Variant report

Variant	nsv1042073
Chromosome Location	chr10:18806900-18838303
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:115)
CpG islands
(count:184)
Chromatin interactive
region (count:3)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:115 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr10:18816520-18817458	IMR90	lung:	n/a	n/a
2	CEBPB	chr10:18809516-18809843	IMR90	lung:	n/a	chr10:18809681-18809692
3	CEBPB	chr10:18809527-18809839	HepG2	liver:	n/a	chr10:18809681-18809692
4	CTCF	chr10:18834900-18835050	GM12865	blood:	n/a	n/a
5	CTCF	chr10:18829430-18829467	GM10248	blood:	n/a	n/a
6	CTCF	chr10:18815400-18815550	Caco-2	colon:	n/a	n/a
7	CTCF	chr10:18838160-18838310	SK-N-SH_RA	brain:	n/a	n/a
8	E2F4	chr10:18817013-18817061	MCF10A-Er-Src	breast:	n/a	n/a
9	EBF1	chr10:18814084-18814140	GM12878	blood:	n/a	n/a
10	EP300	chr10:18812100-18812331	HepG2	liver:	n/a	n/a
11	EP300	chr10:18819978-18820141	K562	blood:	n/a	n/a
12	FOS	chr10:18812119-18812362	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr10:18812093-18812319	MCF10A-Er-Src	breast:	n/a	n/a
14	FOXA1	chr10:18811911-18812342	HepG2	liver:	n/a	n/a
15	FOXA1	chr10:18812003-18812291	HepG2	liver:	n/a	n/a
16	FOXA1	chr10:18831834-18832157	HepG2	liver:	n/a	chr10:18832043-18832055
17	FOXA1	chr10:18831536-18831800	HepG2	liver:	n/a	n/a
18	FOXA1	chr10:18811954-18812367	HepG2	liver:	n/a	n/a
19	FOXA1	chr10:18811963-18812295	HepG2	liver:	n/a	n/a
20	FOXA2	chr10:18811984-18812262	HepG2	liver:	n/a	n/a
21	FOXA2	chr10:18831521-18831771	HepG2	liver:	n/a	n/a
22	JUND	chr10:18831855-18832051	HepG2	liver:	n/a	n/a
23	KAP1	chr10:18818723-18819016	HEK293	kidney:	n/a	n/a
24	MAFF	chr10:18829149-18829535	K562	blood:	n/a	chr10:18829307-18829325
25	MAFF	chr10:18829149-18829539	HepG2	liver:	n/a	chr10:18829307-18829325
26	MAFK	chr10:18829138-18829496	HepG2	liver:	n/a	chr10:18829308-18829323
27	MAFK	chr10:18828827-18829624	GM12878	blood:	n/a	chr10:18829308-18829323
28	MAFK	chr10:18829141-18829497	H1-hESC	embryonic stem cell:	n/a	chr10:18829308-18829323
29	MAFK	chr10:18829134-18829502	K562	blood:	n/a	chr10:18829308-18829323
30	MAFK	chr10:18810205-18810333	HepG2	liver:	n/a	chr10:18810311-18810321
31	MAFK	chr10:18829082-18829507	IMR90	lung:	n/a	chr10:18829308-18829323
32	MAFK	chr10:18829132-18829502	HepG2	liver:	n/a	chr10:18829308-18829323
33	MAFK	chr10:18829181-18829486	Hela-S3	cervix:	n/a	chr10:18829308-18829323
34	MYC	chr10:18828463-18828464	MCF-7	breast:	n/a	n/a
35	MYC	chr10:18818105-18818137	MCF10A-Er-Src	breast:	n/a	n/a
36	MYC	chr10:18828481-18828484	MCF-7	breast:	n/a	n/a
37	NFYB	chr10:18822513-18822618	GM12878	blood:	n/a	n/a
38	NR3C1	chr10:18821531-18821716	A549	lung:	n/a	n/a
39	PAX5	chr10:18830915-18831112	GM12878	blood:	n/a	n/a
40	POLR2A	chr10:18822424-18822780	H1-neurons	neurons:	n/a	n/a
41	POLR2A	chr10:18819161-18819436	K562	blood:	n/a	n/a
42	POLR2A	chr10:18815358-18815852	K562	blood:	n/a	n/a
43	POLR2A	chr10:18808958-18808971	K562	blood:	n/a	n/a
44	POLR2A	chr10:18806859-18811537	K562	blood:	n/a	n/a
45	POLR2A	chr10:18824104-18824287	K562	blood:	n/a	n/a
46	POLR2A	chr10:18808363-18808368	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr10:18809597-18809942	HepG2	liver:	n/a	n/a
