Variant report

Variant	esv2617032
Chromosome Location	chr10:22919269-22919285
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr10:22917566..22920351-chr10:22991227..22993855,2	K562	blood:
2	chr10:22915419..22921147-chr10:22965660..22970538,6	K562	blood:
3	chr10:22918230..22923281-chr10:22970702..22974726,7	K562	blood:
4	chr10:22918935..22920512-chr10:22949554..22952009,2	K562	blood:
5	chr10:22912929..22915969-chr10:22917754..22921150,3	MCF-7	breast:
6	chr10:22918306..22922347-chr10:23342805..23345758,6	K562	blood:
7	chr10:22917308..22919360-chr10:22991473..22993038,2	K562	blood:
8	chr10:22916861..22924296-chr10:22924379..22934526,17	K562	blood:
9	chr10:22918472..22921530-chr10:22924076..22926410,3	K562	blood:
10	chr10:22918237..22921332-chr10:22927250..22929087,3	K562	blood:
11	chr10:22919228..22920825-chr10:22969587..22972202,2	K562	blood:
12	chr10:22918203..22920244-chr10:23002055..23005386,3	K562	blood:
13	chr10:22918208..22920899-chr10:23105511..23107568,2	K562	blood:
14	chr10:22608686..22610938-chr10:22918301..22921257,2	K562	blood:
15	chr10:22917275..22920741-chr10:22954004..22956837,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000168283	chromatin interactions
ENSG00000150867	chromatin interactions

Extended variants
information (count: 3 )
Associated
traits (count: 39 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147824213	chr10:22919269-22919270	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs372333693	chr10:22919273-22919274	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs10508650	chr10:22919275-22919276	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:39)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Glioblastoma multiforme	22286061	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:22902400-22921600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr10:22903800-22922000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr10:22905200-22919400	Enhancers	NHDF-Ad	bronchial
4	chr10:22907600-22922400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr10:22909800-22930400	Weak transcription	Fetal Stomach	stomach
6	chr10:22911400-22921400	Enhancers	Brain Hippocampus Middle	brain
7	chr10:22911600-22920200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr10:22912600-22921000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr10:22912800-22921400	Weak transcription	Esophagus	oesophagus
10	chr10:22912800-22925600	Weak transcription	Pancreas	Pancrea
11	chr10:22912800-22929200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr10:22913800-22919400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr10:22914200-22920200	Enhancers	Brain Anterior Caudate	brain
14	chr10:22914400-22920000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr10:22915000-22919800	Weak transcription	Ovary	ovary
16	chr10:22915000-22921400	Weak transcription	Right Ventricle	heart
17	chr10:22915000-22926200	Weak transcription	Fetal Heart	heart
18	chr10:22915000-22951800	Weak transcription	Fetal Intestine Small	intestine
19	chr10:22915200-22919400	Weak transcription	Fetal Lung	lung
20	chr10:22915200-22919800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr10:22915200-22920200	Weak transcription	Left Ventricle	heart
22	chr10:22915200-22924000	Weak transcription	Fetal Muscle Leg	muscle
23	chr10:22915200-22926600	Weak transcription	Fetal Muscle Trunk	muscle
24	chr10:22915200-22935600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr10:22915200-22936200	Weak transcription	Psoas Muscle	Psoas
26	chr10:22915400-22920400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr10:22915400-22935400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr10:22915600-22919400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr10:22915600-22920200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr10:22916000-22925000	Enhancers	Brain Cingulate Gyrus	brain
31	chr10:22916400-22919800	Weak transcription	HSMMtube	muscle
32	chr10:22916800-22919400	Weak transcription	HMEC	breast
33	chr10:22916800-22919600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr10:22916800-22920800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr10:22917400-22919400	Flanking Active TSS	GM12878-XiMat	blood
36	chr10:22917400-22920600	Weak transcription	Liver	Liver
37	chr10:22917400-22920800	Enhancers	Brain Angular Gyrus	brain
38	chr10:22917400-22928200	Enhancers	Brain Substantia Nigra	brain
39	chr10:22917800-22919400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
40	chr10:22917800-22919400	Weak transcription	Stomach Mucosa	stomach
41	chr10:22917800-22919600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr10:22917800-22919800	Enhancers	Muscle Satellite Cultured Cells	--
43	chr10:22917800-22920400	Enhancers	Primary hematopoietic stem cells	blood
44	chr10:22918000-22919400	Enhancers	Primary B cells from cord blood	blood
45	chr10:22918000-22919400	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr10:22918000-22919800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr10:22918000-22919800	Weak transcription	Aorta	Aorta
48	chr10:22918000-22920000	Weak transcription	Thymus	Thymus
49	chr10:22918200-22919400	Enhancers	Dnd41	blood
50	chr10:22918200-22919400	Weak transcription	HSMM	muscle

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