Variant report

Variant	nsv971918
Chromosome Location	chr10:45671966-45679201
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:183)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF1	chr10:45678662-45678990	K562	blood:	n/a	n/a
2	IRF1	chr10:45678743-45678890	K562	blood:	n/a	n/a
3	IRF1	chr10:45678626-45678935	K562	blood:	n/a	n/a
4	KAP1	chr10:45674054-45674205	K562	blood:	n/a	n/a
5	MAX	chr10:45672689-45672764	NB4	blood:	n/a	chr10:45672702-45672712
6	MXI1	chr10:45672789-45672891	K562	blood:	n/a	n/a
7	MYC	chr10:45678851-45678862	H1-hESC	embryonic stem cell:	n/a	n/a
8	MYC	chr10:45678883-45678888	NB4	blood:	n/a	n/a
9	POLR2A	chr10:45672471-45672529	MCF10A-Er-Src	breast:	n/a	n/a
10	RCOR1	chr10:45672758-45672793	K562	blood:	n/a	n/a
11	YY1	chr10:45678271-45678466	K562	blood:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:45675577-45675627	Hela-S3	cervix:	n/a
2	chr10:45675633-45675683	Caco-2	colon:	n/a
3	chr10:45675680-45675730	HepG2	liver:	n/a
4	chr10:45675633-45675683	HPAEpiC	pulmonary alveolar:	n/a
5	chr10:45675680-45675730	HPAEpiC	pulmonary alveolar:	n/a
6	chr10:45675633-45675683	SK-N-SH	brain:	n/a
7	chr10:45675633-45675683	Hepatocyte	liver:	n/a
8	chr10:45675577-45675627	Caco-2	colon:	n/a
9	chr10:45675680-45675730	HAEpiC	amniotic membrane:	n/a
10	chr10:45675680-45675730	AG04450	lung:	fetal
11	chr10:45675633-45675683	AG04450	lung:	fetal
12	chr10:45675577-45675627	AG09319	gingival:	n/a
13	chr10:45675633-45675683	HepG2	liver:	n/a
14	chr10:45675633-45675683	H1-hESC	embryonic stem cell:	embryo
15	chr10:45675633-45675683	U87	brain:	n/a
16	chr10:45675577-45675627	NHDF-neo	bronchial:	n/a
17	chr10:45675577-45675627	U87	brain:	n/a
18	chr10:45675633-45675683	HCPEpiC	choroid plexus:	n/a
19	chr10:45675633-45675683	HNPCEpiC	eye:	n/a
20	chr10:45675633-45675683	NB4	blood:	n/a
21	chr10:45675633-45675683	RPTEC	kidney:	n/a
22	chr10:45675633-45675683	HEK293	kidney:	embryo
23	chr10:45675577-45675627	PFSK-1	brain:	n/a
24	chr10:45675680-45675730	BJ	skin:	n/a
25	chr10:45675633-45675683	NHDF-neo	bronchial:	n/a
26	chr10:45675680-45675730	GM06990	blood:	n/a
27	chr10:45675680-45675730	IMR90	lung:	fetal
28	chr10:45675633-45675683	SKMC	muscle:	n/a
29	chr10:45675680-45675730	GM12878	blood:	n/a
30	chr10:45675680-45675730	SKMC	muscle:	n/a
31	chr10:45675633-45675683	NH-A	brain:	n/a
32	chr10:45675680-45675730	PrEC	prostate:	n/a
33	chr10:45675633-45675683	PANC-1	pancreas:	n/a
34	chr10:45675577-45675627	HepG2	liver:	n/a
35	chr10:45675577-45675627	AoSMC	blood vessel:	n/a
36	chr10:45675680-45675730	HMEC	breast:	n/a
37	chr10:45675680-45675730	MCF-7	breast:	n/a
38	chr10:45675577-45675627	A549	lung:	n/a
39	chr10:45675577-45675627	ProgFib	skin:	n/a
40	chr10:45675577-45675627	AG04449	skin:	fetal
41	chr10:45675633-45675683	IMR90	lung:	fetal
42	chr10:45675577-45675627	SK-N-MC	brain:	n/a
43	chr10:45675577-45675627	SKMC	muscle:	n/a
44	chr10:45675633-45675683	HCM	heart:	n/a
45	chr10:45675577-45675627	HCF	heart:	n/a
46	chr10:45675680-45675730	NHDF-neo	bronchial:	n/a
47	chr10:45675577-45675627	HEEpiC	esophagus:	n/a
48	chr10:45675633-45675683	HAEpiC	amniotic membrane:	n/a
49	chr10:45675633-45675683	GM06990	blood:	n/a
50	chr10:45675633-45675683	A549	lung:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:45673653..45675477-chr10:45677321..45679221,2	K562	blood:
2	chr10:45494680..45497168-chr10:45675442..45677371,2	K562	blood:
3	chr10:45673653..45675477-chr10:45677321..45679221,2	K562	blood:
4	chr10:45673165..45677202-chr10:45678075..45681365,4	K562	blood:
5	chr10:45674490..45676456-chr10:45679865..45681519,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR13A1-1	chr10:45676530-45676875	ENSG00000227683

