Variant report

Variant	nsv825350
Chromosome Location	chr10:43592969-43593651
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:3)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:43571954..43575948-chr10:43588456..43593172,4	MCF-7	breast:
2	chr10:43588758..43591392-chr10:43592644..43594640,2	MCF-7	breast:
3	chr10:43522095..43524147-chr10:43592185..43594122,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RASGEF1A-3	chr10:43593016-43593304	NONHSAT012942
2	lnc-RASGEF1A-3	chr10:43593016-43593304	NONHSAT012941
3	lnc-RASGEF1A-3	chr10:43593022-43593304	l_302_chr10:43593021-43594323_testes

No data

Variant related genes	Relation type
ENSG00000165731	chromatin interactions

Extended variants
information (count: 27 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570390402	chr10:43592984-43592985	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs377625969	chr10:43593011-43593012	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs548438191	chr10:43593027-43593028	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs2505535	chr10:43593043-43593044	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs138995070	chr10:43593053-43593054	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs558575511	chr10:43593112-43593113	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs559208843	chr10:43593146-43593147	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs141575017	chr10:43593169-43593170	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs537895953	chr10:43593234-43593235	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs2435348	chr10:43593256-43593257	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs554412287	chr10:43593264-43593265	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs574361099	chr10:43593267-43593268	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs541906389	chr10:43593278-43593279	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs372839942	chr10:43593302-43593303	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs370782171	chr10:43593349-43593350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560180608	chr10:43593377-43593378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73252028	chr10:43593386-43593387	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs190517375	chr10:43593391-43593392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564667600	chr10:43593398-43593399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543081966	chr10:43593433-43593434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563573460	chr10:43593440-43593441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs146181920	chr10:43593470-43593471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550332654	chr10:43593508-43593509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562451446	chr10:43593514-43593515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529678412	chr10:43593556-43593557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576745031	chr10:43593581-43593582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182178914	chr10:43593633-43593634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Lung cancer	18438408	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
Mental retardation	21062444	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	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
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43581000-43593000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr10:43588400-43599400	Weak transcription	Pancreas	Pancrea
3	chr10:43589400-43596800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr10:43590600-43597600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr10:43591600-43599400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr10:43593000-43593200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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