Variant report

Variant	nsv550875
Chromosome Location	chr10:53843374-53923411
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:14)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:53871608..53873718-chr10:53877748..53879597,2	K562	blood:
2	chr10:53906856..53908912-chr10:53910434..53911950,2	K562	blood:
3	chr10:53864580..53866365-chr10:53866545..53868550,2	K562	blood:
4	chr10:53897685..53900097-chr10:53900514..53902494,2	MCF-7	breast:
5	chr10:53871608..53873718-chr10:53877748..53879597,2	K562	blood:
6	chr10:53920148..53922306-chr10:53923246..53925230,2	MCF-7	breast:
7	chr10:53897844..53898554-chr9:136583587..136584561,2	MCF-7	breast:
8	chr10:53920148..53922306-chr10:53923246..53925230,2	MCF-7	breast:
9	chr10:53897685..53900097-chr10:53900514..53902494,2	MCF-7	breast:
10	chr10:53876823..53879569-chr5:4880491..4883290,2	MCF-7	breast:
11	chr10:53905345..53907356-chr10:54205524..54208518,2	MCF-7	breast:
12	chr10:53906856..53908912-chr10:53910434..53911950,2	K562	blood:
13	chr10:53864883..53865551-chr10:53975440..53976171,2	MCF-7	breast:
14	chr10:53864580..53866365-chr10:53866545..53868550,2	K562	blood:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CSTF2T-2	chr10:53884352-53884515	NONHSAT013415
2	lnc-CSTF2T-2	chr10:53900163-53900299	NONHSAT013415
3	lnc-CSTF2T-2	chr10:53884872-53885038	ucscGeneNc_uc001jjs_2
4	lnc-CSTF2T-2	chr10:53884352-53884515	ucscGeneNc_uc001jjs_2
5	lnc-CSTF2T-2	chr10:53881080-53881283	NONHSAT013415
6	lnc-CSTF2T-2	chr10:53884872-53885038	NONHSAT013414
7	lnc-CSTF2T-2	chr10:53884352-53884515	NONHSAT013414
8	lnc-CSTF2T-2	chr10:53880643-53881283	NONHSAT013414
9	lnc-CSTF2T-2	chr10:53880644-53881283	ucscGeneNc_uc001jjs_2
10	lnc-CSTF2T-2	chr10:53893034-53893098	NONHSAT013415

No data

Extended variants
information (count: 3061 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:3061 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7072999	chr10:53843374-53843375	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs7071997	chr10:53843375-53843376	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs558577729	chr10:53843412-53843413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371874072	chr10:53843415-53843416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189794214	chr10:53843440-53843441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558179105	chr10:53843545-53843546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142237187	chr10:53843586-53843587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574071517	chr10:53843607-53843608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539970822	chr10:53843626-53843627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs151225722	chr10:53843776-53843777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11000724	chr10:53843851-53843852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs367655840	chr10:53843856-53843857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552695331	chr10:53843879-53843880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1904023	chr10:53843882-53843883	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs532086443	chr10:53843899-53843900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs1904022	chr10:53843929-53843930	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs182099056	chr10:53843945-53843946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534168846	chr10:53843946-53843947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564482335	chr10:53843957-53843958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547591095	chr10:53843960-53843961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113500826	chr10:53844001-53844002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76499128	chr10:53844045-53844046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114444111	chr10:53844306-53844307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558369225	chr10:53844323-53844324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575079319	chr10:53844398-53844399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146441507	chr10:53844411-53844412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554412856	chr10:53844420-53844421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574108328	chr10:53844446-53844447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140947520	chr10:53844469-53844470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376159749	chr10:53844478-53844479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559996849	chr10:53844483-53844484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188917523	chr10:53844488-53844489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs114897386	chr10:53844499-53844500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs193232642	chr10:53844518-53844519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531921183	chr10:53844542-53844543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548921255	chr10:53844569-53844570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs34470998	chr10:53844594-53844595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs578136249	chr10:53844638-53844639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562335405	chr10:53844673-53844674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374307192	chr10:53844693-53844694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs527687734	chr10:53844703-53844704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183628007	chr10:53844768-53844769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200338026	chr10:53844806-53844807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145793090	chr10:53844821-53844822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188635103	chr10:53844846-53844847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529288313	chr10:53844861-53844862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145368029	chr10:53844870-53844871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568731333	chr10:53844913-53844914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116091851	chr10:53844947-53844948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562059846	chr10:53844963-53844964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
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
Obesity	21956041	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Intellectual disability	21948486	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Mental retardation	17124404	CNVD
Epilepsy	20923578	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	19329560	CNVD
Heart failure	18772530	CNVD
Heart failure	18854381	CNVD
Hyperglycemia	19060297	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Glioblastoma multiforme	22286061	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Usher syndrome	20538994	CNVD
Glioblastoma multiforme	17002787	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:180 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:53824400-53846200	Weak transcription	Aorta	Aorta
2	chr10:53839800-53852200	Weak transcription	Psoas Muscle	Psoas
3	chr10:53846200-53846800	Enhancers	Aorta	Aorta
4	chr10:53846800-53859800	Weak transcription	Aorta	Aorta
5	chr10:53847800-53851600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr10:53848200-53848400	Enhancers	Pancreas	Pancrea
7	chr10:53848400-53849200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr10:53851400-53852800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr10:53851400-53853200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr10:53851400-53853200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr10:53851600-53852000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr10:53851600-53852000	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr10:53851600-53852800	Enhancers	H1 Cell Line	embryonic stem cell
14	chr10:53851600-53854600	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr10:53851800-53853000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr10:53851800-53853000	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr10:53852000-53854400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr10:53852200-53852400	Enhancers	H9 Cell Line	embryonic stem cell
19	chr10:53852400-53852600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr10:53852400-53855400	Weak transcription	Psoas Muscle	Psoas
21	chr10:53852400-53855600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr10:53852800-53853400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr10:53852800-53854200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr10:53853000-53854000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr10:53853000-53861600	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr10:53853200-53854200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr10:53853200-53854400	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr10:53853400-53854400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr10:53854000-53854400	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr10:53854200-53854800	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr10:53854400-53854600	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr10:53854400-53854600	Enhancers	H1 Cell Line	embryonic stem cell
33	chr10:53854400-53855000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr10:53854400-53855800	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr10:53854600-53854800	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr10:53854800-53866600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr10:53855600-53856400	Enhancers	H9 Cell Line	embryonic stem cell
38	chr10:53856000-53856200	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr10:53856400-53866200	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr10:53859600-53860000	Enhancers	Fetal Muscle Leg	muscle
41	chr10:53859800-53860000	Enhancers	Aorta	Aorta
42	chr10:53859800-53860200	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr10:53860000-53860400	Enhancers	HepG2	liver
44	chr10:53860000-53865600	Weak transcription	Aorta	Aorta
45	chr10:53861600-53862000	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr10:53861600-53862000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr10:53861600-53862200	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr10:53861600-53862600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr10:53862200-53866600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr10:53865800-53867000	Enhancers	Skeletal Muscle Male	skeletal muscle

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