Variant report

Variant	esv3406682
Chromosome Location	chr5:69780596-69789894
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:45)
CpG islands
(count:123)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:45 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr5:69781749-69782068	K562	blood:	n/a	n/a
2	CEBPB	chr5:69781791-69781995	K562	blood:	n/a	n/a
3	CEBPB	chr5:69781664-69782080	K562	blood:	n/a	n/a
4	CTCF	chr5:69781693-69781995	K562	blood:	n/a	n/a
5	CTCF	chr5:69781660-69782018	K562	blood:	n/a	n/a
6	CTCF	chr5:69781638-69781972	K562	blood:	n/a	n/a
7	FOXP2	chr5:69785416-69785822	PFSK-1	brain:	n/a	n/a
8	GABPA	chr5:69781476-69781600	Hela-S3	cervix:	n/a	n/a
9	GABPA	chr5:69785256-69785360	Hela-S3	cervix:	n/a	n/a
10	NR2F2	chr5:69781733-69782058	K562	blood:	n/a	n/a
11	PAX5	chr5:69785191-69785375	GM12878	blood:	n/a	n/a
12	PAX5	chr5:69786005-69786199	GM12878	blood:	n/a	n/a
13	PBX3	chr5:69785262-69785360	GM12878	blood:	n/a	n/a
14	PBX3	chr5:69784442-69784553	GM12878	blood:	n/a	n/a
15	POLR2A	chr5:69785988-69786208	GM12878	blood:	n/a	n/a
16	POLR2A	chr5:69784199-69785760	GM12892	blood:	n/a	n/a
17	POLR2A	chr5:69782728-69782892	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr5:69786209-69786627	GM12878	blood:	n/a	n/a
19	POLR2A	chr5:69785894-69786781	GM12878	blood:	n/a	n/a
20	POLR2A	chr5:69784819-69785003	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr5:69784262-69785121	GM12878	blood:	n/a	n/a
22	POLR2A	chr5:69781131-69781464	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr5:69781246-69781450	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr5:69784325-69784615	GM12878	blood:	n/a	n/a
25	POLR2A	chr5:69782761-69782857	A549	lung:	n/a	n/a
26	POLR2A	chr5:69784219-69785858	GM12878	blood:	n/a	n/a
27	POLR2A	chr5:69782736-69782889	GM12878	blood:	n/a	n/a
28	POLR2A	chr5:69786013-69786267	GM12878	blood:	n/a	n/a
29	POLR2A	chr5:69785182-69785392	GM12878	blood:	n/a	n/a
30	POLR2A	chr5:69784340-69784508	H1-hESC	embryonic stem cell:	n/a	n/a
31	POU2F2	chr5:69784471-69784987	GM12878	blood:	n/a	n/a
32	POU2F2	chr5:69786221-69786686	GM12878	blood:	n/a	n/a
33	POU2F2	chr5:69785454-69785715	GM12878	blood:	n/a	n/a
34	POU2F2	chr5:69785162-69785417	GM12878	blood:	n/a	n/a
35	POU2F2	chr5:69786062-69786189	GM12878	blood:	n/a	n/a
36	REST	chr5:69785998-69786613	SK-N-SH	brain:	n/a	n/a
37	SPI1	chr5:69781469-69781616	K562	blood:	n/a	n/a
38	TCF12	chr5:69786038-69786200	GM12878	blood:	n/a	n/a
39	TCF12	chr5:69784324-69784517	GM12878	blood:	n/a	n/a
40	TCF3	chr5:69784744-69785016	GM12878	blood:	n/a	n/a
41	TCF3	chr5:69784412-69784626	GM12878	blood:	n/a	n/a
42	TCF3	chr5:69786027-69786261	GM12878	blood:	n/a	n/a
43	USF1	chr5:69784425-69784555	HepG2	liver:	n/a	n/a
44	ZBTB33	chr5:69784337-69784628	GM12878	blood:	n/a	n/a
45	ZBTB33	chr5:69782703-69782908	K562	blood:	n/a	n/a

