Variant report

Variant	esv3473402
Chromosome Location	chr6:134267059-134271657
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:134268620-134268770	RPTEC	kidney:	n/a	n/a
2	CTCF	chr6:134268540-134268690	RPTEC	kidney:	n/a	n/a
3	CTCF	chr6:134269980-134270130	GM12869	blood:	n/a	n/a
4	CTCF	chr6:134268700-134268850	BE2_C	brain:	n/a	n/a
5	EP300	chr6:134268362-134268862	SK-N-SH_RA	brain:	n/a	n/a
6	EP300	chr6:134268405-134268895	SK-N-SH_RA	brain:	n/a	n/a
7	GATA1	chr6:134268412-134269158	PBDE	blood:	n/a	n/a
8	GATA2	chr6:134268226-134268904	SH-SY5Y	brain:	n/a	n/a
9	GATA3	chr6:134268469-134268978	SH-SY5Y	brain:	n/a	n/a
10	IRF1	chr6:134267784-134267841	K562	blood:	n/a	n/a
11	MYC	chr6:134268756-134268790	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr6:134270288-134270295	ProgFib	skin:	n/a	n/a
13	STAT3	chr6:134270706-134270791	MCF10A-Er-Src	breast:	n/a	n/a
14	TAL1	chr6:134268655-134268895	K562	blood:	n/a	n/a
15	TCF7L2	chr6:134268522-134268807	PANC-1	pancreas:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:134270138-134270188	GM12891	blood:	n/a
2	chr6:134270138-134270188	HNPCEpiC	eye:	n/a
3	chr6:134270138-134270188	IMR90	lung:	fetal
4	chr6:134270138-134270188	Hepatocyte	liver:	n/a
5	chr6:134270138-134270188	HAEpiC	amniotic membrane:	n/a
6	chr6:134270138-134270188	AG04450	lung:	fetal
7	chr6:134270138-134270188	BE2_C	brain:	n/a
8	chr6:134270138-134270188	NHDF-neo	bronchial:	n/a
9	chr6:134270138-134270188	NB4	blood:	n/a
10	chr6:134270138-134270188	HCM	heart:	n/a
11	chr6:134270138-134270188	PrEC	prostate:	n/a
12	chr6:134270138-134270188	HMEC	breast:	n/a
13	chr6:134270138-134270188	H1-hESC	embryonic stem cell:	embryo
14	chr6:134270138-134270188	HepG2	liver:	n/a
15	chr6:134270138-134270188	HL-60	blood:	n/a
16	chr6:134270138-134270188	HEK293	kidney:	embryo
17	chr6:134270138-134270188	K562	blood:	n/a
18	chr6:134270138-134270188	SKMC	muscle:	n/a
19	chr6:134270138-134270188	T-47D	breast:	n/a
20	chr6:134270138-134270188	CMK	blood:	n/a
21	chr6:134270138-134270188	GM12892	blood:	n/a
22	chr6:134270138-134270188	ECC-1	luminal epithelium:	n/a
23	chr6:134270138-134270188	Hela-S3	cervix:	n/a
24	chr6:134270138-134270188	AG09319	gingival:	n/a
25	chr6:134270138-134270188	MCF-7	breast:	n/a
26	chr6:134270138-134270188	HRPEpiC	eye:	n/a
27	chr6:134270138-134270188	HCF	heart:	n/a
28	chr6:134270138-134270188	U87	brain:	n/a
29	chr6:134270138-134270188	GM06990	blood:	n/a
30	chr6:134270138-134270188	HRCEpiC	kidney:	n/a
31	chr6:134270138-134270188	ovcar-3	ovarian:	n/a
32	chr6:134270138-134270188	HPAEpiC	pulmonary alveolar:	n/a
33	chr6:134270138-134270188	NH-A	brain:	n/a
34	chr6:134270138-134270188	A549	lung:	n/a
35	chr6:134270138-134270188	MCF10A-Er-Src	breast:	n/a
36	chr6:134270138-134270188	Jurkat	blood:	n/a
37	chr6:134270138-134270188	RPTEC	kidney:	n/a
38	chr6:134270138-134270188	GM12878	blood:	n/a
39	chr6:134270138-134270188	NHBE	bronchial:	n/a
40	chr6:134270138-134270188	HCPEpiC	choroid plexus:	n/a
41	chr6:134270138-134270188	AG04449	skin:	fetal
42	chr6:134270138-134270188	LNCaP	prostate:	n/a
43	chr6:134270138-134270188	NT2-D1	testis:	n/a
44	chr6:134270138-134270188	AG09309	skin:	n/a
45	chr6:134270138-134270188	HIPEpiC	eye:	n/a
46	chr6:134270138-134270188	AoSMC	blood vessel:	n/a
47	chr6:134270138-134270188	PANC-1	pancreas:	n/a
48	chr6:134270138-134270188	Caco-2	colon:	n/a
49	chr6:134270138-134270188	SK-N-SH_RA	brain:	n/a
50	chr6:134270138-134270188	SK-N-SH	brain:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:134258075..134267958-chr6:134268539..134275229,14	MCF-7	breast:
2	chr6:134260984..134262645-chr6:134269778..134271680,2	K562	blood:
3	chr6:134259055..134262632-chr6:134266342..134269518,3	K562	blood:
4	chr6:134265257..134267500-chr6:134337643..134340171,2	K562	blood:

