Variant report

Variant	esv3387538
Chromosome Location	chr10:50002236-50002677
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:50001268..50003610-chr10:50006671..50009349,2	MCF-7	breast:
2	chr10:50000720..50003091-chr10:50019887..50021986,2	MCF-7	breast:
3	chr10:49998728..50000670-chr10:50000841..50003073,2	K562	blood:
4	chr10:50001590..50003527-chr10:50010221..50013133,2	MCF-7	breast:
5	chr10:49998728..50000919-chr10:50001573..50004326,2	K562	blood:
6	chr10:49995916..49998699-chr10:49999856..50002398,4	K562	blood:
7	chr10:49986976..49988548-chr10:50000055..50002559,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000128815	chromatin interactions

Extended variants
information (count: 22 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557544263	chr10:50002256-50002257	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs575920563	chr10:50002271-50002272	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs79669560	chr10:50002280-50002281	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs182861095	chr10:50002294-50002295	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs536393030	chr10:50002369-50002370	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs540306586	chr10:50002383-50002384	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs114780644	chr10:50002400-50002401	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs137928070	chr10:50002401-50002402	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs10857646	chr10:50002413-50002414	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs186128080	chr10:50002416-50002417	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs377043987	chr10:50002417-50002418	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs529862134	chr10:50002418-50002419	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs548436639	chr10:50002433-50002434	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs11101488	chr10:50002445-50002446	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs533773232	chr10:50002450-50002451	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs551933903	chr10:50002468-50002469	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs190107869	chr10:50002484-50002485	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs537900724	chr10:50002526-50002527	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs142394005	chr10:50002553-50002554	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs575880709	chr10:50002554-50002555	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs2928401	chr10:50002557-50002558	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs555231883	chr10:50002662-50002663	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
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
Thoracic aortic aneurysm	21092924	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
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	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
Chronic lymphocytic leukemia	21546498	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	21785460	CNVD
Intellectual disability	21948486	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Rett syndrome	21593744	CNVD
Glioblastoma multiforme	22286061	CNVD
Neuroblastoma	21899760	CNVD
Intellectual disability	22045946	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Autism	21948486	CNVD
cleft palate	21948486	CNVD
Encephalopathy	21948486	CNVD
Lung cancer	18438408	CNVD
T-cell primary immunodeficiency	21948486	CNVD
Autism	22543975	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
skeletal anomalies	21948486	CNVD
speech delay	21948486	CNVD
Colorectal cancer	16272173	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49967800-50006800	Strong transcription	Primary B cells from peripheral blood	blood
2	chr10:49981400-50007200	Strong transcription	Primary B cells from cord blood	blood
3	chr10:49982600-50006800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr10:49992800-50005200	Strong transcription	Primary hematopoietic stem cells	blood
5	chr10:49993800-50005600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr10:49996600-50005400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr10:49999200-50005600	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr10:49999200-50006200	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr10:49999400-50003400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr10:49999600-50003000	Enhancers	Left Ventricle	heart
11	chr10:49999800-50003000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr10:49999800-50003200	Enhancers	HMEC	breast
13	chr10:50000000-50003000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr10:50000000-50003200	Enhancers	NHEK	skin
15	chr10:50000000-50008400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr10:50000400-50008400	Weak transcription	Colonic Mucosa	Colon
17	chr10:50001000-50003800	Weak transcription	Lung	lung
18	chr10:50001000-50008200	Weak transcription	Fetal Thymus	thymus
19	chr10:50001000-50012800	Weak transcription	Right Ventricle	heart
20	chr10:50001200-50005600	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr10:50001200-50009400	Weak transcription	Fetal Muscle Leg	muscle
22	chr10:50001400-50007600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr10:50001600-50008200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr10:50002200-50002400	Enhancers	Esophagus	oesophagus
25	chr10:50002200-50002400	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr10:50002200-50003000	Genic enhancers	Spleen	Spleen
27	chr10:50002200-50003800	Weak transcription	GM12878-XiMat	blood
28	chr10:50002600-50008400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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