(count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:69784092-69784142	AG04450	lung:	fetal
2	chr5:69784092-69784142	AG04450	lung:	fetal
3	chr5:69784092-69784142	HCM	heart:	n/a
4	chr5:69783979-69784029	HUVEC	blood vessel:	n/a
5	chr5:69783979-69784029	GM12891	blood:	n/a
6	chr5:69783979-69784029	HIPEpiC	eye:	n/a
7	chr5:69784092-69784142	A549	lung:	n/a
8	chr5:69783979-69784029	T-47D	breast:	n/a
9	chr5:69783979-69784029	ovcar-3	ovarian:	n/a
10	chr5:69784092-69784142	HEK293	kidney:	embryo
11	chr5:69783979-69784029	HAEpiC	amniotic membrane:	n/a
12	chr5:69784092-69784142	H1-hESC	embryonic stem cell:	embryo
13	chr5:69784092-69784142	ProgFib	skin:	n/a
14	chr5:69784092-69784142	SKMC	muscle:	n/a
15	chr5:69783979-69784029	HEK293	kidney:	embryo
16	chr5:69784092-69784142	HAEpiC	amniotic membrane:	n/a
17	chr5:69784092-69784142	PrEC	prostate:	n/a
18	chr5:69783979-69784029	SK-N-SH_RA	brain:	n/a
19	chr5:69784092-69784142	U87	brain:	n/a
20	chr5:69783979-69784029	HCT-116	colon:	n/a
21	chr5:69784092-69784142	K562	blood:	n/a
22	chr5:69784092-69784142	CMK	blood:	n/a
23	chr5:69783979-69784029	AG09309	skin:	n/a
24	chr5:69783979-69784029	Jurkat	blood:	n/a
25	chr5:69784092-69784142	AoSMC	blood vessel:	n/a
26	chr5:69784092-69784142	Hela-S3	cervix:	n/a
27	chr5:69783979-69784029	AoSMC	blood vessel:	n/a
28	chr5:69784092-69784142	NT2-D1	testis:	n/a
29	chr5:69783979-69784029	CMK	blood:	n/a
30	chr5:69784092-69784142	MCF-7	breast:	n/a
31	chr5:69783979-69784029	GM06990	blood:	n/a
32	chr5:69783979-69784029	NB4	blood:	n/a
33	chr5:69784092-69784142	SAEC	small airway:	n/a
34	chr5:69783979-69784029	GM12878	blood:	n/a
35	chr5:69784092-69784142	SK-N-SH	brain:	n/a
36	chr5:69784092-69784142	HL-60	blood:	n/a
37	chr5:69783979-69784029	Caco-2	colon:	n/a
38	chr5:69784092-69784142	HCT-116	colon:	n/a
39	chr5:69784092-69784142	HRE	kidney:	n/a
40	chr5:69784092-69784142	AG04449	skin:	fetal
41	chr5:69783979-69784029	ProgFib	skin:	n/a
42	chr5:69783979-69784029	HRE	kidney:	n/a
43	chr5:69783979-69784029	NHBE	bronchial:	n/a
44	chr5:69783979-69784029	GM19239	blood:	n/a
45	chr5:69784092-69784142	GM19239	blood:	n/a
46	chr5:69783979-69784029	HL-60	blood:	n/a
47	chr5:69783979-69784029	AG04449	skin:	fetal
48	chr5:69783979-69784029	MCF-7	breast:	n/a
49	chr5:69784092-69784142	AG10803	skin:	n/a
50	chr5:69783979-69784029	H1-hESC	embryonic stem cell:	embryo

No data

Variant related genes	Relation type
ENSG00000237075	TF binding region
ENSG00000237075	CpG island

Extended variants
information (count: 79 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113081490	chr5:69781284-69781285	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs113016201	chr5:69782853-69782854	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs376402112	chr5:69783994-69783995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370188989	chr5:69784072-69784073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184815988	chr5:69784075-69784076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368078198	chr5:69784179-69784180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200136267	chr5:69784264-69784265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528859940	chr5:69784336-69784337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201289549	chr5:69784338-69784339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541743421	chr5:69784341-69784342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559785606	chr5:69784360-69784361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533620403	chr5:69784367-69784368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552013303	chr5:69784373-69784374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs77017495	chr5:69784404-69784405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs76521570	chr5:69784405-69784406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs74790668	chr5:69784419-69784420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189469575	chr5:69784421-69784422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531451146	chr5:69784436-69784437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549436426	chr5:69784442-69784443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373964471	chr5:69784474-69784475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368678854	chr5:69784481-69784482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534702192	chr5:69784620-69784621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372316239	chr5:69784648-69784649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565638930	chr5:69784682-69784683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539305143	chr5:69784693-69784694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs202023033	chr5:69784696-69784697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs62371814	chr5:69784703-69784704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536776057	chr5:69784723-69784724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555152137	chr5:69784744-69784745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201270045	chr5:69784745-69784746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540666949	chr5:69784754-69784755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559262233	chr5:69784757-69784758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563835525	chr5:69784768-69784769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs578254019	chr5:69784774-69784775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545690985	chr5:69784775-69784776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563900959	chr5:69784818-69784819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531113683	chr5:69784819-69784820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549499015	chr5:69784835-69784836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561224736	chr5:69784871-69784872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528541280	chr5:69784874-69784875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546683695	chr5:69784896-69784897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571271252	chr5:69784913-69784914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs202138196	chr5:69784965-69784966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551238326	chr5:69784990-69784991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200328861	chr5:69785004-69785005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182173839	chr5:69785006-69785007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528892300	chr5:69785007-69785008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201346878	chr5:69785028-69785029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111417217	chr5:69785029-69785030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs199526518	chr5:69785142-69785143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:120)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ovarian cancer	21781307	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	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
Hepatocellular carcinoma	16750200	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
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
abnormal development	18461090	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21045282	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Myelodysplastic syndrome	18663149	CNVD
Spinal muscular atrophy	15981080	CNVD
Spinal muscular atrophy	18839960	CNVD
Spinal muscular atrophy	19716110	CNVD
Sezary syndrome	18413736	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21990379	CNVD
Hirschsprung''s Disease	21712996	CNVD
Apoptosis	19488400	CNVD
Breast cancer	22048815	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Acute monocytic leukemia	16498392	CNVD
Colorectal cancer	20459617	CNVD
Gastric adenocarcinoma	19115996	CNVD
Spinal muscular atrophy	17160897	CNVD
Spinal muscular atrophy	17668391	CNVD
Spinal muscular atrophy	17668395	CNVD
Glioblastoma multiforme	22286061	CNVD
craniofacial dysmorphism	21918468	CNVD
Multiple myeloma	16616336	CNVD
Prostate cancer	16461572	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pseudo-TORCH syndrome	20727516	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Obesity	21131291	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	21364760	CNVD
Mental retardation	20877625	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Spinal muscular atrophy	17647030	CNVD
Spinal muscular atrophy	20937953	CNVD
Spinal muscular atrophy	20442745	CNVD
Spinal muscular atrophy	21227393	CNVD
Breast cancer	21509527	CNVD
Disease	19212409	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:69783400-69790400	Weak transcription	Fetal Intestine Small	intestine

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