Variant report

Variant	esv3448834
Chromosome Location	chr6:58255493-58263491
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:183)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr6:58262093-58262326	K562	blood:	n/a	n/a
2	CEBPB	chr6:58262027-58262420	K562	blood:	n/a	n/a
3	CTCF	chr6:58256381-58256729	K562	blood:	n/a	n/a
4	CTCF	chr6:58262100-58262250	GM12875	blood:	n/a	n/a
5	CTCF	chr6:58261980-58262273	K562	blood:	n/a	n/a
6	CTCF	chr6:58261871-58262335	K562	blood:	n/a	n/a
7	CTCF	chr6:58262040-58262190	HEK293	kidney:	n/a	n/a
8	CTCF	chr6:58262020-58262170	WERI-Rb-1	eye:	n/a	n/a
9	CTCF	chr6:58262080-58262230	GM12871	blood:	n/a	n/a
10	CTCF	chr6:58256365-58256688	K562	blood:	n/a	n/a
11	CTCF	chr6:58261965-58262278	K562	blood:	n/a	n/a
12	CTCF	chr6:58262080-58262230	SK-N-SH_RA	brain:	n/a	n/a
13	FOXA1	chr6:58257736-58258122	HepG2	liver:	n/a	n/a
14	GABPA	chr6:58255406-58255607	Hela-S3	cervix:	n/a	n/a
15	NR2F2	chr6:58262063-58262376	K562	blood:	n/a	n/a
16	PAX5	chr6:58255269-58255528	GM12878	blood:	n/a	n/a
17	PAX5	chr6:58259787-58260056	GM12878	blood:	n/a	n/a
18	PAX5	chr6:58260694-58260873	GM12878	blood:	n/a	n/a
19	PBX3	chr6:58257922-58258171	GM12878	blood:	n/a	n/a
20	POLR2A	chr6:58260628-58260798	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr6:58255389-58255681	GM12878	blood:	n/a	n/a
22	POLR2A	chr6:58262973-58263139	GM12878	blood:	n/a	n/a
23	POU2F2	chr6:58257863-58258217	GM12878	blood:	n/a	n/a
24	SPI1	chr6:58255389-58255603	GM12878	blood:	n/a	n/a
25	USF1	chr6:58261152-58261254	HepG2	liver:	n/a	n/a
26	ZBTB7A	chr6:58262092-58262200	K562	blood:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:58259157-58259207	AG04450	lung:	fetal
2	chr6:58263193-58263243	HPAEpiC	pulmonary alveolar:	n/a
3	chr6:58263122-58263172	ProgFib	skin:	n/a
4	chr6:58259157-58259207	H1-hESC	embryonic stem cell:	embryo
5	chr6:58259157-58259207	AG04449	skin:	fetal
6	chr6:58263122-58263172	BE2_C	brain:	n/a
7	chr6:58263122-58263172	IMR90	lung:	fetal
8	chr6:58259157-58259207	BE2_C	brain:	n/a
9	chr6:58263122-58263172	HepG2	liver:	n/a
10	chr6:58263122-58263172	HAEpiC	amniotic membrane:	n/a
11	chr6:58259157-58259207	SKMC	muscle:	n/a
12	chr6:58263193-58263243	HAEpiC	amniotic membrane:	n/a
13	chr6:58263122-58263172	BJ	skin:	n/a
14	chr6:58263193-58263243	BJ	skin:	n/a
15	chr6:58259157-58259207	PrEC	prostate:	n/a
16	chr6:58263193-58263243	GM06990	blood:	n/a
17	chr6:58263122-58263172	GM19239	blood:	n/a
18	chr6:58263193-58263243	Caco-2	colon:	n/a
19	chr6:58263122-58263172	HRPEpiC	eye:	n/a
20	chr6:58263122-58263172	PFSK-1	brain:	n/a
21	chr6:58259157-58259207	ECC-1	luminal epithelium:	n/a
22	chr6:58259157-58259207	AG09309	skin:	n/a
23	chr6:58259157-58259207	HAEpiC	amniotic membrane:	n/a
24	chr6:58263122-58263172	SK-N-SH_RA	brain:	n/a
25	chr6:58259157-58259207	IMR90	lung:	fetal
26	chr6:58263122-58263172	ovcar-3	ovarian:	n/a
27	chr6:58263193-58263243	IMR90	lung:	fetal
28	chr6:58259157-58259207	HIPEpiC	eye:	n/a
29	chr6:58263122-58263172	GM12892	blood:	n/a
30	chr6:58263122-58263172	PANC-1	pancreas:	n/a
31	chr6:58263122-58263172	SK-N-MC	brain:	n/a
32	chr6:58263122-58263172	HRCEpiC	kidney:	n/a
33	chr6:58263122-58263172	NH-A	brain:	n/a
34	chr6:58259157-58259207	GM06990	blood:	n/a
35	chr6:58263193-58263243	Jurkat	blood:	n/a
36	chr6:58263193-58263243	GM12878	blood:	n/a
37	chr6:58259157-58259207	HPAEpiC	pulmonary alveolar:	n/a
38	chr6:58263122-58263172	NHDF-neo	bronchial:	n/a
39	chr6:58259157-58259207	GM12892	blood:	n/a
40	chr6:58259157-58259207	AG10803	skin:	n/a
41	chr6:58259157-58259207	ovcar-3	ovarian:	n/a
42	chr6:58263122-58263172	GM06990	blood:	n/a
43	chr6:58259157-58259207	SK-N-SH	brain:	n/a
44	chr6:58263193-58263243	SAEC	small airway:	n/a
45	chr6:58263193-58263243	RPTEC	kidney:	n/a
46	chr6:58263193-58263243	BE2_C	brain:	n/a
47	chr6:58263193-58263243	NT2-D1	testis:	n/a
48	chr6:58259157-58259207	U87	brain:	n/a
49	chr6:58263193-58263243	AG04449	skin:	fetal
50	chr6:58263193-58263243	NB4	blood:	n/a

