Variant report

Variant	esv1962875
Chromosome Location	chr6:76311018-76311019
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	CUX1	chr6:76310766-76311370	GM12878	blood:	n/a	n/a
2	E2F4	chr6:76310934-76311836	MCF10A-Er-Src	breast:	n/a	chr6:76311435-76311444 chr6:76311733-76311743 chr6:76311730-76311740
3	HCFC1	chr6:76310925-76313089	Hela-S3	cervix:	n/a	n/a
4	IRF1	chr6:76310744-76312417	K562	blood:	n/a	chr6:76310854-76310868 chr6:76311856-76311876 chr6:76310855-76310868 chr6:76310855-76310868 chr6:76310853-76310867
5	JUND	chr6:76310983-76312543	K562	blood:	n/a	n/a
6	MXI1	chr6:76310463-76313759	SK-N-SH	brain:	n/a	n/a
7	MYC	chr6:76311010-76312798	MCF10A-Er-Src	breast:	n/a	chr6:76311659-76311669
8	PML	chr6:76310950-76312731	GM12878	blood:	n/a	chr6:76311944-76311952
9	POLR2A	chr6:76311013-76313050	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr6:76310802-76312829	GM19099	blood:	n/a	n/a
11	POLR2A	chr6:76310608-76313367	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr6:76310760-76312800	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr6:76310389-76312884	Raji	blood:	n/a	n/a
14	POLR2A	chr6:76310541-76313675	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr6:76310552-76313108	GM12891	blood:	n/a	n/a
16	POLR2A	chr6:76310972-76312561	PFSK-1	brain:	n/a	n/a
17	REST	chr6:76310375-76313045	H1-neurons	neurons:	n/a	chr6:76311494-76311512 chr6:76311501-76311511
18	TBP	chr6:76310478-76311937	Hela-S3	cervix:	n/a	n/a
19	TBP	chr6:76310660-76311967	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:75993142..75995708-chr6:76310246..76313188,4	K562	blood:
2	chr6:74228897..74233348-chr6:76310739..76313863,5	K562	blood:
3	chr6:76310925..76313590-chr6:76457201..76459634,2	K562	blood:
4	chr6:76300158..76302964-chr6:76309745..76311544,2	K562	blood:
5	chr6:76301594..76304347-chr6:76310698..76312348,3	MCF-7	breast:
6	chr6:76310839..76313480-chr6:76354672..76356986,2	MCF-7	breast:
7	chr1:149223806..149225375-chr6:76310132..76311971,2	MCF-7	breast:
8	chr6:75953153..75955682-chr6:76309116..76311798,2	K562	blood:
9	chr6:75993176..75995308-chr6:76310710..76312367,2	MCF-7	breast:
10	chr6:74229402..74231607-chr6:76310929..76313785,2	K562	blood:
11	chr19:1247352..1249824-chr6:76310629..76312777,2	MCF-7	breast:
12	chr6:76310342..76312305-chr6:76373129..76377244,3	K562	blood:
13	chr6:76310717..76312305-chr6:76374454..76377244,2	K562	blood:

Variant related genes	Relation type
SENP6	TF binding region
ENSG00000112701	chromatin interactions
ENSG00000112697	chromatin interactions
ENSG00000112695	chromatin interactions
ENSG00000167470	chromatin interactions
ENSG00000229862	chromatin interactions
ENSG00000206737	chromatin interactions
ENSG00000225793	chromatin interactions
ENSG00000252137	chromatin interactions
ENSG00000196586	chromatin interactions
ENSG00000156508	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 97 )

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	rs35436655	chr6:76311018-76311019	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Endometrioid adenocarcinoma	16974079	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	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
Prostate cancer	16573809	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	CNVD
Chronic lymphocytic leukemia	21546498	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Salivary gland tumor	18059337	CNVD
Lung cancer	16773561	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial cell carcinoma	18451213	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:76309000-76311200	Weak transcription	Colonic Mucosa	Colon
2	chr6:76309000-76311200	Weak transcription	Ovary	ovary
3	chr6:76309000-76311400	Weak transcription	Spleen	Spleen
4	chr6:76310400-76311200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
5	chr6:76310400-76311200	Enhancers	Brain Substantia Nigra	brain
6	chr6:76310400-76311200	Flanking Active TSS	Fetal Lung	lung
7	chr6:76310400-76311200	Flanking Active TSS	Hela-S3	cervix
8	chr6:76310400-76311400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr6:76310400-76314000	Active TSS	Brain Germinal Matrix	brain
10	chr6:76310400-76314400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:76310600-76311200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr6:76310600-76311200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
13	chr6:76310600-76311200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:76310600-76311200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr6:76310600-76311200	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr6:76310600-76311400	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr6:76310600-76311400	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr6:76310600-76311400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
19	chr6:76310600-76311400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr6:76310600-76311400	Flanking Active TSS	Duodenum Mucosa	Duodenum
21	chr6:76310600-76311400	Flanking Active TSS	HUVEC	blood vessel
22	chr6:76310600-76311400	Flanking Active TSS	NH-A	brain
23	chr6:76310600-76311600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr6:76310600-76313400	Active TSS	Brain Cingulate Gyrus	brain
25	chr6:76310600-76313800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr6:76310600-76313800	Active TSS	Psoas Muscle	Psoas
27	chr6:76310600-76314000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr6:76310600-76314200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr6:76310600-76314200	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr6:76310800-76311200	Flanking Active TSS	Primary B cells from peripheral blood	blood
31	chr6:76310800-76311200	Flanking Active TSS	Primary T cells from cord blood	blood
32	chr6:76310800-76311200	Enhancers	Fetal Heart	heart
33	chr6:76310800-76311200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
34	chr6:76310800-76311200	Active TSS	Right Atrium	heart
35	chr6:76310800-76311400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr6:76310800-76312400	Active TSS	Primary T cells fromperipheralblood	blood
37	chr6:76310800-76312400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
38	chr6:76310800-76312600	Active TSS	Thymus	Thymus
39	chr6:76310800-76313200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr6:76310800-76313200	Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr6:76310800-76313400	Active TSS	Fetal Thymus	thymus
42	chr6:76310800-76313400	Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr6:76310800-76313600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr6:76310800-76313600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr6:76310800-76313600	Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr6:76310800-76313600	Active TSS	Primary T killer memory cells from peripheral blood	blood
47	chr6:76310800-76313600	Active TSS	Colon Smooth Muscle	Colon
48	chr6:76310800-76313600	Active TSS	Rectal Smooth Muscle	rectum
49	chr6:76310800-76313800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr6:76310800-76314000	Active TSS	H1 Cell Line	embryonic stem cell

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