	embryonic stem cell:	embryo
5	chr5:104345171-104345221	SK-N-SH_RA	brain:	n/a
6	chr5:104345171-104345221	ECC-1	luminal epithelium:	n/a
7	chr5:104345171-104345221	Jurkat	blood:	n/a
8	chr5:104345171-104345221	HEEpiC	esophagus:	n/a
9	chr5:104345171-104345221	AG04450	lung:	fetal
10	chr5:104345171-104345221	HUVEC	blood vessel:	n/a
11	chr5:104345171-104345221	HIPEpiC	eye:	n/a
12	chr5:104345171-104345221	HRPEpiC	eye:	n/a
13	chr5:104345171-104345221	HPAEpiC	pulmonary alveolar:	n/a
14	chr5:104345171-104345221	K562	blood:	n/a
15	chr5:104345171-104345221	SK-N-MC	brain:	n/a
16	chr5:104345171-104345221	T-47D	breast:	n/a
17	chr5:104345171-104345221	PrEC	prostate:	n/a
18	chr5:104345171-104345221	AG04449	skin:	fetal
19	chr5:104345171-104345221	NT2-D1	testis:	n/a
20	chr5:104345171-104345221	BE2_C	brain:	n/a
21	chr5:104345171-104345221	Caco-2	colon:	n/a
22	chr5:104345171-104345221	ovcar-3	ovarian:	n/a
23	chr5:104345171-104345221	AG09309	skin:	n/a
24	chr5:104345171-104345221	AG10803	skin:	n/a
25	chr5:104345171-104345221	MCF10A-Er-Src	breast:	n/a
26	chr5:104345171-104345221	GM19239	blood:	n/a
27	chr5:104345171-104345221	GM12891	blood:	n/a
28	chr5:104345171-104345221	HCM	heart:	n/a
29	chr5:104345171-104345221	SK-N-SH	brain:	n/a
30	chr5:104345171-104345221	AG09319	gingival:	n/a
31	chr5:104345171-104345221	GM06990	blood:	n/a
32	chr5:104345171-104345221	CMK	blood:	n/a
33	chr5:104345171-104345221	HRCEpiC	kidney:	n/a
34	chr5:104345171-104345221	LNCaP	prostate:	n/a
35	chr5:104345171-104345221	NHDF-neo	bronchial:	n/a
36	chr5:104345171-104345221	BJ	skin:	n/a
37	chr5:104345171-104345221	HAEpiC	amniotic membrane:	n/a
38	chr5:104345171-104345221	MCF-7	breast:	n/a
39	chr5:104345171-104345221	A549	lung:	n/a
40	chr5:104345171-104345221	Hela-S3	cervix:	n/a
41	chr5:104345171-104345221	SAEC	small airway:	n/a
42	chr5:104345171-104345221	NB4	blood:	n/a
43	chr5:104345171-104345221	RPTEC	kidney:	n/a
44	chr5:104345171-104345221	NH-A	brain:	n/a
45	chr5:104345171-104345221	HepG2	liver:	n/a
46	chr5:104345171-104345221	HL-60	blood:	n/a
47	chr5:104345171-104345221	GM12892	blood:	n/a
48	chr5:104345171-104345221	HMEC	breast:	n/a
49	chr5:104345171-104345221	HNPCEpiC	eye:	n/a
50	chr5:104345171-104345221	AoSMC	blood vessel:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:104296966..104298915-chr5:104301513..104303519,2	K562	blood:
2	chr5:104294786..104295742-chr9:99125283..99126098,2	MCF-7	breast:
3	chr5:104302225..104304920-chr5:104306783..104309637,2	MCF-7	breast:
4	chr17:57921408..57924296-chr5:104291652..104294224,2	MCF-7	breast:
5	chr5:104277822..104279427-chr5:104300449..104302157,2	MCF-7	breast:
6	chr5:104308244..104309781-chr5:104310392..104313289,2	K562	blood:
7	chr5:104308244..104309781-chr5:104310392..104313289,2	K562	blood:
8	chr5:104296966..104298915-chr5:104301513..104303519,2	K562	blood:
9	chr5:104302225..104304920-chr5:104306783..104309637,2	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NUDT12-7	chr5:104315392-104315477	ENSG00000253584
2	lnc-NUDT12-7	chr5:104311375-104311586	ENSG00000253584
3	lnc-NUDT12-7	chr5:104344562-104344612	ENSG00000253584
4	lnc-NUDT12-7	chr5:104344562-104344618	ENSG00000253584
5	lnc-NUDT12-7	chr5:104308988-104309359	ENSG00000253584

