Variant report

Variant	esv3507844
Chromosome Location	chr6:132113059-132119657
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:74)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:74 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr6:132113166-132113544	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr6:132113540-132113690	AG09309	skin:	n/a	n/a
3	CTCF	chr6:132113360-132113510	HAc	cerebellar:	n/a	n/a
4	CTCF	chr6:132113500-132113650	HBMEC	blood vessel:	n/a	n/a
5	CTCF	chr6:132113500-132113650	HEK293	kidney:	n/a	n/a
6	CTCF	chr6:132113540-132113690	HFF-Myc	foreskin:	n/a	n/a
7	CTCF	chr6:132113440-132113590	AG04449	skin:	n/a	n/a
8	CTCF	chr6:132113421-132113687	K562	blood:	n/a	n/a
9	CTCF	chr6:132113460-132113610	HCT-116	colon:	n/a	n/a
10	CTCF	chr6:132113380-132113530	NHEK	skin:	n/a	n/a
11	CTCF	chr6:132113460-132113610	HCFaa	heart:	n/a	n/a
12	CTCF	chr6:132113498-132113612	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr6:132113502-132113585	MCF-7	breast:	n/a	n/a
14	CTCF	chr6:132113520-132113670	RPTEC	kidney:	n/a	n/a
15	CTCF	chr6:132113480-132113630	HepG2	liver:	n/a	n/a
16	CTCF	chr6:132113480-132113630	HRPEpiC	eye:	n/a	n/a
17	CTCF	chr6:132113560-132113710	HRPEpiC	eye:	n/a	n/a
18	CTCF	chr6:132113481-132113645	MCF-7	breast:	n/a	n/a
19	CTCF	chr6:132113540-132113690	NHEK	skin:	n/a	n/a
20	CTCF	chr6:132113460-132113610	AG09309	skin:	n/a	n/a
21	CTCF	chr6:132113520-132113670	HEEpiC	esophagus:	n/a	n/a
22	CTCF	chr6:132113480-132113630	MCF-7	breast:	n/a	n/a
23	CTCF	chr6:132113440-132113590	HRE	kidney:	n/a	n/a
24	CTCF	chr6:132113560-132113710	HA-sp	spinal cord:	n/a	n/a
25	CTCF	chr6:132113480-132113630	HMF	breast:	n/a	n/a
26	CTCF	chr6:132113380-132113610	A549	lung:	n/a	n/a
27	CTCF	chr6:132113532-132113581	A549	lung:	n/a	n/a
28	CTCF	chr6:132113483-132113611	ProgFib	skin:	n/a	n/a
29	CTCF	chr6:132113500-132113650	HCT-116	colon:	n/a	n/a
30	CTCF	chr6:132113518-132113583	K562	blood:	n/a	n/a
31	CTCF	chr6:132113456-132113634	IMR90	lung:	n/a	n/a
32	CTCF	chr6:132113513-132113563	MCF-7	breast:	n/a	n/a
33	CTCF	chr6:132113440-132113590	HMEC	breast:	n/a	n/a
34	CTCF	chr6:132113380-132113530	RPTEC	kidney:	n/a	n/a
35	CTCF	chr6:132113520-132113670	AG10803	skin:	n/a	n/a
36	CTCF	chr6:132113502-132113645	HepG2	liver:	n/a	n/a
37	CTCF	chr6:132113460-132113610	HEK293	kidney:	n/a	n/a
38	CTCF	chr6:132113440-132113590	HepG2	liver:	n/a	n/a
39	CTCF	chr6:132113440-132113590	HMF	breast:	n/a	n/a
40	CTCF	chr6:132113480-132113630	HA-sp	spinal cord:	n/a	n/a
41	CTCF	chr6:132113520-132113670	K562	blood:	n/a	n/a
42	CTCF	chr6:132113456-132113667	MCF-7	breast:	n/a	n/a
43	CTCF	chr6:132113480-132113630	SAEC	small airway:	n/a	n/a
44	CTCF	chr6:132113404-132113654	HepG2	liver:	n/a	n/a
45	CTCF	chr6:132113506-132113626	LNCaP	prostate:	n/a	n/a
46	CTCF	chr6:132113428-132113687	Gliobla	brain:	n/a	n/a
47	CTCF	chr6:132113460-132113610	HBMEC	blood vessel:	n/a	n/a
48	CTCF	chr6:132113540-132113690	HEEpiC	esophagus:	n/a	n/a
49	CTCF	chr6:132113527-132113579	Hela-S3	cervix:	n/a	n/a
50	CTCF	chr6:132113480-132113630	Hela-S3	cervix:	n/a	n/a

