Variant report

Variant	nsv894914
Chromosome Location	chr10:18301221-18335200
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	BATF	chr10:18332607-18332876	GM12878	blood:	n/a	chr10:18332746-18332757
2	BATF	chr10:18332633-18332897	GM12878	blood:	n/a	chr10:18332746-18332757
3	CEBPB	chr10:18326063-18326312	K562	blood:	n/a	n/a
4	CEBPB	chr10:18334251-18334744	IMR90	lung:	n/a	n/a
5	CEBPB	chr10:18326030-18326316	IMR90	lung:	n/a	n/a
6	CEBPB	chr10:18311055-18311497	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr10:18334320-18334690	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr10:18302522-18302578	ProgFib	skin:	n/a	n/a
9	CTCF	chr10:18318643-18318692	GM13976	blood:	n/a	n/a
10	CTCF	chr10:18325020-18325087	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr10:18325060-18325210	HEK293	kidney:	n/a	n/a
12	CUX1	chr10:18326162-18326316	K562	blood:	n/a	chr10:18326169-18326180
13	E2F4	chr10:18331938-18332354	MCF10A-Er-Src	breast:	n/a	n/a
14	E2F4	chr10:18303179-18303429	MCF10A-Er-Src	breast:	n/a	n/a
15	EBF1	chr10:18334076-18334386	GM12878	blood:	n/a	chr10:18334190-18334200 chr10:18334189-18334200
16	EP300	chr10:18332709-18332711	GM12878	blood:	n/a	n/a
17	EP300	chr10:18311091-18311557	Hela-S3	cervix:	n/a	n/a
18	FOS	chr10:18304918-18305080	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr10:18334402-18334603	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr10:18309591-18309762	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr10:18311011-18311355	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr10:18332717-18332788	MCF10A-Er-Src	breast:	n/a	chr10:18332751-18332762 chr10:18332749-18332758 chr10:18332750-18332758 chr10:18332750-18332757
23	FOS	chr10:18332691-18332855	MCF10A-Er-Src	breast:	n/a	chr10:18332792-18332800 chr10:18332751-18332762 chr10:18332749-18332758 chr10:18332750-18332758 chr10:18332750-18332757
24	FOS	chr10:18334355-18334631	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr10:18332622-18332892	MCF10A-Er-Src	breast:	n/a	chr10:18332792-18332800 chr10:18332751-18332762 chr10:18332749-18332758 chr10:18332750-18332758 chr10:18332750-18332757
26	FOS	chr10:18334330-18334631	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr10:18332082-18332901	MCF10A-Er-Src	breast:	n/a	chr10:18332257-18332264 chr10:18332792-18332800 chr10:18332255-18332265 chr10:18332751-18332762 chr10:18332256-18332264 chr10:18332255-18332265 chr10:18332749-18332758 chr10:18332255-18332265 chr10:18332750-18332758 chr10:18332256-18332264 chr10:18332255-18332265 chr10:18332750-18332757
28	FOS	chr10:18311013-18311351	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr10:18331538-18331707	MCF10A-Er-Src	breast:	n/a	n/a
30	FOS	chr10:18332115-18332442	MCF10A-Er-Src	breast:	n/a	chr10:18332257-18332264 chr10:18332255-18332265 chr10:18332256-18332264 chr10:18332255-18332265 chr10:18332255-18332265 chr10:18332256-18332264 chr10:18332255-18332265
31	FOS	chr10:18332080-18332415	MCF10A-Er-Src	breast:	n/a	chr10:18332257-18332264 chr10:18332255-18332265 chr10:18332256-18332264 chr10:18332255-18332265 chr10:18332255-18332265 chr10:18332256-18332264 chr10:18332255-18332265
32	FOS	chr10:18311012-18311352	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr10:18311004-18311353	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr10:18334323-18334653	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr10:18332079-18332415	MCF10A-Er-Src	breast:	n/a	chr10:18332257-18332264 chr10:18332255-18332265 chr10:18332256-18332264 chr10:18332255-18332265 chr10:18332255-18332265 chr10:18332256-18332264 chr10:18332255-18332265
