Variant report

Variant	nsv947609
Chromosome Location	chr10:44812559-44813567
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:44807407..44809673-chr10:44812820..44814323,2	K562	blood:
2	chr10:44811973..44813538-chr10:44814661..44817151,2	K562	blood:
3	chr10:44810814..44813598-chr10:44820060..44822931,2	MCF-7	breast:
4	chr10:44804505..44808299-chr10:44810084..44813443,4	MCF-7	breast:
5	chr10:44811931..44814471-chr10:44815222..44820050,4	MCF-7	breast:
6	chr10:44811932..44813553-chr10:44827635..44830396,2	K562	blood:
7	chr10:44803835..44808039-chr10:44810425..44813828,4	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117927240	chr10:44812564-44812565	Flanking Active TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs373978421	chr10:44812587-44812588	Flanking Active TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192777865	chr10:44812591-44812592	Flanking Active TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547684492	chr10:44812644-44812645	Flanking Active TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577394558	chr10:44812648-44812649	Flanking Active TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544561769	chr10:44812651-44812652	Flanking Active TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143945057	chr10:44812661-44812662	Flanking Active TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs117415871	chr10:44812734-44812735	Flanking Active TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574486636	chr10:44812764-44812765	Flanking Active TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541783573	chr10:44812766-44812767	Flanking Active TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141134166	chr10:44812835-44812836	Flanking Active TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182587975	chr10:44812841-44812842	Flanking Active TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187669398	chr10:44812846-44812847	Flanking Active TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564916657	chr10:44812965-44812966	Flanking Active TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs58428079	chr10:44812978-44812979	Flanking Active TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs61856384	chr10:44813027-44813028	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs190499608	chr10:44813078-44813079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550890794	chr10:44813144-44813145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569127126	chr10:44813152-44813153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372689292	chr10:44813172-44813173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376096104	chr10:44813184-44813185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368913327	chr10:44813190-44813191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548173308	chr10:44813220-44813221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192107698	chr10:44813278-44813279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184941702	chr10:44813310-44813311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369131239	chr10:44813351-44813352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs3740084	chr10:44813432-44813433	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs558651657	chr10:44813473-44813474	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190197355	chr10:44813529-44813530	Active TSS 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	22522925	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:44806600-44820800	Weak transcription	Right Atrium	heart
2	chr10:44807200-44822200	Weak transcription	Left Ventricle	heart
3	chr10:44807600-44820800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr10:44808000-44820000	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr10:44811600-44812600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr10:44811600-44812600	Active TSS	K562	blood
7	chr10:44812200-44812600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr10:44812200-44812800	Enhancers	Placenta	Placenta
9	chr10:44812400-44812600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr10:44812400-44812600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr10:44812400-44812600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr10:44812400-44812800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr10:44812400-44813000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr10:44812400-44813000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr10:44812600-44812800	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr10:44812600-44812800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr10:44812600-44813000	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr10:44812800-44813000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr10:44812800-44814200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr10:44812800-44817200	Weak transcription	Placenta	Placenta
21	chr10:44813400-44813600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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