No data

Variant related genes	Relation type
GUSBP4	TF binding region
POM121L14P	TF binding region
GUSBP4	CpG island
POM121L14P	CpG island

Extended variants
information (count: 334 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:334 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535664108	chr6:58255528-58255529	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs62412560	chr6:58255541-58255542	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs575639101	chr6:58255614-58255615	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs9500244	chr6:58255676-58255677	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs564150438	chr6:58255691-58255692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs193230081	chr6:58255721-58255722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544615513	chr6:58255729-58255730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370482125	chr6:58255730-58255731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs12200131	chr6:58255794-58255795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540295492	chr6:58255977-58255978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373920672	chr6:58256031-58256032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561643141	chr6:58256038-58256039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529430611	chr6:58256068-58256069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1811820	chr6:58256092-58256093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544428761	chr6:58256093-58256094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562837410	chr6:58256103-58256104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533483815	chr6:58256134-58256135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1811821	chr6:58256141-58256142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs1811822	chr6:58256145-58256146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1811823	chr6:58256167-58256168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs367772324	chr6:58256174-58256175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs199868878	chr6:58256199-58256200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs202015865	chr6:58256214-58256215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs199919343	chr6:58256216-58256217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200286845	chr6:58256217-58256218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs367618380	chr6:58256218-58256219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371456789	chr6:58256220-58256221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1811824	chr6:58256221-58256222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566814326	chr6:58256255-58256256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527709740	chr6:58256259-58256260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2005621	chr6:58256266-58256267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs4072011	chr6:58256311-58256312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549425457	chr6:58256333-58256334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs3896126	chr6:58256341-58256342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs199937234	chr6:58256348-58256349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs4080314	chr6:58256359-58256360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535623719	chr6:58256396-58256397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs9689241	chr6:58256398-58256399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201864899	chr6:58256403-58256404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112343293	chr6:58256424-58256425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs9688978	chr6:58256431-58256432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557240901	chr6:58256436-58256437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557145265	chr6:58256486-58256487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs9689248	chr6:58256546-58256547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569164446	chr6:58256603-58256604	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs9689250	chr6:58256633-58256634	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs113951650	chr6:58256695-58256696	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs539705154	chr6:58256720-58256721	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs557789011	chr6:58256725-58256726	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs112464044	chr6:58256807-58256808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Neuroblastoma	16790693	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:58243000-58272800	Weak transcription	Fetal Intestine Small	intestine
2	chr6:58244000-58258600	Weak transcription	Pancreas	Pancrea
3	chr6:58244000-58272400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr6:58244200-58287200	Weak transcription	Right Ventricle	heart
5	chr6:58244400-58272600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr6:58244800-58273000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr6:58245800-58261800	Weak transcription	Aorta	Aorta
8	chr6:58245800-58272400	Weak transcription	Fetal Brain Female	brain
9	chr6:58245800-58272800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr6:58245800-58275000	Weak transcription	Brain Angular Gyrus	brain
11	chr6:58246400-58255600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:58247200-58272400	Weak transcription	Left Ventricle	heart
13	chr6:58247200-58273200	Weak transcription	Primary B cells from peripheral blood	blood
14	chr6:58248800-58272400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr6:58249000-58257800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr6:58250800-58272400	Weak transcription	Fetal Muscle Leg	muscle
17	chr6:58250800-58275000	Weak transcription	Gastric	stomach
18	chr6:58250800-58287200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr6:58251000-58272400	Weak transcription	Spleen	Spleen
20	chr6:58251200-58258600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr6:58251200-58272400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr6:58251200-58272400	Weak transcription	Liver	Liver
23	chr6:58255200-58263800	Weak transcription	Fetal Stomach	stomach
24	chr6:58255200-58272400	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr6:58261400-58286600	Weak transcription	Brain Germinal Matrix	brain

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