36	FOSL2	chr10:18310955-18311378	A549	lung:	n/a	n/a
37	FOXA2	chr10:18324843-18325390	A549	lung:	n/a	n/a
38	FOXA2	chr10:18325022-18325355	A549	lung:	n/a	n/a
39	GATA3	chr10:18310968-18311502	A549	lung:	n/a	chr10:18311201-18311209
40	GATA3	chr10:18310898-18311457	SK-N-SH	brain:	n/a	chr10:18311201-18311209
41	GATA3	chr10:18310956-18311493	SK-N-SH	brain:	n/a	chr10:18311201-18311209
42	GATA3	chr10:18310963-18311422	MCF-7	breast:	n/a	chr10:18311201-18311209
43	IRF1	chr10:18306665-18306724	K562	blood:	n/a	n/a
44	JUND	chr10:18311096-18311271	HepG2	liver:	n/a	chr10:18311188-18311199
45	JUND	chr10:18311087-18311276	K562	blood:	n/a	chr10:18311188-18311199
46	JUND	chr10:18311038-18311348	Hela-S3	cervix:	n/a	chr10:18311188-18311199
47	KAP1	chr10:18310811-18311089	U2OS	brain:	n/a	n/a
48	KAP1	chr10:18310652-18311131	HEK293	kidney:	n/a	n/a
49	MAFK	chr10:18332201-18332503	IMR90	lung:	n/a	chr10:18332347-18332361 chr10:18332349-18332360 chr10:18332344-18332360 chr10:18332254-18332264 chr10:18332348-18332359
50	MAX	chr10:18333972-18334293	NB4	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:18331664-18331714	A549	lung:	n/a
2	chr10:18334434-18334484	BJ	skin:	n/a
3	chr10:18334434-18334484	HNPCEpiC	eye:	n/a
4	chr10:18331664-18331714	LNCaP	prostate:	n/a
5	chr10:18331664-18331714	HCF	heart:	n/a
6	chr10:18331664-18331714	K562	blood:	n/a
7	chr10:18331664-18331714	SK-N-SH_RA	brain:	n/a
8	chr10:18331664-18331714	PrEC	prostate:	n/a
9	chr10:18334434-18334484	HL-60	blood:	n/a
10	chr10:18331664-18331714	HEK293	kidney:	embryo
11	chr10:18334434-18334484	HCM	heart:	n/a
12	chr10:18331664-18331714	AG04449	skin:	fetal
13	chr10:18331664-18331714	Hepatocyte	liver:	n/a
14	chr10:18331664-18331714	SK-N-MC	brain:	n/a
15	chr10:18334434-18334484	AoSMC	blood vessel:	n/a
16	chr10:18331664-18331714	IMR90	lung:	fetal
17	chr10:18331664-18331714	GM12892	blood:	n/a
18	chr10:18334434-18334484	NHDF-neo	bronchial:	n/a
19	chr10:18334434-18334484	MCF10A-Er-Src	breast:	n/a
20	chr10:18334434-18334484	HRE	kidney:	n/a
21	chr10:18334434-18334484	Hela-S3	cervix:	n/a
22	chr10:18334434-18334484	MCF-7	breast:	n/a
23	chr10:18334434-18334484	AG04450	lung:	fetal
24	chr10:18334434-18334484	SKMC	muscle:	n/a
25	chr10:18331664-18331714	MCF10A-Er-Src	breast:	n/a
26	chr10:18331664-18331714	U87	brain:	n/a
27	chr10:18331664-18331714	HRCEpiC	kidney:	n/a
28	chr10:18331664-18331714	HAEpiC	amniotic membrane:	n/a
29	chr10:18331664-18331714	HEEpiC	esophagus:	n/a
30	chr10:18334434-18334484	HPAEpiC	pulmonary alveolar:	n/a
31	chr10:18334434-18334484	BE2_C	brain:	n/a
32	chr10:18334434-18334484	GM06990	blood:	n/a
33	chr10:18331664-18331714	HepG2	liver:	n/a
34	chr10:18331664-18331714	SK-N-SH	brain:	n/a
35	chr10:18331664-18331714	HNPCEpiC	eye:	n/a
36	chr10:18331664-18331714	NHDF-neo	bronchial:	n/a
37	chr10:18334434-18334484	NB4	blood:	n/a
38	chr10:18334434-18334484	NT2-D1	testis:	n/a
39	chr10:18331664-18331714	AG10803	skin:	n/a
40	chr10:18334434-18334484	Caco-2	colon:	n/a
41	chr10:18331664-18331714	HCPEpiC	choroid plexus:	n/a
42	chr10:18331664-18331714	HUVEC	blood vessel:	n/a
43	chr10:18334434-18334484	ECC-1	luminal epithelium:	n/a
44	chr10:18334434-18334484	SK-N-SH_RA	brain:	n/a
45	chr10:18334434-18334484	HAEpiC	amniotic membrane:	n/a
46	chr10:18331664-18331714	HCT-116	colon:	n/a
47	chr10:18331664-18331714	AG09309	skin:	n/a
48	chr10:18334434-18334484	GM12891	blood:	n/a
49	chr10:18334434-18334484	SAEC	small airway:	n/a
50	chr10:18331664-18331714	HRPEpiC	eye:	n/a

