Variant report

Variant	nsv491852
Chromosome Location	chrX:154974667-155208354
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	ARID3A	chrX:154996976-154997295	K562	blood:	n/a	n/a
2	ARID3A	chrX:154975527-154975836	K562	blood:	n/a	n/a
3	ATF2	chrX:155110700-155111118	GM12878	blood:	n/a	n/a
4	ATF2	chrX:155106295-155106691	GM12878	blood:	n/a	n/a
5	ATF3	chrX:155110793-155111031	K562	blood:	n/a	n/a
6	ATF3	chrX:155049846-155050087	K562	blood:	n/a	n/a
7	ATF3	chrX:155049878-155050047	K562	blood:	n/a	n/a
8	ATF3	chrX:155049810-155050080	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF3	chrX:155117821-155118206	K562	blood:	n/a	n/a
10	ATF3	chrX:155117896-155118116	K562	blood:	n/a	n/a
11	BCLAF1	chrX:155110620-155111034	GM12878	blood:	n/a	n/a
12	BCLAF1	chrX:155110613-155111149	GM12878	blood:	n/a	chrX:155111130-155111143
13	BHLHE40	chrX:154975442-154975772	K562	blood:	n/a	n/a
14	BHLHE40	chrX:154997079-154997133	K562	blood:	n/a	n/a
15	BRCA1	chrX:154996864-154997304	Hela-S3	cervix:	n/a	n/a
16	CBX3	chrX:155097474-155097882	K562	blood:	n/a	n/a
17	CBX3	chrX:155110478-155111375	K562	blood:	n/a	n/a
18	CBX3	chrX:155193995-155194178	K562	blood:	n/a	n/a
19	CBX3	chrX:155157333-155157707	K562	blood:	n/a	n/a
20	CBX3	chrX:155097539-155097798	K562	blood:	n/a	n/a
21	CBX3	chrX:155117729-155118210	HCT-116	colon:	n/a	n/a
22	CBX3	chrX:155193867-155194177	K562	blood:	n/a	n/a
23	CBX3	chrX:155197896-155198446	K562	blood:	n/a	n/a
24	CBX3	chrX:155117763-155118332	HCT-116	colon:	n/a	n/a
25	CEBPB	chrX:154977282-154977613	ECC-1	luminal epithelium:	n/a	n/a
26	CEBPB	chrX:154977169-154977580	ECC-1	luminal epithelium:	n/a	n/a
27	CEBPB	chrX:155008478-155008899	MCF-7	breast:	n/a	n/a
28	CEBPB	chrX:154975317-154975850	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chrX:154977314-154977417	K562	blood:	n/a	n/a
30	CEBPB	chrX:154998078-154998477	A549	lung:	n/a	chrX:154998258-154998271 chrX:154998258-154998269
31	CEBPB	chrX:154998108-154998472	Hela-S3	cervix:	n/a	chrX:154998258-154998271 chrX:154998258-154998269
32	CEBPB	chrX:155049796-155050155	MCF-7	breast:	n/a	n/a
33	CEBPB	chrX:154996507-154997170	Hela-S3	cervix:	n/a	n/a
34	CEBPB	chrX:154998136-154998445	HepG2	liver:	n/a	chrX:154998258-154998271 chrX:154998258-154998269
35	CEBPB	chrX:155008503-155008956	MCF-7	breast:	n/a	n/a
36	CEBPB	chrX:154977178-154977591	Hela-S3	cervix:	n/a	n/a
37	CEBPB	chrX:154998099-154998478	IMR90	lung:	n/a	chrX:154998258-154998271 chrX:154998258-154998269
38	CEBPB	chrX:154996928-154997103	IMR90	lung:	n/a	n/a
39	CEBPB	chrX:154998121-154998506	MCF-7	breast:	n/a	chrX:154998258-154998271 chrX:154998258-154998269
40	CEBPD	chrX:155110955-155111174	HepG2	liver:	n/a	n/a
41	CHD2	chrX:154975613-154975743	K562	blood:	n/a	n/a
42	CHD2	chrX:154997004-154997475	H1-hESC	embryonic stem cell:	n/a	n/a
43	CHD2	chrX:154996669-154997437	Hela-S3	cervix:	n/a	chrX:154996886-154996896
44	CHD2	chrX:154996956-154997273	K562	blood:	n/a	n/a
45	CREB1	chrX:155102854-155103248	K562	blood:	n/a	n/a
46	CREB1	chrX:155110727-155111073	A549	lung:	n/a	n/a
47	CREB1	chrX:155110706-155111718	H1-hESC	embryonic stem cell:	n/a	chrX:155111461-155111474
48	CREB1	chrX:155110661-155111229	A549	lung:	n/a	n/a
49	CREB1	chrX:155110712-155111544	HepG2	liver:	n/a	chrX:155111461-155111474
50	CREB1	chrX:155110728-155111031	ECC-1	luminal epithelium:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMLHE-3	chrX:155058248-155059239	NONHSAT139246
2	lnc-VAMP7-2	chrX:155105299-155105548	NONHSAT139247

