Variant report

Variant	nsv895442
Chromosome Location	chr10:56212367-56295820
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr10:56227115-56227329	K562	blood:	n/a	n/a
2	CEBPB	chr10:56255402-56255747	HepG2	liver:	n/a	chr10:56255576-56255587
3	CEBPB	chr10:56237551-56237863	Hela-S3	cervix:	n/a	chr10:56237702-56237713 chr10:56237703-56237712 chr10:56237703-56237712 chr10:56237701-56237714 chr10:56237703-56237712
4	CEBPB	chr10:56237521-56237900	H1-hESC	embryonic stem cell:	n/a	chr10:56237702-56237713 chr10:56237703-56237712 chr10:56237703-56237712 chr10:56237701-56237714 chr10:56237703-56237712
5	CEBPB	chr10:56237520-56237876	IMR90	lung:	n/a	chr10:56237702-56237713 chr10:56237703-56237712 chr10:56237703-56237712 chr10:56237701-56237714 chr10:56237703-56237712
6	CEBPB	chr10:56255412-56255696	A549	lung:	n/a	chr10:56255576-56255587
7	CEBPB	chr10:56294125-56294209	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPB	chr10:56237599-56237861	ECC-1	luminal epithelium:	n/a	chr10:56237702-56237713 chr10:56237703-56237712 chr10:56237703-56237712 chr10:56237701-56237714 chr10:56237703-56237712
9	CEBPB	chr10:56237523-56237874	HepG2	liver:	n/a	chr10:56237702-56237713 chr10:56237703-56237712 chr10:56237703-56237712 chr10:56237701-56237714 chr10:56237703-56237712
10	CEBPB	chr10:56237556-56237775	A549	lung:	n/a	chr10:56237702-56237713 chr10:56237703-56237712 chr10:56237703-56237712 chr10:56237701-56237714 chr10:56237703-56237712
11	CEBPB	chr10:56237518-56237880	K562	blood:	n/a	chr10:56237702-56237713 chr10:56237703-56237712 chr10:56237703-56237712 chr10:56237701-56237714 chr10:56237703-56237712
12	CTCF	chr10:56245983-56245998	Spleen_OC	spleen:	n/a	n/a
13	E2F4	chr10:56271686-56271852	MCF10A-Er-Src	breast:	n/a	n/a
14	E2F4	chr10:56287906-56288071	MCF10A-Er-Src	breast:	n/a	n/a
15	EBF1	chr10:56268927-56269162	GM12878	blood:	n/a	chr10:56269070-56269081
16	EBF1	chr10:56243914-56244319	GM12878	blood:	n/a	chr10:56244093-56244103 chr10:56244093-56244102
17	ELK1	chr10:56243977-56243990	GM12878	blood:	n/a	n/a
18	EP300	chr10:56251301-56251319	Hela-S3	cervix:	n/a	n/a
19	FOXA1	chr10:56275107-56275279	T-47D	breast:	n/a	n/a
20	FOXA1	chr10:56275086-56275300	HepG2	liver:	n/a	n/a
21	FOXA1	chr10:56275090-56275367	HepG2	liver:	n/a	n/a
22	FOXA1	chr10:56275064-56275360	HepG2	liver:	n/a	n/a
23	FOXA1	chr10:56275092-56275346	HepG2	liver:	n/a	n/a
24	FOXA2	chr10:56274923-56275413	A549	lung:	n/a	n/a
25	FOXA2	chr10:56275125-56275272	HepG2	liver:	n/a	n/a
26	GATA3	chr10:56261680-56262139	MCF-7	breast:	n/a	n/a
27	GATA3	chr10:56251982-56252054	SH-SY5Y	brain:	n/a	n/a
28	GATA3	chr10:56220989-56221074	SH-SY5Y	brain:	n/a	n/a
29	GTF2F1	chr10:56233043-56233058	H1-hESC	embryonic stem cell:	n/a	n/a
30	JUN	chr10:56294640-56294741	K562	blood:	n/a	n/a
31	JUN	chr10:56254353-56254502	K562	blood:	n/a	n/a
32	JUN	chr10:56281915-56282139	HepG2	liver:	n/a	chr10:56281995-56282008
33	MAFF	chr10:56216536-56216754	HepG2	liver:	n/a	chr10:56216627-56216645
34	MAFF	chr10:56233641-56233841	HepG2	liver:	n/a	n/a
35	MAFF	chr10:56282769-56282953	HepG2	liver:	n/a	chr10:56282872-56282890
36	MAFF	chr10:56233658-56233773	K562	blood:	n/a	n/a
37	MAFK	chr10:56233566-56233918	HepG2	liver:	n/a	n/a
38	MAFK	chr10:56233622-56233891	IMR90	lung:	n/a	n/a
39	MAFK	chr10:56247516-56247828	HepG2	liver:	n/a	chr10:56247675-56247686 chr10:56247674-56247689 chr10:56247675-56247686
40	MAFK	chr10:56247569-56247774	K562	blood:	n/a	chr10:56247675-56247686 chr10:56247674-56247689 chr10:56247675-56247686
41	MAFK	chr10:56214327-56214523	HepG2	liver:	n/a	n/a
42	MAFK	chr10:56233699-56233799	K562	blood:	n/a	n/a
43	MAFK	chr10:56247544-56247782	HepG2	liver:	n/a	chr10:56247675-56247686 chr10:56247674-56247689 chr10:56247675-56247686
44	MAFK	chr10:56216488-56216798	HepG2	liver:	n/a	chr10:56216628-56216643
45	MAFK	chr10:56247545-56247825	IMR90	lung:	n/a	chr10:56247675-56247686 chr10:56247674-56247689 chr10:56247675-56247686
46	MAFK	chr10:56282733-56283004	HepG2	liver:	n/a	chr10:56282877-56282888 chr10:56282877-56282888 chr10:56282873-56282889 chr10:56282878-56282889 chr10:56282878-56282889 chr10:56282876-56282890
47	MAFK	chr10:56216490-56216793	IMR90	lung:	n/a	chr10:56216628-56216643
48	MAFK	chr10:56233644-56233874	HepG2	liver:	n/a	n/a
49	MAFK	chr10:56247535-56247784	Hela-S3	cervix:	n/a	chr10:56247675-56247686 chr10:56247674-56247689 chr10:56247675-56247686
50	MAFK	chr10:56216534-56216779	HepG2	liver:	n/a	chr10:56216628-56216643