48	POLR2A	chr10:18825734-18826026	K562	blood:	n/a	n/a
49	POLR2A	chr10:18808986-18809056	K562	blood:	n/a	n/a
50	POLR2A	chr10:18811862-18812302	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	chr10:18828340-18828390	ProgFib	skin:	n/a
2	chr10:18828340-18828390	ProgFib	skin:	n/a
3	chr10:18828426-18828476	PANC-1	pancreas:	n/a
4	chr10:18828486-18828536	MCF10A-Er-Src	breast:	n/a
5	chr10:18828340-18828390	BJ	skin:	n/a
6	chr10:18828486-18828536	PrEC	prostate:	n/a
7	chr10:18828426-18828476	HCPEpiC	choroid plexus:	n/a
8	chr10:18828340-18828390	HEK293	kidney:	embryo
9	chr10:18828340-18828390	HCT-116	colon:	n/a
10	chr10:18828340-18828390	MCF-7	breast:	n/a
11	chr10:18828340-18828390	HEEpiC	esophagus:	n/a
12	chr10:18828486-18828536	SK-N-MC	brain:	n/a
13	chr10:18828486-18828536	GM12892	blood:	n/a
14	chr10:18828426-18828476	AG09309	skin:	n/a
15	chr10:18828486-18828536	ProgFib	skin:	n/a
16	chr10:18828426-18828476	HCM	heart:	n/a
17	chr10:18828340-18828390	IMR90	lung:	fetal
18	chr10:18828426-18828476	BE2_C	brain:	n/a
19	chr10:18828486-18828536	HRPEpiC	eye:	n/a
20	chr10:18828486-18828536	HCM	heart:	n/a
21	chr10:18828486-18828536	AG04449	skin:	fetal
22	chr10:18828426-18828476	PFSK-1	brain:	n/a
23	chr10:18828486-18828536	NH-A	brain:	n/a
24	chr10:18828486-18828536	HEEpiC	esophagus:	n/a
25	chr10:18828426-18828476	NT2-D1	testis:	n/a
26	chr10:18828486-18828536	RPTEC	kidney:	n/a
27	chr10:18828426-18828476	LNCaP	prostate:	n/a
28	chr10:18828486-18828536	U87	brain:	n/a
29	chr10:18828486-18828536	K562	blood:	n/a
30	chr10:18828340-18828390	HPAEpiC	pulmonary alveolar:	n/a
31	chr10:18828426-18828476	SK-N-SH_RA	brain:	n/a
32	chr10:18828426-18828476	GM06990	blood:	n/a
33	chr10:18828340-18828390	AG09319	gingival:	n/a
34	chr10:18828426-18828476	HEK293	kidney:	embryo
35	chr10:18828486-18828536	HRCEpiC	kidney:	n/a
36	chr10:18828426-18828476	T-47D	breast:	n/a
37	chr10:18828486-18828536	NHBE	bronchial:	n/a
38	chr10:18828340-18828390	SKMC	muscle:	n/a
39	chr10:18828340-18828390	Caco-2	colon:	n/a
40	chr10:18828426-18828476	A549	lung:	n/a
41	chr10:18828486-18828536	SKMC	muscle:	n/a
42	chr10:18828426-18828476	HUVEC	blood vessel:	n/a
43	chr10:18828486-18828536	HIPEpiC	eye:	n/a
44	chr10:18828426-18828476	RPTEC	kidney:	n/a
45	chr10:18828340-18828390	ovcar-3	ovarian:	n/a
46	chr10:18828426-18828476	GM12878	blood:	n/a
47	chr10:18828426-18828476	HEEpiC	esophagus:	n/a
48	chr10:18828486-18828536	SK-N-SH	brain:	n/a
49	chr10:18828426-18828476	U87	brain:	n/a
50	chr10:18828486-18828536	BE2_C	brain:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr10:18809597..18811635-chr10:18812630..18814429,2	K562	blood:
2	chr10:18809597..18811635-chr10:18812630..18814429,2	K562	blood:
3	chr10:18824996..18829139-chr10:18831210..18835804,4	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NSUN6-1	chr10:18828123-18828228	ENSG00000240291.1
2	lnc-NSUN6-3	chr10:18821966-18822265	ENSG00000225527.1
3	lnc-NSUN6-1	chr10:18830098-18830177	ENSG00000240291.1
4	lnc-NSUN6-1	chr10:18830515-18831106	ENSG00000240291.1
5	lnc-NSUN6-1	chr10:18830998-18831106	ENSG00000240291.1
6	lnc-NSUN6-1	chr10:18833253-18833316	ENSG00000240291.1
7	lnc-NSUN6-1	chr10:18834394-18834580	ENSG00000240291.1
8	lnc-NSUN6-3	chr10:18820778-18820890	ENSG00000225527.1