No data

miRNA name	Chromosome Location	mirBase accession
hsa-miR-548h-5p	chr6:132113314-132113335	MIMAT0005928_3

No data

Variant related genes	Relation type
MIR548H5	TF binding region

Extended variants
information (count: 186 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:186 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150115628	chr6:132113061-132113062	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs568903592	chr6:132113070-132113071	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs528416962	chr6:132113105-132113106	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs371487670	chr6:132113106-132113107	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs7757394	chr6:132113126-132113127	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs7757411	chr6:132113141-132113142	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs145552275	chr6:132113176-132113177	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs557110277	chr6:132113188-132113189	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs112144760	chr6:132113205-132113206	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs61276918	chr6:132113207-132113208	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs554312552	chr6:132113210-132113211	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs190111256	chr6:132113244-132113245	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs534994343	chr6:132113264-132113265	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs141352124	chr6:132113265-132113266	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs113657016	chr6:132113280-132113281	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs545232207	chr6:132113285-132113286	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs563884068	chr6:132113344-132113345	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs575696829	chr6:132113349-132113350	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs543099787	chr6:132113371-132113372	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs561136865	chr6:132113377-132113378	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs181762625	chr6:132113384-132113385	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs34791047	chr6:132113398-132113399	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs9493099	chr6:132113403-132113404	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs185522902	chr6:132113422-132113423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs34255456	chr6:132113452-132113453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs553926638	chr6:132113493-132113494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550819233	chr6:132113523-132113524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs569029375	chr6:132113525-132113526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs375621256	chr6:132113577-132113578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs112435352	chr6:132113578-132113579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs57495223	chr6:132113588-132113589	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs56813879	chr6:132113604-132113605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35893614	chr6:132113675-132113676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533516744	chr6:132113687-132113688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs17053505	chr6:132113814-132113815	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs76403653	chr6:132113818-132113819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190237411	chr6:132113859-132113860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147006008	chr6:132113914-132113915	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200482466	chr6:132113924-132113925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs146616914	chr6:132113932-132113933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112605058	chr6:132113933-132113934	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs72175487	chr6:132113934-132113935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs36006377	chr6:132113935-132113936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200928392	chr6:132113936-132113937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555876334	chr6:132114003-132114004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575754855	chr6:132114011-132114012	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138221697	chr6:132114026-132114027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373642541	chr6:132114033-132114034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573293697	chr6:132114055-132114056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540667658	chr6:132114063-132114064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Autism	22495311	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
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Gastric cancer	17908304	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21785460	CNVD
Kartagener syndrome	16639409	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18592004	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132109800-132113200	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr6:132110800-132113200	Weak transcription	NH-A	brain
3	chr6:132112600-132114200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr6:132112800-132113400	Enhancers	H1 Cell Line	embryonic stem cell
5	chr6:132112800-132113600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:132112800-132113600	Enhancers	Fetal Stomach	stomach
7	chr6:132112800-132114200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr6:132112800-132114200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr6:132112800-132114200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr6:132113000-132113400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr6:132113000-132113400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr6:132113000-132113400	Enhancers	Fetal Muscle Trunk	muscle
13	chr6:132113000-132113600	Enhancers	Fetal Muscle Leg	muscle
14	chr6:132113000-132113600	Enhancers	Placenta	Placenta
15	chr6:132113200-132113600	Enhancers	Fetal Thymus	thymus
16	chr6:132113200-132113600	Enhancers	NH-A	brain
17	chr6:132113200-132114200	Enhancers	H9 Cell Line	embryonic stem cell
18	chr6:132113200-132114200	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr6:132113200-132114200	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr6:132113400-132113800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr6:132113600-132114400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr6:132114200-132116400	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr6:132114200-132116400	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr6:132114200-132116400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr6:132114400-132114600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr6:132116400-132116600	Enhancers	H9 Cell Line	embryonic stem cell
27	chr6:132116400-132117000	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr6:132116400-132117000	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr6:132116400-132117200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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