Variant report

Variant	esv1688435
Chromosome Location	chr10:118766096-118766097
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	CBX3	chr10:118766020-118767106	HCT-116	colon:	n/a	n/a
2	CCNT2	chr10:118766082-118766357	K562	blood:	n/a	n/a
3	FOSL1	chr10:118766077-118767122	HCT-116	colon:	n/a	chr10:118766748-118766759 chr10:118766750-118766758 chr10:118766759-118766769 chr10:118766760-118766768 chr10:118766749-118766759 chr10:118766748-118766760 chr10:118766761-118766772 chr10:118766751-118766758 chr10:118766749-118766758 chr10:118766480-118766487 chr10:118766758-118766770 chr10:118766750-118766759
4	FOSL1	chr10:118766016-118767292	HCT-116	colon:	n/a	chr10:118766748-118766759 chr10:118766750-118766758 chr10:118766759-118766769 chr10:118766760-118766768 chr10:118766749-118766759 chr10:118766748-118766760 chr10:118766761-118766772 chr10:118766751-118766758 chr10:118766749-118766758 chr10:118766480-118766487 chr10:118766758-118766770 chr10:118766750-118766759
5	JUN	chr10:118766081-118767108	K562	blood:	n/a	chr10:118766750-118766758 chr10:118766759-118766769 chr10:118766760-118766768 chr10:118766749-118766759 chr10:118766748-118766760 chr10:118766761-118766772 chr10:118766751-118766758 chr10:118766749-118766758 chr10:118766480-118766487 chr10:118766758-118766770 chr10:118766750-118766759
6	JUND	chr10:118766051-118767149	HCT-116	colon:	n/a	chr10:118766750-118766758 chr10:118766759-118766769 chr10:118766760-118766768 chr10:118766749-118766759 chr10:118766748-118766759 chr10:118766748-118766760 chr10:118766761-118766772 chr10:118766751-118766758 chr10:118766749-118766758 chr10:118766480-118766487 chr10:118766758-118766770 chr10:118766750-118766759
7	JUND	chr10:118766000-118767155	HCT-116	colon:	n/a	chr10:118766750-118766758 chr10:118766759-118766769 chr10:118766760-118766768 chr10:118766749-118766759 chr10:118766748-118766759 chr10:118766748-118766760 chr10:118766761-118766772 chr10:118766751-118766758 chr10:118766749-118766758 chr10:118766480-118766487 chr10:118766758-118766770 chr10:118766750-118766759
8	POLR2A	chr10:118766034-118766389	K562	blood:	n/a	n/a
9	POLR2A	chr10:118765942-118766377	K562	blood:	n/a	n/a
10	SP1	chr10:118765991-118767161	HCT-116	colon:	n/a	n/a
11	SP1	chr10:118765984-118767031	HCT-116	colon:	n/a	n/a
12	SRF	chr10:118766028-118767102	HCT-116	colon:	n/a	n/a
13	ZNF384	chr10:118765935-118767164	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:118718724..118721628-chr10:118764683..118766816,3	MCF-7	breast:
2	chr10:118765114..118768175-chr10:118770999..118774519,3	K562	blood:
3	chr10:118763331..118765453-chr10:118765627..118768169,2	MCF-7	breast:

Variant related genes	Relation type
KIAA1598	TF binding region
ENSG00000187164	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 68 )

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	rs533216568	chr10:118766097-118766098	Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Paraganglioma	17535989	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cornelia de Lange syndrome	24599119	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	16397240	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic lymphocytic leukemia	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hepatocellular carcinoma	16750200	CNVD
Barrett''s syndrome	19417022	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neuroticism	17667963	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Sezary syndrome	18413736	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:118763400-118766200	Active TSS	A549	lung
2	chr10:118763600-118766200	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr10:118765400-118766200	Weak transcription	NHDF-Ad	bronchial
4	chr10:118765400-118766800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr10:118765600-118766200	Enhancers	Brain Hippocampus Middle	brain
6	chr10:118765600-118766200	Enhancers	Fetal Brain Male	brain
7	chr10:118765600-118766200	Active TSS	Hela-S3	cervix
8	chr10:118765600-118766200	Active TSS	K562	blood
9	chr10:118765600-118766400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr10:118765600-118766400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr10:118765600-118766400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr10:118765600-118766400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr10:118765600-118766400	Enhancers	Liver	Liver
14	chr10:118765600-118766400	Enhancers	Brain Cingulate Gyrus	brain
15	chr10:118765600-118766400	Active TSS	Brain Germinal Matrix	brain
16	chr10:118765600-118766400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr10:118765600-118766400	Enhancers	NH-A	brain
18	chr10:118765600-118766600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr10:118765600-118766600	Weak transcription	Stomach Mucosa	stomach
20	chr10:118765600-118766800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr10:118765600-118766800	Enhancers	HUVEC	blood vessel
22	chr10:118765600-118767000	Enhancers	Brain Substantia Nigra	brain
23	chr10:118765600-118767200	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr10:118765800-118766200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr10:118765800-118766400	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr10:118765800-118766800	Enhancers	HepG2	liver
27	chr10:118766000-118766600	Enhancers	HMEC	breast

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