No.	Distal block	Cell Line	Cell type
1	chr10:56255140..56257501-chr10:56263291..56266087,2	K562	blood:
2	chr10:56255140..56257501-chr10:56263291..56266087,2	K562	blood:
3	chr10:56242648..56244262-chr10:56246298..56248916,2	MCF-7	breast:
4	chr10:56242648..56244262-chr10:56246298..56248916,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MTRNR2L5-4	chr10:56245990-56246076	NONHSAT013457
2	lnc-MTRNR2L5-4	chr10:56245990-56246076	ENSG00000234173.1

Variant related genes	Relation type
ENSG00000234173	TF binding region
RNU6-687P	TF binding region

Extended variants
information (count: 357 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:357 , 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	rs554581395	chr10:56214359-56214360	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs574818104	chr10:56214401-56214402	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs191324494	chr10:56214403-56214404	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs376845883	chr10:56214404-56214405	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs560112706	chr10:56214432-56214433	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs576924856	chr10:56214439-56214440	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs565708624	chr10:56216546-56216547	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs534302192	chr10:56216548-56216549	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs111844903	chr10:56216549-56216550	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs137955261	chr10:56216563-56216564	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs539889458	chr10:56216573-56216574	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs556575734	chr10:56216585-56216586	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs576842904	chr10:56216702-56216703	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs542509781	chr10:56216703-56216704	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs372444806	chr10:56216704-56216705	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs562331899	chr10:56216717-56216718	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs72792524	chr10:56216726-56216727	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs149451584	chr10:56216754-56216755	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs541131696	chr10:56216763-56216764	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs564071049	chr10:56216777-56216778	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs577332145	chr10:56217241-56217242	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs142735356	chr10:56217248-56217249	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs569806514	chr10:56229421-56229422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs112241198	chr10:56229468-56229469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs9416359	chr10:56229504-56229505	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs7093119	chr10:56229515-56229516	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs369983717	chr10:56229521-56229522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs150985808	chr10:56229524-56229525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs140493510	chr10:56229545-56229546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs571067091	chr10:56229621-56229622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs12259617	chr10:56229623-56229624	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs556500576	chr10:56229653-56229654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs7093404	chr10:56229655-56229656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs188297036	chr10:56229656-56229657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs369051458	chr10:56229691-56229692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs113762197	chr10:56229772-56229773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs535655078	chr10:56229787-56229788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs555069519	chr10:56229790-56229791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs75943221	chr10:56229816-56229817	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs191437870	chr10:56229869-56229870	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs563695199	chr10:56229877-56229878	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs577884644	chr10:56229910-56229911	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs183783731	chr10:56229925-56229926	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs563421498	chr10:56229932-56229933	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs78756573	chr10:56230014-56230015	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs555151537	chr10:56230035-56230036	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs549197160	chr10:56230036-56230037	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs371357001	chr10:56230037-56230038	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs188717868	chr10:56230050-56230051	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs547815840	chr10:56230051-56230052	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Obesity	21956041	CNVD
Developmental delay	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
Colorectal cancer	16774939	CNVD
Autism	20858243	CNVD
Breast cancer	22522925	CNVD
Usher type I cohort	17277737	CNVD
Usher type I cohort	21436283	CNVD
Leukemia	21357790	CNVD
Medulloblastoma	22832581	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD
Cancer	20164919	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:56229400-56230200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr10:56229600-56229800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr10:56229600-56229800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr10:56229800-56230200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr10:56229800-56230200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr10:56229800-56230200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr10:56229800-56230200	Active TSS	HepG2	liver
8	chr10:56230000-56230200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr10:56230000-56230200	Enhancers	Pancreas	Pancrea
10	chr10:56230000-56230400	Enhancers	Lung	lung
11	chr10:56230000-56230400	Enhancers	Placenta Amnion	Placenta Amnion
12	chr10:56230200-56230400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr10:56230200-56230400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr10:56233800-56234400	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr10:56233800-56234600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr10:56234000-56234200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr10:56234000-56234400	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr10:56234000-56234400	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr10:56234000-56234600	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr10:56234000-56234800	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr10:56234400-56237200	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr10:56234400-56237800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr10:56234400-56238200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr10:56234600-56236600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr10:56234600-56238400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr10:56234800-56237800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr10:56236600-56238800	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr10:56237200-56238800	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr10:56237800-56238800	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr10:56237800-56238800	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr10:56238200-56238400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr10:56238200-56238600	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr10:56238200-56238800	Enhancers	Brain Germinal Matrix	brain
34	chr10:56238400-56238600	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr10:56238400-56238800	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr10:56240000-56240200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr10:56243600-56244200	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr10:56244200-56245400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr10:56245800-56246000	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr10:56256600-56257000	Enhancers	Spleen	Spleen
41	chr10:56262000-56262400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr10:56290800-56291200	Enhancers	HUES48 Cell Line	embryonic stem cell

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