No data

Variant related genes	Relation type
TBPL1	TF binding region
TBPL1	CpG island
ENSG00000028839	chromatin interactions

Extended variants
information (count: 130 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138882039	chr6:134267062-134267063	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs79380667	chr6:134267137-134267138	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs570880145	chr6:134267151-134267152	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs560828630	chr6:134267152-134267153	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs141448543	chr6:134267183-134267184	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs374583683	chr6:134267194-134267195	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs545744038	chr6:134267210-134267211	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs531992796	chr6:134267246-134267247	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs150889540	chr6:134267321-134267322	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs531658473	chr6:134267431-134267432	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs548297235	chr6:134267463-134267464	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs568489586	chr6:134267524-134267525	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs529883705	chr6:134267705-134267706	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs566801295	chr6:134267712-134267713	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs534556171	chr6:134267732-134267733	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs1883876	chr6:134267789-134267790	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs184043417	chr6:134267817-134267818	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs956102	chr6:134267835-134267836	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs138271910	chr6:134267860-134267861	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs75800244	chr6:134267876-134267877	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
21	rs548286643	chr6:134267899-134267900	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs199589898	chr6:134267919-134267920	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs537906309	chr6:134267926-134267927	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs558550117	chr6:134267928-134267929	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs368810121	chr6:134267934-134267935	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs568888884	chr6:134267954-134267955	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs956103	chr6:134267965-134267966	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs556718041	chr6:134267970-134267971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs377621413	chr6:134267976-134267977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs534849478	chr6:134267978-134267979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs567694921	chr6:134268003-134268004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs533584170	chr6:134268012-134268013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs578046325	chr6:134268033-134268034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553249789	chr6:134268076-134268077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577425810	chr6:134268088-134268089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs546104482	chr6:134268097-134268098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs377634403	chr6:134268139-134268140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs370778346	chr6:134268147-134268148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs149573352	chr6:134268288-134268289	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs144382546	chr6:134268336-134268337	Weak transcription Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs9493765	chr6:134268338-134268339	Weak transcription Active TSS Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs186924854	chr6:134268342-134268343	Weak transcription Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs527830668	chr6:134268372-134268373	Weak transcription Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs141795273	chr6:134268382-134268383	Weak transcription Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs140989026	chr6:134268400-134268401	Weak transcription Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs375920404	chr6:134268476-134268477	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs532415848	chr6:134268487-134268488	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs144224951	chr6:134268492-134268493	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs147340181	chr6:134268493-134268494	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs112036679	chr6:134268517-134268518	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	18641027	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:134265400-134268000	Weak transcription	Gastric	stomach
2	chr6:134266200-134268000	Weak transcription	K562	blood
3	chr6:134266600-134268000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:134266600-134272400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr6:134266800-134272200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr6:134267000-134272200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr6:134267800-134271600	Enhancers	Liver	Liver
8	chr6:134268000-134268200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr6:134268000-134268200	Enhancers	Gastric	stomach
10	chr6:134268000-134268200	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr6:134268000-134268200	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr6:134268000-134268600	Enhancers	Fetal Brain Female	brain
13	chr6:134268000-134269000	Enhancers	K562	blood
14	chr6:134268000-134270200	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr6:134268000-134270400	Enhancers	Duodenum Mucosa	Duodenum
16	chr6:134268000-134270400	Enhancers	Pancreas	Pancrea
17	chr6:134268200-134268400	Active TSS	Aorta	Aorta
18	chr6:134268200-134269200	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr6:134268200-134269600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr6:134268200-134270000	Weak transcription	Gastric	stomach
21	chr6:134268200-134270600	Enhancers	Stomach Mucosa	stomach
22	chr6:134268400-134272200	Weak transcription	Aorta	Aorta
23	chr6:134268600-134272400	Weak transcription	Fetal Brain Female	brain
24	chr6:134269000-134272400	Weak transcription	K562	blood
25	chr6:134269200-134270000	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr6:134269600-134270200	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr6:134270000-134270400	Enhancers	Gastric	stomach
28	chr6:134270000-134272400	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr6:134270200-134272400	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr6:134270200-134272400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr6:134270400-134272200	Weak transcription	Duodenum Mucosa	Duodenum
32	chr6:134270400-134272200	Weak transcription	Gastric	stomach
33	chr6:134270400-134272400	Weak transcription	Pancreas	Pancrea
34	chr6:134270600-134272200	Weak transcription	Stomach Mucosa	stomach
35	chr6:134271600-134272000	Weak transcription	Liver	Liver

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