No data

Variant related genes	Relation type
ENSG00000227683	TF binding region
ENSG00000227683	CpG island
ENSG00000165512	chromatin interactions
ENSG00000165511	chromatin interactions
ENSG00000227683	chromatin interactions

Extended variants
information (count: 291 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:291 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188504614	chr10:45671968-45671969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs557001178	chr10:45671998-45671999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs115756548	chr10:45672051-45672052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs542563519	chr10:45672098-45672099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561329111	chr10:45672117-45672118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573890493	chr10:45672126-45672127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541304351	chr10:45672136-45672137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs142101023	chr10:45672154-45672155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs34382959	chr10:45672156-45672157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181690854	chr10:45672199-45672200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs199584260	chr10:45672229-45672230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548059687	chr10:45672231-45672232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs151174266	chr10:45672293-45672294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs140051819	chr10:45672377-45672378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs3851263	chr10:45672429-45672430	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs185082768	chr10:45672440-45672441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs535033972	chr10:45672476-45672477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs145247137	chr10:45672508-45672509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs372606684	chr10:45672531-45672532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs138125706	chr10:45672545-45672546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs538807927	chr10:45672574-45672575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs557035869	chr10:45672611-45672612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs144759300	chr10:45672624-45672625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs370796007	chr10:45672650-45672651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs12246809	chr10:45672670-45672671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs144753686	chr10:45672709-45672710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs536739469	chr10:45672784-45672785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs111685738	chr10:45672796-45672797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs554698227	chr10:45672828-45672829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs573170840	chr10:45672839-45672840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs540991169	chr10:45672844-45672845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs375688253	chr10:45672847-45672848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs190769924	chr10:45672862-45672863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs577925022	chr10:45672880-45672881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs545177689	chr10:45672883-45672884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs10900174	chr10:45672898-45672899	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs530664482	chr10:45672903-45672904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs11239373	chr10:45672920-45672921	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs372003363	chr10:45672934-45672935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs371604524	chr10:45672958-45672959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs144268514	chr10:45672990-45672991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs1252924	chr10:45673024-45673025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568169766	chr10:45673053-45673054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10900175	chr10:45673057-45673058	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs148326655	chr10:45673094-45673095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112677474	chr10:45673101-45673102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571558218	chr10:45673125-45673126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577619230	chr10:45673154-45673155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371138135	chr10:45673155-45673156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532662027	chr10:45673181-45673182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Glioblastoma multiforme	21138945	CNVD
Autism	19287141	CNVD
Intellectual disability	21948486	CNVD
Glioblastoma multiforme	21525872	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45671200-45672600	Enhancers	Fetal Heart	heart
2	chr10:45671600-45676200	Weak transcription	Placenta	Placenta
3	chr10:45671600-45676400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr10:45671800-45673000	Enhancers	K562	blood
5	chr10:45674400-45675200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr10:45675000-45675200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr10:45675200-45675600	Enhancers	Fetal Stomach	stomach
8	chr10:45675200-45676600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr10:45675400-45675600	Enhancers	Adipose Nuclei	Adipose
10	chr10:45675400-45677200	Enhancers	Fetal Muscle Leg	muscle
11	chr10:45676000-45676200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr10:45676000-45676600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr10:45676000-45676600	Enhancers	Spleen	Spleen
14	chr10:45676000-45677200	Enhancers	Aorta	Aorta
15	chr10:45676200-45676400	Enhancers	Right Atrium	heart
16	chr10:45676200-45677600	Enhancers	Placenta	Placenta
17	chr10:45676200-45679400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr10:45676400-45677000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr10:45676400-45677000	Weak transcription	Right Atrium	heart
20	chr10:45676400-45677400	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr10:45676600-45677200	Enhancers	Adipose Nuclei	Adipose
22	chr10:45676600-45677600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr10:45676800-45677400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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