Variant report

Variant	nsv982848
Chromosome Location	chr10:45657182-45673875
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:76)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:14)
Mature miRNA
region (count: 2)
miRNA target
sites (count:0)

(count:76 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr10:45670888-45671727	K562	blood:	n/a	n/a
2	ATF1	chr10:45670941-45671680	K562	blood:	n/a	n/a
3	BATF	chr10:45671160-45671363	GM12878	blood:	n/a	n/a
4	BHLHE40	chr10:45671251-45671575	K562	blood:	n/a	n/a
5	CBX3	chr10:45671154-45671707	K562	blood:	n/a	n/a
6	CCNT2	chr10:45671316-45671586	K562	blood:	n/a	n/a
7	CEBPB	chr10:45661790-45661981	K562	blood:	n/a	n/a
8	CEBPB	chr10:45670881-45670963	K562	blood:	n/a	n/a
9	CEBPB	chr10:45671264-45671730	K562	blood:	n/a	n/a
10	CEBPD	chr10:45671321-45671626	K562	blood:	n/a	n/a
11	CEBPD	chr10:45671253-45671651	K562	blood:	n/a	n/a
12	CTCF	chr10:45659150-45659196	GM10266	blood:	n/a	n/a
13	CTCF	chr10:45666438-45666491	MCF-7	breast:	n/a	n/a
14	CTCF	chr10:45659139-45659149	GM10266	blood:	n/a	n/a
15	CTCF	chr10:45671565-45671579	K562	blood:	n/a	n/a
16	CTCF	chr10:45666420-45666495	ProgFib	skin:	n/a	n/a
17	CUX1	chr10:45671224-45671597	K562	blood:	n/a	n/a
18	EP300	chr10:45671236-45671395	K562	blood:	n/a	n/a
19	EP300	chr10:45671207-45671699	K562	blood:	n/a	n/a
20	GABPA	chr10:45671237-45671664	K562	blood:	n/a	n/a
21	GATA1	chr10:45670750-45671692	K562	blood:	n/a	chr10:45670785-45670795
22	GATA1	chr10:45670770-45671865	PBDE	blood:	n/a	chr10:45670785-45670795
23	GATA2	chr10:45671244-45671680	K562	blood:	n/a	n/a
24	GATA2	chr10:45670906-45671631	K562	blood:	n/a	n/a
25	GATA3	chr10:45670948-45671611	T-47D	breast:	n/a	n/a
26	IRF1	chr10:45671100-45671836	K562	blood:	n/a	n/a
27	IRF1	chr10:45664838-45664867	K562	blood:	n/a	n/a
28	IRF1	chr10:45671203-45671743	K562	blood:	n/a	n/a
29	IRF1	chr10:45665073-45665210	K562	blood:	n/a	chr10:45665131-45665145 chr10:45665132-45665144 chr10:45665132-45665144
30	JUN	chr10:45671268-45671585	K562	blood:	n/a	n/a
31	JUND	chr10:45671204-45671582	K562	blood:	n/a	n/a
32	JUND	chr10:45665623-45665734	HepG2	liver:	n/a	n/a
33	JUND	chr10:45670872-45670874	K562	blood:	n/a	n/a
34	MAFF	chr10:45671086-45671312	K562	blood:	n/a	n/a
35	MAFK	chr10:45671093-45671314	K562	blood:	n/a	n/a
36	MAFK	chr10:45663890-45664160	HepG2	liver:	n/a	n/a
37	MAX	chr10:45672689-45672764	NB4	blood:	n/a	chr10:45672702-45672712
38	MAX	chr10:45671382-45671452	K562	blood:	n/a	n/a
39	MAX	chr10:45671232-45671628	K562	blood:	n/a	n/a
40	MAZ	chr10:45671362-45671576	K562	blood:	n/a	n/a
41	MXI1	chr10:45672789-45672891	K562	blood:	n/a	n/a
42	MXI1	chr10:45671317-45671585	K562	blood:	n/a	n/a
43	MYC	chr10:45671244-45671624	K562	blood:	n/a	n/a
44	MYC	chr10:45671375-45671759	K562	blood:	n/a	n/a
45	NR2F2	chr10:45671232-45671624	K562	blood:	n/a	n/a
46	NR2F2	chr10:45671112-45671718	K562	blood:	n/a	n/a
47	PML	chr10:45671211-45671685	K562	blood:	n/a	n/a
48	PML	chr10:45671235-45671646	K562	blood:	n/a	n/a
49	POLR2A	chr10:45661903-45661918	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr10:45671256-45671533	K562	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:45651287..45652850-chr10:45656452..45658070,2	K562	blood:
2	chr10:45673653..45675477-chr10:45677321..45679221,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF22-2	chr10:45669864-45670078	NONHSAT013084
2	lnc-ZNF22-2	chr10:45667261-45667322	NONHSAT013085
3	lnc-ZNF22-2	chr10:45665455-45665524	NONHSAT013085
4	lnc-ZNF22-2	chr10:45666872-45666992	NONHSAT013084
5	lnc-ZNF22-2	chr10:45667261-45667322	NONHSAT013084
6	lnc-ZNF22-2	chr10:45667983-45668080	NONHSAT013084
7	lnc-ZNF22-2	chr10:45667983-45668080	NONHSAT013085
8	lnc-ZNF22-2	chr10:45657560-45657590	ENSG00000243349.2
9	lnc-ZNF22-2	chr10:45666872-45666950	NONHSAT013085
10	lnc-ZNF22-2	chr10:45665455-45666837	ENSG00000243349.2
11	lnc-ZNF22-2	chr10:45664883-45664961	ENSG00000243349.2
12	lnc-ZNF22-2	chr10:45657560-45657590	NONHSAT013085
13	lnc-ZNF22-2	chr10:45669864-45670078	NONHSAT013085
14	lnc-OR13A1-1	chr10:45659676-45659864	ENSG00000227683

