Variant report

Variant	nsv947978
Chromosome Location	chr10:50638976-50649418
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:7)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:50648888..50650860-chr10:50652961..50655311,2	K562	blood:
2	chr10:50635267..50636982-chr10:50640291..50641806,2	K562	blood:
3	chr10:50641718..50643509-chr10:50649347..50652073,2	MCF-7	breast:
4	chr10:50634343..50637099-chr10:50638662..50640604,2	K562	blood:
5	chr10:50648534..50651045-chr10:50651718..50653272,2	MCF-7	breast:
6	chr10:50641718..50643509-chr10:50649347..50652073,2	MCF-7	breast:
7	chr10:50634883..50637223-chr10:50637702..50640162,3	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C10orf71-3	chr10:50639184-50639919	NONHSAT013305
2	lnc-ERCC6-1	chr10:50641879-50655452	NONHSAT013306

No data

Extended variants
information (count: 367 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:367 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530565565	chr10:50639014-50639015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs548940529	chr10:50639019-50639020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560753628	chr10:50639031-50639032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528102430	chr10:50639075-50639076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs79358151	chr10:50639103-50639104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569100832	chr10:50639110-50639111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547656856	chr10:50639309-50639310	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs566035279	chr10:50639326-50639327	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs180799315	chr10:50639328-50639329	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs551598862	chr10:50639489-50639490	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs370562738	chr10:50639519-50639520	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs184299807	chr10:50639523-50639524	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs555718376	chr10:50639524-50639525	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs533471698	chr10:50639556-50639557	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs573918203	chr10:50639557-50639558	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs535042075	chr10:50639570-50639571	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs189255167	chr10:50639573-50639574	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs7923874	chr10:50639616-50639617	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs560323486	chr10:50639628-50639629	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs11812473	chr10:50639717-50639718	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs182201482	chr10:50639721-50639722	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs186295097	chr10:50639736-50639737	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs148958369	chr10:50639738-50639739	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs1924493	chr10:50639798-50639799	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs573167356	chr10:50639826-50639827	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs528027681	chr10:50639857-50639858	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs1924492	chr10:50639860-50639861	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs559608717	chr10:50639867-50639868	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs190459568	chr10:50640015-50640016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551539132	chr10:50640028-50640029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570189640	chr10:50640036-50640037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35936311	chr10:50640119-50640120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181711208	chr10:50640181-50640182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549181728	chr10:50640194-50640195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567755996	chr10:50640200-50640201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs77866929	chr10:50640218-50640219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553446527	chr10:50640252-50640253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10857493	chr10:50640272-50640273	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
39	rs571465032	chr10:50640328-50640329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185381085	chr10:50640337-50640338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576418717	chr10:50640389-50640390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373093359	chr10:50640399-50640400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542809873	chr10:50640447-50640448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191564914	chr10:50640453-50640454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572640579	chr10:50640476-50640477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs117605714	chr10:50640486-50640487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564567769	chr10:50640542-50640543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533430976	chr10:50640544-50640545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs370920944	chr10:50640545-50640546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs143693691	chr10:50640571-50640572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
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
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
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Metanephric adenoma	20802469	CNVD
Hypotonia	21948486	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50635800-50649800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr10:50638400-50665800	Weak transcription	Gastric	stomach
3	chr10:50638800-50639000	ZNF genes & repeats	Aorta	Aorta
4	chr10:50639000-50651800	Weak transcription	Aorta	Aorta
5	chr10:50643200-50647000	Weak transcription	Esophagus	oesophagus
6	chr10:50645000-50645200	Enhancers	Left Ventricle	heart
7	chr10:50645000-50650000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr10:50645800-50655200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr10:50646800-50647200	Enhancers	Liver	Liver
10	chr10:50647000-50647200	Enhancers	Esophagus	oesophagus
11	chr10:50647200-50649600	Weak transcription	Esophagus	oesophagus
12	chr10:50647200-50650200	Weak transcription	Liver	Liver
13	chr10:50647400-50649600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr10:50647400-50649600	Weak transcription	Stomach Smooth Muscle	stomach
15	chr10:50647600-50648800	Weak transcription	Thymus	Thymus
16	chr10:50648000-50662200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr10:50648000-50662200	Weak transcription	Left Ventricle	heart
18	chr10:50648400-50662200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr10:50648600-50649400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr10:50648800-50649000	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr10:50648800-50649400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr10:50648800-50649600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr10:50648800-50649600	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr10:50648800-50649600	Enhancers	Thymus	Thymus
25	chr10:50648800-50650600	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr10:50649000-50649200	Enhancers	Primary T cells from cord blood	blood
27	chr10:50649000-50649600	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr10:50649000-50652400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr10:50649200-50649400	Enhancers	Primary hematopoietic stem cells	blood
30	chr10:50649200-50649400	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr10:50649200-50649400	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr10:50649200-50649400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
33	chr10:50649200-50649600	Flanking Active TSS	Primary T cells from cord blood	blood
34	chr10:50649400-50649600	Flanking Active TSS	Primary hematopoietic stem cells	blood
35	chr10:50649400-50649600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr10:50649400-50649600	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
37	chr10:50649400-50649800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
38	chr10:50649400-50649800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
39	chr10:50649400-50649800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
40	chr10:50649400-50649800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr10:50649400-50650000	Enhancers	Fetal Thymus	thymus
42	chr10:50649400-50650200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
43	chr10:50649400-50650400	Enhancers	Placenta	Placenta

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