Variant report

Variant	esv1197130
Chromosome Location	chr6:118228371-118228374
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr6:118228015-118228606	H1-hESC	embryonic stem cell:	n/a	n/a
2	CHD2	chr6:118228033-118228426	H1-hESC	embryonic stem cell:	n/a	n/a
3	CREB1	chr6:118227880-118228494	H1-hESC	embryonic stem cell:	n/a	n/a
4	CREB1	chr6:118227949-118228483	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTBP2	chr6:118227970-118229940	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr6:118228029-118228516	MCF-7	breast:	n/a	chr6:118228288-118228304
7	CTCF	chr6:118228147-118228493	HepG2	liver:	n/a	chr6:118228288-118228304
8	CTCF	chr6:118228171-118228435	GM13977	blood:	n/a	chr6:118228288-118228304
9	CTCF	chr6:118228156-118228402	MCF-7	breast:	n/a	chr6:118228288-118228304
10	CTCF	chr6:118228091-118228577	K562	blood:	n/a	chr6:118228288-118228304
11	CTCF	chr6:118228143-118228375	NHEK	skin:	n/a	chr6:118228288-118228304
12	CTCF	chr6:118228092-118228436	K562	blood:	n/a	chr6:118228288-118228304
13	CTCF	chr6:118228135-118228479	GM19238	blood:	n/a	chr6:118228288-118228304
14	CTCF	chr6:118228118-118228568	GM12891	blood:	n/a	chr6:118228288-118228304
15	CTCF	chr6:118228107-118228457	IMR90	lung:	n/a	chr6:118228288-118228304
16	CTCF	chr6:118228135-118228426	MCF-7	breast:	n/a	chr6:118228288-118228304
17	CTCF	chr6:118228104-118228398	A549	lung:	n/a	chr6:118228288-118228304
18	CTCF	chr6:118228229-118228401	LNCaP	prostate:	n/a	chr6:118228288-118228304
19	CTCF	chr6:118227742-118228634	SK-N-SH	brain:	n/a	chr6:118228288-118228304
20	CTCF	chr6:118228190-118228403	GM20000	blood:	n/a	chr6:118228288-118228304
21	CTCF	chr6:118228017-118228433	H1-hESC	embryonic stem cell:	n/a	chr6:118228288-118228304
22	CTCF	chr6:118228175-118228406	GM10248	blood:	n/a	chr6:118228288-118228304
23	CTCF	chr6:118228105-118228454	A549	lung:	n/a	chr6:118228288-118228304
24	CTCF	chr6:118228192-118228374	GM13976	blood:	n/a	chr6:118228288-118228304
25	CTCF	chr6:118228133-118228409	MCF-7	breast:	n/a	chr6:118228288-118228304
26	CTCF	chr6:118228166-118228391	Kidney_OC	kidney:	n/a	chr6:118228288-118228304
27	CTCF	chr6:118228170-118228387	Fibrobl	skin:	n/a	chr6:118228288-118228304
28	CTCF	chr6:118228154-118228417	H1-hESC	embryonic stem cell:	n/a	chr6:118228288-118228304
29	CTCF	chr6:118228152-118228394	Medullo	brain:	n/a	chr6:118228288-118228304
30	CTCF	chr6:118228015-118228435	HepG2	liver:	n/a	chr6:118228288-118228304
31	CTCF	chr6:118227969-118228593	A549	lung:	n/a	chr6:118228288-118228304
32	CTCF	chr6:118228178-118228380	SK-N-SH_RA	brain:	n/a	chr6:118228288-118228304
33	CTCF	chr6:118228092-118228472	GM12878	blood:	n/a	chr6:118228288-118228304
34	CTCF	chr6:118228189-118228405	LNCaP	prostate:	n/a	chr6:118228288-118228304
35	CTCF	chr6:118228149-118228392	GM12878	blood:	n/a	chr6:118228288-118228304
36	CTCF	chr6:118228187-118228393	Pancreas_OC	pancreas:	n/a	chr6:118228288-118228304
37	CTCF	chr6:118228144-118228437	GM12892	blood:	n/a	chr6:118228288-118228304
38	CTCF	chr6:118228038-118228451	H1-hESC	embryonic stem cell:	n/a	chr6:118228288-118228304
39	CTCF	chr6:118228154-118228417	Gliobla	brain:	n/a	chr6:118228288-118228304
40	CTCF	chr6:118228001-118228465	GM19240	blood:	n/a	chr6:118228288-118228304
41	CTCF	chr6:118228240-118228390	HepG2	liver:	n/a	chr6:118228288-118228304
42	CTCF	chr6:118228116-118228397	K562	blood:	n/a	chr6:118228288-118228304
43	CTCF	chr6:118228133-118228412	GM19239	blood:	n/a	chr6:118228288-118228304
44	CTCF	chr6:118228155-118228427	GM10266	blood:	n/a	chr6:118228288-118228304
45	EP300	chr6:118227949-118228601	SK-N-SH	brain:	n/a	chr6:118228560-118228576 chr6:118228088-118228104
46	EP300	chr6:118227944-118228793	ECC-1	luminal epithelium:	n/a	chr6:118228720-118228729 chr6:118228560-118228576 chr6:118228696-118228709 chr6:118228088-118228104
47	EP300	chr6:118227918-118228650	H1-hESC	embryonic stem cell:	n/a	chr6:118228560-118228576 chr6:118228088-118228104
48	GTF2F1	chr6:118227896-118228460	H1-hESC	embryonic stem cell:	n/a	n/a
49	HMGN3	chr6:118228012-118228431	K562	blood:	n/a	n/a
50	MAX	chr6:118228068-118229176	HepG2	liver:	n/a	chr6:118228320-118228330

