Variant report

Variant	nsv819571
Chromosome Location	chr10:45674729-45678703
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:184)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF1	chr10:45678626-45678935	K562	blood:	n/a	n/a
2	IRF1	chr10:45678662-45678990	K562	blood:	n/a	n/a
3	YY1	chr10:45678271-45678466	K562	blood:	n/a	n/a

(count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:45675633-45675683	NT2-D1	testis:	n/a
2	chr10:45675633-45675683	NT2-D1	testis:	n/a
3	chr10:45675680-45675730	NHBE	bronchial:	n/a
4	chr10:45675577-45675627	SAEC	small airway:	n/a
5	chr10:45675633-45675683	GM12891	blood:	n/a
6	chr10:45675633-45675683	HCT-116	colon:	n/a
7	chr10:45675577-45675627	BJ	skin:	n/a
8	chr10:45675633-45675683	HCPEpiC	choroid plexus:	n/a
9	chr10:45675577-45675627	SKMC	muscle:	n/a
10	chr10:45675577-45675627	U87	brain:	n/a
11	chr10:45675680-45675730	RPTEC	kidney:	n/a
12	chr10:45675680-45675730	SAEC	small airway:	n/a
13	chr10:45675680-45675730	HRCEpiC	kidney:	n/a
14	chr10:45675577-45675627	AG10803	skin:	n/a
15	chr10:45675633-45675683	A549	lung:	n/a
16	chr10:45675577-45675627	Hepatocyte	liver:	n/a
17	chr10:45675680-45675730	HMEC	breast:	n/a
18	chr10:45675680-45675730	H1-hESC	embryonic stem cell:	embryo
19	chr10:45675577-45675627	CMK	blood:	n/a
20	chr10:45675680-45675730	AoSMC	blood vessel:	n/a
21	chr10:45675680-45675730	ovcar-3	ovarian:	n/a
22	chr10:45675680-45675730	K562	blood:	n/a
23	chr10:45675633-45675683	PFSK-1	brain:	n/a
24	chr10:45675577-45675627	LNCaP	prostate:	n/a
25	chr10:45675680-45675730	HPAEpiC	pulmonary alveolar:	n/a
26	chr10:45675680-45675730	HCF	heart:	n/a
27	chr10:45675633-45675683	RPTEC	kidney:	n/a
28	chr10:45675680-45675730	CMK	blood:	n/a
29	chr10:45675577-45675627	HNPCEpiC	eye:	n/a
30	chr10:45675633-45675683	NH-A	brain:	n/a
31	chr10:45675577-45675627	SK-N-SH	brain:	n/a
32	chr10:45675577-45675627	PrEC	prostate:	n/a
33	chr10:45675577-45675627	HL-60	blood:	n/a
34	chr10:45675680-45675730	NB4	blood:	n/a
35	chr10:45675577-45675627	PFSK-1	brain:	n/a
36	chr10:45675577-45675627	AG04449	skin:	fetal
37	chr10:45675577-45675627	HRPEpiC	eye:	n/a
38	chr10:45675680-45675730	HCPEpiC	choroid plexus:	n/a
39	chr10:45675577-45675627	HCM	heart:	n/a
40	chr10:45675577-45675627	HMEC	breast:	n/a
41	chr10:45675633-45675683	GM19239	blood:	n/a
42	chr10:45675680-45675730	BE2_C	brain:	n/a
43	chr10:45675577-45675627	NT2-D1	testis:	n/a
44	chr10:45675633-45675683	HEEpiC	esophagus:	n/a
45	chr10:45675680-45675730	T-47D	breast:	n/a
46	chr10:45675633-45675683	MCF10A-Er-Src	breast:	n/a
47	chr10:45675680-45675730	HCM	heart:	n/a
48	chr10:45675680-45675730	NHDF-neo	bronchial:	n/a
49	chr10:45675680-45675730	HEEpiC	esophagus:	n/a
50	chr10:45675633-45675683	AG10803	skin:	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	chr10:45674490..45676456-chr10:45679865..45681519,2	K562	blood:
3	chr10:45673165..45677202-chr10:45678075..45681365,4	K562	blood:
4	chr10:45494680..45497168-chr10:45675442..45677371,2	K562	blood:
5	chr10:45673653..45675477-chr10:45677321..45679221,2	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: 161 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:161 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558555075	chr10:45674807-45674808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs560513024	chr10:45674812-45674813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565655143	chr10:45674816-45674817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs112519872	chr10:45674823-45674824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191724935	chr10:45674876-45674877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552684634	chr10:45674910-45674911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs12783369	chr10:45675009-45675010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544306976	chr10:45675027-45675028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570873198	chr10:45675035-45675036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs375773188	chr10:45675038-45675039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs563898591	chr10:45675055-45675056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs145488041	chr10:45675064-45675065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs183891767	chr10:45675103-45675104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs148441720	chr10:45675104-45675105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575903137	chr10:45675109-45675110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs11239374	chr10:45675153-45675154	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs187569066	chr10:45675238-45675239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533662554	chr10:45675283-45675284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs368455597	chr10:45675355-45675356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs558197389	chr10:45675357-45675358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs368311759	chr10:45675361-45675362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs576441074	chr10:45675373-45675374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs191446496	chr10:45675408-45675409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs112227130	chr10:45675420-45675421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs143984680	chr10:45675434-45675435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs554914245	chr10:45675487-45675488	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs574741926	chr10:45675491-45675492	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs561435662	chr10:45675498-45675499	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs372645364	chr10:45675500-45675501	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs11239375	chr10:45675525-45675526	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs542145455	chr10:45675548-45675549	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs372016391	chr10:45675563-45675564	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs113089551	chr10:45675616-45675617	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs527860911	chr10:45675625-45675626	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs552711489	chr10:45675633-45675634	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs369003624	chr10:45675643-45675644	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs564523099	chr10:45675647-45675648	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs141089476	chr10:45675679-45675680	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs550189080	chr10:45675681-45675682	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs576515701	chr10:45675711-45675712	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs568346638	chr10:45675727-45675728	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs372496871	chr10:45675744-45675745	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs534457731	chr10:45675746-45675747	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs113905832	chr10:45675765-45675766	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs60042454	chr10:45675794-45675795	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs548155858	chr10:45675835-45675836	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs566675965	chr10:45675857-45675858	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs533700122	chr10:45675883-45675884	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs558234203	chr10:45675935-45675936	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs570259547	chr10:45675953-45675954	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

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

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

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

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