miRNA name	Chromosome Location	mirBase accession
hsa-miR-3156-3p	chr10:45659510-45659530	MIMAT0019209
hsa-miR-3156-5p	chr10:45659469-45659490	MIMAT0015030

No data

Variant related genes	Relation type
MIR3156-1	TF binding region
ENSG00000230501	chromatin interactions

Extended variants
information (count: 383 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:383 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541007332	chr10:45657212-45657213	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs146949201	chr10:45657251-45657252	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs189854628	chr10:45657314-45657315	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs575657283	chr10:45657339-45657340	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs138026628	chr10:45657350-45657351	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs561101148	chr10:45657383-45657384	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs369644391	chr10:45657411-45657412	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs112946009	chr10:45657438-45657439	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs573621299	chr10:45657444-45657445	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs74442417	chr10:45657599-45657600	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs142665303	chr10:45657635-45657636	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs3070346	chr10:45657638-45657639	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs57273037	chr10:45657639-45657640	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs79976101	chr10:45657640-45657641	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs73277362	chr10:45657771-45657772	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs529516172	chr10:45657790-45657791	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs190229746	chr10:45657792-45657793	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs143374694	chr10:45657803-45657804	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs568830096	chr10:45657806-45657807	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs114350081	chr10:45657813-45657814	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs143028061	chr10:45657816-45657817	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs183538002	chr10:45657892-45657893	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs534099380	chr10:45657896-45657897	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs188592202	chr10:45657956-45657957	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs533030233	chr10:45657969-45657970	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs78956333	chr10:45657987-45657988	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs538333865	chr10:45658033-45658034	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs3851262	chr10:45658078-45658079	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs562907061	chr10:45658087-45658088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574869411	chr10:45658104-45658105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558820654	chr10:45658139-45658140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551839770	chr10:45658202-45658203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs75620774	chr10:45658205-45658206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs79169361	chr10:45658206-45658207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561136371	chr10:45658298-45658299	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs573088409	chr10:45658315-45658316	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs191435697	chr10:45658392-45658393	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs564993495	chr10:45658393-45658394	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs532157925	chr10:45658464-45658465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184069816	chr10:45658473-45658474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187572086	chr10:45658493-45658494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529621538	chr10:45658548-45658549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191454429	chr10:45658572-45658573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183621262	chr10:45658574-45658575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148270995	chr10:45658621-45658622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552447896	chr10:45658700-45658701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571015726	chr10:45658813-45658814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537987526	chr10:45658817-45658818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556597194	chr10:45658891-45658892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564034078	chr10:45658906-45658907	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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45654600-45657400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr10:45655200-45657800	Enhancers	HMEC	breast
3	chr10:45656800-45657800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr10:45657400-45660000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr10:45657800-45658000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr10:45659000-45659200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr10:45659000-45659400	Enhancers	Aorta	Aorta
8	chr10:45667400-45668600	Enhancers	Fetal Heart	heart
9	chr10:45668600-45671200	Weak transcription	Fetal Heart	heart
10	chr10:45670200-45670600	Weak transcription	K562	blood
11	chr10:45670600-45670800	Enhancers	K562	blood
12	chr10:45670800-45671200	Flanking Active TSS	K562	blood
13	chr10:45670800-45671600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr10:45670800-45671600	Enhancers	Placenta	Placenta
15	chr10:45671200-45671400	Enhancers	K562	blood
16	chr10:45671200-45672600	Enhancers	Fetal Heart	heart
17	chr10:45671400-45671800	Flanking Active TSS	K562	blood
18	chr10:45671600-45676200	Weak transcription	Placenta	Placenta
19	chr10:45671600-45676400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr10:45671800-45673000	Enhancers	K562	blood

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