No data

Variant related genes	Relation type
ENSG00000253584	TF binding region
ENSG00000253584	CpG island

Extended variants
information (count: 785 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:785 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528571830	chr5:104280188-104280189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs6882503	chr5:104280277-104280278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs377735514	chr5:104280280-104280281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539728818	chr5:104280281-104280282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113040009	chr5:104280282-104280283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556137483	chr5:104280317-104280318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546700360	chr5:104280357-104280358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548917173	chr5:104280383-104280384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569929973	chr5:104280428-104280429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566022390	chr5:104280461-104280462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536675803	chr5:104280488-104280489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs3864256	chr5:104280496-104280497	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs377382253	chr5:104280506-104280507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554928096	chr5:104280511-104280512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571838527	chr5:104280515-104280516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540698680	chr5:104280532-104280533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558348143	chr5:104280538-104280539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182896581	chr5:104280547-104280548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186970286	chr5:104280558-104280559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529593281	chr5:104280575-104280576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543070171	chr5:104280586-104280587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554442814	chr5:104280601-104280602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539159312	chr5:104280607-104280608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559754259	chr5:104280628-104280629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs77885936	chr5:104280650-104280651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192262618	chr5:104280708-104280709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184047700	chr5:104280737-104280738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543716546	chr5:104280739-104280740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187787971	chr5:104280742-104280743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529008915	chr5:104280745-104280746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569886421	chr5:104280752-104280753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191521972	chr5:104280772-104280773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554965108	chr5:104280782-104280783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565304695	chr5:104280812-104280813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs75024713	chr5:104280842-104280843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557523483	chr5:104280863-104280864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577666236	chr5:104280891-104280892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558778853	chr5:104280904-104280905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543701012	chr5:104281005-104281006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374816804	chr5:104281046-104281047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577039917	chr5:104281153-104281154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557505584	chr5:104281232-104281233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182521426	chr5:104281263-104281264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs11952721	chr5:104281268-104281269	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs71588380	chr5:104281278-104281279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs1837249	chr5:104281282-104281283	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs573226562	chr5:104281329-104281330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs140661610	chr5:104281347-104281348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541211711	chr5:104281379-104281380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565275971	chr5:104281419-104281420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Obesity	20622171	CNVD
Schizophrenia	21346763	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:104277600-104283000	Weak transcription	Fetal Intestine Small	intestine
2	chr5:104279200-104283000	Weak transcription	Fetal Intestine Large	intestine
3	chr5:104283000-104283800	Enhancers	Fetal Intestine Large	intestine
4	chr5:104283000-104283800	Enhancers	Fetal Intestine Small	intestine
5	chr5:104283800-104287800	Weak transcription	Fetal Intestine Small	intestine
6	chr5:104287400-104288000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:104287600-104287800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr5:104287600-104288000	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr5:104288000-104290600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:104307400-104307600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:104310000-104310200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:104310000-104310600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:104310200-104310600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:104310600-104312800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:104310600-104312800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:104312800-104313200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:104312800-104313400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:104312800-104313600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr5:104313000-104313600	Enhancers	Aorta	Aorta
20	chr5:104321200-104321400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr5:104322000-104322200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr5:104322000-104323400	Enhancers	Fetal Intestine Small	intestine
23	chr5:104322000-104323600	Enhancers	Fetal Intestine Large	intestine
24	chr5:104322600-104324600	Enhancers	K562	blood
25	chr5:104324800-104326000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr5:104325200-104326400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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