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:118161401..118162100-chr6:118227994..118228639,2	MCF-7	breast:

Variant related genes	Relation type
SLC35F1	TF binding region

Extended variants
information (count: 1 )
Associated
traits (count: 109 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71012374	chr6:118228372-118228373	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:109)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	20067559	CNVD
T-cell lymphomas	19863542	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
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	19242612	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
Acute lymphoblastic leukemia	21098271	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Salivary gland tumor	18059337	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:118227400-118230200	Active TSS	Brain Angular Gyrus	brain
2	chr6:118227400-118230400	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr6:118227600-118228800	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr6:118227600-118228800	Active TSS	Stomach Smooth Muscle	stomach
5	chr6:118227600-118229000	Bivalent Enhancer	Liver	Liver
6	chr6:118227600-118229000	Active TSS	Brain Germinal Matrix	brain
7	chr6:118227600-118229400	Active TSS	Fetal Brain Female	brain
8	chr6:118227600-118229600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
9	chr6:118227600-118230000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
10	chr6:118227600-118230000	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr6:118227800-118228600	Active TSS	Psoas Muscle	Psoas
12	chr6:118227800-118228600	Bivalent/Poised TSS	Right Ventricle	heart
13	chr6:118227800-118228600	Bivalent/Poised TSS	HUVEC	blood vessel
14	chr6:118227800-118228800	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr6:118227800-118228800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr6:118227800-118228800	Active TSS	Right Atrium	heart
17	chr6:118227800-118229000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr6:118227800-118229200	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr6:118227800-118229200	Active TSS	Left Ventricle	heart
20	chr6:118227800-118229400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
21	chr6:118227800-118229400	Active TSS	Rectal Smooth Muscle	rectum
22	chr6:118227800-118229600	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr6:118227800-118229600	Bivalent/Poised TSS	A549	lung
24	chr6:118227800-118229800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr6:118227800-118229800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr6:118227800-118230000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr6:118227800-118230200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr6:118227800-118230400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr6:118227800-118230400	Active TSS	Brain Cingulate Gyrus	brain
30	chr6:118227800-118230400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
31	chr6:118228000-118228400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
32	chr6:118228000-118228400	Active TSS	Primary hematopoietic stem cells	blood
33	chr6:118228000-118228400	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr6:118228000-118228400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr6:118228000-118228400	Bivalent/Poised TSS	Ovary	ovary
36	chr6:118228000-118228400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
37	chr6:118228000-118228400	Flanking Bivalent TSS/Enh	Thymus	Thymus
38	chr6:118228000-118228600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
39	chr6:118228000-118228600	Active TSS	Colonic Mucosa	Colon
40	chr6:118228000-118228600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
41	chr6:118228000-118228600	Active TSS	Fetal Lung	lung
42	chr6:118228000-118228800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr6:118228000-118228800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr6:118228000-118229000	Bivalent/Poised TSS	HSMMtube	muscle
45	chr6:118228000-118229000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
46	chr6:118228000-118229200	Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr6:118228000-118229200	Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr6:118228000-118229200	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
49	chr6:118228000-118229200	Active TSS	Pancreas	Pancrea
50	chr6:118228000-118229200	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle

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