Variant report

Variant	nsv516774
Chromosome Location	chr10:50014328-50014816
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:50013766..50016503-chr10:50352628..50354357,2	MCF-7	breast:
2	chr10:50012510..50015290-chr10:50020965..50023375,3	MCF-7	breast:
3	chr10:50011032..50014812-chr10:50025927..50027937,3	K562	blood:
4	chr10:50012503..50014685-chr10:50027009..50029930,2	MCF-7	breast:
5	chr10:50011096..50015039-chr10:50015649..50020097,7	MCF-7	breast:
6	chr10:50010501..50012813-chr10:50013892..50016790,2	K562	blood:

Variant related genes	Relation type
ENSG00000128815	chromatin interactions

Extended variants
information (count: 21 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1871612	chr10:50014328-50014329	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs374260463	chr10:50014346-50014347	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs574739902	chr10:50014360-50014361	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs185108750	chr10:50014372-50014373	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs560160908	chr10:50014409-50014410	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs145100924	chr10:50014420-50014421	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs190748850	chr10:50014430-50014431	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs114604830	chr10:50014432-50014433	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs73310039	chr10:50014441-50014442	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs551106038	chr10:50014471-50014472	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs569116622	chr10:50014494-50014495	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs536512612	chr10:50014514-50014515	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs571554906	chr10:50014550-50014551	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs147582423	chr10:50014608-50014609	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs534233969	chr10:50014643-50014644	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs141991959	chr10:50014661-50014662	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs577317568	chr10:50014672-50014673	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs569773090	chr10:50014694-50014695	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs184121841	chr10:50014810-50014811	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs556286101	chr10:50014814-50014815	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs2448541	chr10:50014816-50014817	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	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:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50005200-50026800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr10:50007200-50014600	Weak transcription	NHLF	lung
3	chr10:50007200-50017200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr10:50008200-50015000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr10:50009200-50015200	Genic enhancers	Primary B cells from cord blood	blood
6	chr10:50009600-50014800	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr10:50009600-50028000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr10:50010800-50014800	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr10:50010800-50016000	Enhancers	Fetal Thymus	thymus
10	chr10:50011000-50014600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr10:50011200-50014800	Enhancers	Brain Germinal Matrix	brain
12	chr10:50011200-50015400	Enhancers	Fetal Muscle Leg	muscle
13	chr10:50011200-50016600	Genic enhancers	Primary neutrophils fromperipheralblood	blood
14	chr10:50011400-50016200	Genic enhancers	Primary monocytes fromperipheralblood	blood
15	chr10:50011600-50016200	Genic enhancers	Monocytes-CD14+_RO01746	blood
16	chr10:50011600-50017000	Enhancers	Fetal Stomach	stomach
17	chr10:50011800-50014600	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr10:50012000-50014800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr10:50012000-50014800	Enhancers	Fetal Lung	lung
20	chr10:50012200-50014600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr10:50012400-50014600	Flanking Active TSS	Primary T cells from cord blood	blood
22	chr10:50012400-50014600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr10:50012600-50014600	Enhancers	Fetal Intestine Large	intestine
24	chr10:50012600-50014600	Enhancers	Left Ventricle	heart
25	chr10:50012600-50015000	Enhancers	Fetal Muscle Trunk	muscle
26	chr10:50012800-50014400	Enhancers	Fetal Heart	heart
27	chr10:50012800-50014600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr10:50012800-50014800	Enhancers	Brain Angular Gyrus	brain
29	chr10:50012800-50016600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr10:50012800-50016800	Enhancers	NHEK	skin
31	chr10:50013000-50014600	Enhancers	Fetal Brain Female	brain
32	chr10:50013000-50014600	Enhancers	Fetal Intestine Small	intestine
33	chr10:50013000-50014800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
34	chr10:50013000-50014800	Enhancers	Lung	lung
35	chr10:50013000-50014800	Genic enhancers	Spleen	Spleen
36	chr10:50013000-50015000	Enhancers	Brain Anterior Caudate	brain
37	chr10:50013000-50016600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr10:50013200-50014600	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr10:50013200-50014600	Genic enhancers	Thymus	Thymus
40	chr10:50013200-50023800	Strong transcription	GM12878-XiMat	blood
41	chr10:50013400-50014800	Enhancers	H1 Cell Line	embryonic stem cell
42	chr10:50013400-50014800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr10:50013400-50014800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr10:50013400-50014800	Enhancers	Dnd41	blood
45	chr10:50013600-50014600	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr10:50013600-50014800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr10:50013600-50028200	Strong transcription	Primary B cells from peripheral blood	blood
48	chr10:50013600-50061000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr10:50013800-50014600	Genic enhancers	Primary hematopoietic stem cells	blood
50	chr10:50013800-50014600	Flanking Active TSS	Adipose Nuclei	Adipose

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