Variant report

Variant	nsv466884
Chromosome Location	chr10:44473036-44515130
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:10)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr10:44495582..44498780-chr10:44499655..44502319,3	K562	blood:
2	chr10:44476619..44478130-chr10:44479030..44481998,2	K562	blood:
3	chr10:44495582..44498780-chr10:44499655..44502319,3	K562	blood:
4	chr10:44491930..44494556-chr10:44497105..44500011,2	K562	blood:
5	chr10:44478479..44480901-chr10:44492659..44495293,2	K562	blood:
6	chr10:44491930..44494556-chr10:44497105..44500011,2	K562	blood:
7	chr10:44478479..44480901-chr10:44492659..44495293,2	K562	blood:
8	chr10:44509739..44511242-chr10:44512811..44514993,2	K562	blood:
9	chr10:44476619..44478130-chr10:44479030..44481998,2	K562	blood:
10	chr10:44509739..44511242-chr10:44512811..44514993,2	K562	blood:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C10orf136-1	chr10:44475902-44476564	XLOC_008473
2	lnc-C10orf136-1	chr10:44475902-44476548	NONHSAT013021
3	lnc-C10orf136-1	chr10:44475902-44476564	XLOC_008473
4	lnc-C10orf136-1	chr10:44475902-44476390	XLOC_008473
5	lnc-C10orf136-1	chr10:44475902-44478430	XLOC_008473
6	lnc-C10orf136-1	chr10:44476880-44476909	XLOC_008473
7	lnc-C10orf136-1	chr10:44475902-44479412	XLOC_008473
8	lnc-C10orf136-1	chr10:44479617-44480067	XLOC_008473

No data

Variant related genes	Relation type
BRWD1	miRNA target sites
CREB1	miRNA target sites
RELA	miRNA target sites
KIAA0494	miRNA target sites

Extended variants
information (count: 1505 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:1505 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10899958	chr10:44473036-44473037	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs138935487	chr10:44473082-44473083	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560978738	chr10:44473083-44473084	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184004958	chr10:44473088-44473089	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574886173	chr10:44473133-44473134	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567923571	chr10:44473134-44473135	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565059148	chr10:44473258-44473259	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78163145	chr10:44473270-44473271	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563034931	chr10:44473271-44473272	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs61856545	chr10:44473280-44473281	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs191175169	chr10:44473287-44473288	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs141231675	chr10:44473290-44473291	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567020987	chr10:44473325-44473326	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376072914	chr10:44473345-44473346	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201626313	chr10:44473423-44473424	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534713879	chr10:44473426-44473427	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552780855	chr10:44473504-44473505	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571398570	chr10:44473506-44473507	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs59922115	chr10:44473513-44473514	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs556726549	chr10:44473540-44473541	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs57075574	chr10:44473577-44473578	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs535832294	chr10:44473597-44473598	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554863194	chr10:44473612-44473613	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573024613	chr10:44473636-44473637	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs74956743	chr10:44473674-44473675	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1254672	chr10:44473731-44473732	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs183998646	chr10:44473740-44473741	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533438080	chr10:44473745-44473746	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369562774	chr10:44473766-44473767	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs1254673	chr10:44473793-44473794	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs548145630	chr10:44473807-44473808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568347517	chr10:44473822-44473823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548262774	chr10:44473842-44473843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560871260	chr10:44473868-44473869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547144761	chr10:44473889-44473890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527973101	chr10:44473905-44473906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs116283538	chr10:44473909-44473910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150770250	chr10:44473929-44473930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186863998	chr10:44473935-44473936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371179153	chr10:44473956-44473957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139167797	chr10:44473984-44473985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568824679	chr10:44473991-44473992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs79815593	chr10:44474022-44474023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554244803	chr10:44474041-44474042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566472018	chr10:44474072-44474073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377675246	chr10:44474077-44474078	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558384138	chr10:44474131-44474132	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75464386	chr10:44474144-44474145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544044832	chr10:44474231-44474232	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556642076	chr10:44474234-44474235	Enhancers 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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:381 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:44462000-44474400	Weak transcription	Left Ventricle	heart
2	chr10:44462400-44475200	Weak transcription	Right Atrium	heart
3	chr10:44466400-44476000	Weak transcription	Right Ventricle	heart
4	chr10:44469800-44482800	Weak transcription	Gastric	stomach
5	chr10:44470000-44475000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr10:44470200-44474400	Weak transcription	Fetal Muscle Leg	muscle
7	chr10:44471600-44473200	Weak transcription	Adipose Nuclei	Adipose
8	chr10:44472600-44476800	Enhancers	Primary hematopoietic stem cells	blood
9	chr10:44472600-44477200	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr10:44472800-44473800	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr10:44473000-44473600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr10:44473000-44473600	Enhancers	Spleen	Spleen
13	chr10:44473000-44473800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr10:44473000-44474400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr10:44473200-44473800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr10:44473200-44473800	Enhancers	Adipose Nuclei	Adipose
17	chr10:44473200-44474200	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr10:44473400-44473600	Enhancers	Primary T cells from cord blood	blood
19	chr10:44473400-44473600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr10:44473600-44473800	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr10:44473600-44475000	Weak transcription	Spleen	Spleen
22	chr10:44473600-44475200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr10:44473800-44475000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr10:44473800-44475000	Weak transcription	Adipose Nuclei	Adipose
25	chr10:44473800-44475400	Weak transcription	Primary T cells from cord blood	blood
26	chr10:44473800-44475800	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr10:44473800-44476000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr10:44473800-44477000	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr10:44474200-44475800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr10:44474400-44474800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr10:44474400-44476400	Enhancers	Fetal Muscle Leg	muscle
32	chr10:44474400-44476400	Enhancers	Left Ventricle	heart
33	chr10:44474800-44475800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr10:44475000-44476200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr10:44475000-44476200	Enhancers	Ovary	ovary
36	chr10:44475000-44476400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr10:44475000-44476400	Enhancers	Lung	lung
38	chr10:44475000-44476400	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr10:44475000-44476400	Enhancers	Spleen	Spleen
40	chr10:44475000-44476800	Enhancers	Adipose Nuclei	Adipose
41	chr10:44475000-44477000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr10:44475200-44476000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr10:44475200-44476200	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr10:44475200-44476200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr10:44475200-44476400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr10:44475200-44476600	Enhancers	Fetal Lung	lung
47	chr10:44475200-44476600	Enhancers	Fetal Muscle Trunk	muscle
48	chr10:44475200-44476600	Enhancers	Right Atrium	heart
49	chr10:44475400-44476600	Enhancers	Primary T cells from cord blood	blood
50	chr10:44475600-44476200	Enhancers	Fetal Stomach	stomach

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