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	CACNB2	hsa-miR-26b-5p	chr10:18808793-18808814
2	CACNB2	hsa-miR-26b-5p	chr10:18828922-18828928

Variant related genes	Relation type
ENSG00000240291	TF binding region
ENSG00000225527	TF binding region
ENSG00000240291	CpG island
ENSG00000225527	CpG island
ENSG00000240291	chromatin interactions

Extended variants
information (count: 1456 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:1456 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371696965	chr10:18806906-18806907	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs565935580	chr10:18806907-18806908	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539366027	chr10:18806919-18806920	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146185723	chr10:18806964-18806965	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138770732	chr10:18806974-18806975	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577194354	chr10:18807005-18807006	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7910506	chr10:18807057-18807058	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs376819729	chr10:18807084-18807085	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376851574	chr10:18807105-18807106	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111554381	chr10:18807115-18807116	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574601213	chr10:18807121-18807122	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541971660	chr10:18807165-18807166	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560334504	chr10:18807207-18807208	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201541448	chr10:18807223-18807224	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371162914	chr10:18807224-18807225	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141915289	chr10:18807246-18807247	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546215302	chr10:18807250-18807251	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564088001	chr10:18807259-18807260	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200654601	chr10:18807261-18807262	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375425461	chr10:18807278-18807279	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs199908591	chr10:18807282-18807283	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200826317	chr10:18807284-18807285	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs138423466	chr10:18807333-18807334	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370840849	chr10:18807352-18807353	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375657166	chr10:18807380-18807381	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529003860	chr10:18807384-18807385	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs143476953	chr10:18807389-18807390	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547587741	chr10:18807423-18807424	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565914633	chr10:18807441-18807442	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549142228	chr10:18807483-18807484	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539696048	chr10:18807529-18807530	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370915892	chr10:18807553-18807554	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs77157865	chr10:18807563-18807564	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570812180	chr10:18807595-18807596	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150825509	chr10:18807625-18807626	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12356533	chr10:18807644-18807645	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs116484182	chr10:18807668-18807669	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535567500	chr10:18807701-18807702	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111736999	chr10:18807715-18807716	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139278845	chr10:18807719-18807720	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368130674	chr10:18807833-18807834	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149276594	chr10:18807859-18807860	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144509796	chr10:18807862-18807863	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs149586418	chr10:18807868-18807869	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375029614	chr10:18807896-18807897	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144304963	chr10:18807909-18807910	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs367602928	chr10:18807913-18807914	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564669940	chr10:18807924-18807925	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368736404	chr10:18807951-18807952	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576686707	chr10:18807966-18807967	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:41)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	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
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal cancer	21851588	CNVD
Intracranial aneurysm	16715129	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	16616336	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	22083797	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Olfactory neuroblastoma	18408657	CNVD

Chromatin state (count:678 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:18776200-18809400	Weak transcription	Right Ventricle	heart
2	chr10:18776200-18812200	Weak transcription	Right Atrium	heart
3	chr10:18778600-18818200	Weak transcription	Fetal Intestine Small	intestine
4	chr10:18785400-18808400	Weak transcription	Colon Smooth Muscle	Colon
5	chr10:18787400-18807400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr10:18787400-18808200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr10:18787400-18810200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr10:18788200-18808400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr10:18788200-18809600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr10:18789800-18807800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr10:18791000-18807200	Weak transcription	Brain Anterior Caudate	brain
12	chr10:18792400-18825400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr10:18794000-18818400	Weak transcription	Fetal Brain Male	brain
14	chr10:18795000-18807200	Weak transcription	Aorta	Aorta
15	chr10:18799800-18825200	Weak transcription	Colonic Mucosa	Colon
16	chr10:18800200-18826800	Weak transcription	Brain Substantia Nigra	brain
17	chr10:18800400-18827000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr10:18800800-18818800	Weak transcription	Brain Germinal Matrix	brain
19	chr10:18800800-18819400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr10:18801000-18818800	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr10:18801200-18809800	Weak transcription	Brain Angular Gyrus	brain
22	chr10:18802000-18825000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr10:18802400-18808400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr10:18802400-18809600	Weak transcription	Liver	Liver
25	chr10:18802600-18807800	Weak transcription	Fetal Stomach	stomach
26	chr10:18802600-18809200	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr10:18802600-18828000	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr10:18802600-18828200	Weak transcription	Lung	lung
29	chr10:18802800-18809400	Weak transcription	Pancreas	Pancrea
30	chr10:18803000-18807400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr10:18803400-18807200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr10:18803600-18807200	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr10:18803600-18807200	Weak transcription	Stomach Smooth Muscle	stomach
34	chr10:18803600-18808600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr10:18803600-18808800	Weak transcription	Fetal Intestine Large	intestine
36	chr10:18803600-18809600	Weak transcription	Rectal Smooth Muscle	rectum
37	chr10:18803600-18810000	Weak transcription	Brain Cingulate Gyrus	brain
38	chr10:18803800-18809600	Weak transcription	Fetal Heart	heart
39	chr10:18804400-18807200	Weak transcription	Ovary	ovary
40	chr10:18804800-18807800	Weak transcription	Fetal Lung	lung
41	chr10:18804800-18808000	Weak transcription	Left Ventricle	heart
42	chr10:18805400-18807200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr10:18806800-18811200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr10:18807200-18807400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr10:18807200-18807600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr10:18807200-18807600	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr10:18807200-18807600	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr10:18807200-18808200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr10:18807200-18809400	Strong transcription	Brain Anterior Caudate	brain
50	chr10:18807200-18810600	Strong transcription	Aorta	Aorta

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