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	SLC39A12	hsa-miR-335-5p	chr10:18331977-18331999

Variant related genes	Relation type
SLC39A12-AS1	TF binding region
SLC39A12-AS1	CpG island

Extended variants
information (count: 766 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:766 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548790019	chr10:18302531-18302532	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs577376066	chr10:18302542-18302543	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs544716905	chr10:18302553-18302554	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs149313443	chr10:18303255-18303256	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs542660595	chr10:18303305-18303306	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs560731974	chr10:18303311-18303312	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs528056441	chr10:18303333-18303334	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs540951192	chr10:18303338-18303339	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs576007475	chr10:18303358-18303359	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs555910193	chr10:18303390-18303391	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs532870441	chr10:18309404-18309405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546462002	chr10:18309442-18309443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189957689	chr10:18309473-18309474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs138645887	chr10:18309477-18309478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536585152	chr10:18309502-18309503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs141657637	chr10:18309538-18309539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575347400	chr10:18309605-18309606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146209650	chr10:18309633-18309634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs137938028	chr10:18309649-18309650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572844309	chr10:18309654-18309655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs149457240	chr10:18309685-18309686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs144862159	chr10:18309739-18309740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs181135489	chr10:18309783-18309784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs544829439	chr10:18309795-18309796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs562936196	chr10:18309800-18309801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs183666120	chr10:18309802-18309803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs370189436	chr10:18309849-18309850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548235446	chr10:18309878-18309879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs560137586	chr10:18309941-18309942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs148588441	chr10:18309968-18309969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs12356631	chr10:18310014-18310015	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs571559396	chr10:18310031-18310032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs199574561	chr10:18310066-18310067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs538556542	chr10:18310075-18310076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs559065633	chr10:18310080-18310081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs188044563	chr10:18310122-18310123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs568920147	chr10:18310136-18310137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs181892827	chr10:18310166-18310167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554674307	chr10:18310208-18310209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs72780027	chr10:18310260-18310261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs533801941	chr10:18310308-18310309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs558575913	chr10:18310324-18310325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs187220968	chr10:18310329-18310330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs544531405	chr10:18310357-18310358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs556723972	chr10:18310359-18310360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs144049590	chr10:18310360-18310361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs370258313	chr10:18310367-18310368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs191938468	chr10:18310403-18310404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs182194291	chr10:18310433-18310434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534710595	chr10:18310478-18310479	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:40)

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
Colorectal cancer	19287155	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

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:18309400-18310000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr10:18310000-18311000	Enhancers	NHEK	skin
3	chr10:18310600-18312800	Enhancers	Hela-S3	cervix
4	chr10:18311600-18312800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr10:18312000-18313000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr10:18319200-18319400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr10:18325200-18325600	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr10:18325200-18325600	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr10:18325600-18333600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr10:18329800-18330000	Enhancers	Aorta	Aorta
11	chr10:18330000-18333400	Weak transcription	Aorta	Aorta
12	chr10:18331000-18331400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr10:18331000-18331400	Enhancers	Ovary	ovary
14	chr10:18331000-18331600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr10:18331200-18331400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr10:18331200-18331600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr10:18331200-18332800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr10:18331200-18335200	Enhancers	NH-A	brain
19	chr10:18331400-18332200	Weak transcription	Ovary	ovary
20	chr10:18331400-18332800	Enhancers	Hela-S3	cervix
21	chr10:18331400-18335200	Enhancers	Osteobl	bone
22	chr10:18331600-18332400	Enhancers	NHLF	lung
23	chr10:18331600-18334200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr10:18331600-18348800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr10:18331800-18333000	Enhancers	Muscle Satellite Cultured Cells	--
26	chr10:18332200-18332400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr10:18332200-18332600	Enhancers	Ovary	ovary
28	chr10:18332400-18333400	Weak transcription	NHLF	lung
29	chr10:18332600-18332800	Weak transcription	Ovary	ovary
30	chr10:18332800-18333200	Enhancers	Ovary	ovary
31	chr10:18332800-18333200	Weak transcription	Hela-S3	cervix
32	chr10:18332800-18333400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr10:18332800-18333800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr10:18333000-18334000	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr10:18333200-18335000	Enhancers	Hela-S3	cervix
36	chr10:18333400-18333600	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr10:18333400-18333600	ZNF genes & repeats	Aorta	Aorta
38	chr10:18333400-18334200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr10:18333400-18334600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr10:18333400-18335200	Enhancers	NHLF	lung
41	chr10:18333400-18335600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr10:18333600-18333800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr10:18333600-18334400	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr10:18333600-18334400	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr10:18333600-18337000	Weak transcription	Aorta	Aorta
46	chr10:18333800-18334000	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr10:18333800-18334200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr10:18333800-18334400	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr10:18333800-18334600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr10:18333800-18334600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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