No.	miRNA target gene	miRNA name	Chromosome Location
1	VAMP7	hsa-miR-1	chrX:155173195-155173215
2	VAMP7	hsa-miR-26b-5p	chrX:155172667-155172687
3	VAMP7	hsa-miR-93-5p	chrX:155172890-155172912
4	SPRY3	hsa-miR-320a	chrX:155004589-155004612

Variant related genes	Relation type
AMDP1	TF binding region
VAMP7	TF binding region
SPRY3	TF binding region
DPH3P2	TF binding region

Extended variants
information (count: 2308 )
Associated
traits (count: 1 )

Variant overlapped rSNPs/rCNVs (count:2308 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144759332	chrX:154974730-154974731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs189645478	chrX:154974760-154974761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148283325	chrX:154974891-154974892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs141344766	chrX:154974922-154974923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs181126325	chrX:154974970-154974971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs375895946	chrX:154975136-154975137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184710702	chrX:154975427-154975428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs28512393	chrX:154975433-154975434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189029395	chrX:154975438-154975439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs369517903	chrX:154975597-154975598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs35301922	chrX:154975825-154975826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs370235763	chrX:154975829-154975830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs202053721	chrX:154975833-154975834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182030507	chrX:154975841-154975842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs28638224	chrX:154975880-154975881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs192162224	chrX:154975881-154975882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs373576770	chrX:154975939-154975940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs540509556	chrX:154975962-154975963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs495324	chrX:154976059-154976060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs180904637	chrX:154976061-154976062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs185915558	chrX:154976121-154976122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs191184308	chrX:154976262-154976263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182522185	chrX:154976336-154976337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs538281959	chrX:154976346-154976347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs372073254	chrX:154976370-154976371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs187518071	chrX:154976413-154976414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs190449149	chrX:154976422-154976423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs183393787	chrX:154976551-154976552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188865830	chrX:154976663-154976664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs142960900	chrX:154976664-154976665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs147488634	chrX:154976762-154976763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs139951974	chrX:154976846-154976847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs6642234	chrX:154976881-154976882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs369175599	chrX:154976887-154976888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375478485	chrX:154976940-154976941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs306899	chrX:154976950-154976951	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs184390505	chrX:154977075-154977076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs187693322	chrX:154977216-154977217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs306898	chrX:154977261-154977262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191909943	chrX:154977378-154977379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs306897	chrX:154977448-154977449	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs184102329	chrX:154977467-154977468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528438922	chrX:154977523-154977524	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189179492	chrX:154977605-154977606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs181669609	chrX:154977641-154977642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs546915434	chrX:154977760-154977761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs142460789	chrX:154977896-154977897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs369998787	chrX:154977970-154977971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs568300727	chrX:154978040-154978041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185132080	chrX:154978085-154978086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:1)

Disease	PMID	Source
Olfactory neuroblastoma	18408657	CNVD

Chromatin state (count:2072 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:154973600-154975400	Enhancers	Stomach Mucosa	stomach
2	chrX:154973800-154974800	Weak transcription	Fetal Intestine Large	intestine
3	chrX:154973800-154975200	Enhancers	Right Atrium	heart
4	chrX:154974000-154978000	Enhancers	Hela-S3	cervix
5	chrX:154974200-154985000	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chrX:154974400-154975000	Weak transcription	Left Ventricle	heart
7	chrX:154974400-154975400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chrX:154974400-154975800	Enhancers	Fetal Heart	heart
9	chrX:154974400-154976400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chrX:154974400-154976600	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chrX:154974400-154985000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chrX:154974600-154974800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chrX:154974600-154975000	Weak transcription	Psoas Muscle	Psoas
14	chrX:154974600-154975400	Weak transcription	Aorta	Aorta
15	chrX:154974600-154975800	Enhancers	Adipose Nuclei	Adipose
16	chrX:154974800-154975800	Enhancers	Duodenum Mucosa	Duodenum
17	chrX:154974800-154975800	Enhancers	Fetal Intestine Large	intestine
18	chrX:154974800-154977200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chrX:154975000-154975200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chrX:154975000-154975200	Enhancers	Psoas Muscle	Psoas
21	chrX:154975000-154975800	Enhancers	Left Ventricle	heart
22	chrX:154975200-154975600	Enhancers	Brain Substantia Nigra	brain
23	chrX:154975200-154977000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chrX:154975200-154981000	Weak transcription	Psoas Muscle	Psoas
25	chrX:154975400-154975600	Enhancers	Aorta	Aorta
26	chrX:154975400-154975600	Enhancers	HUVEC	blood vessel
27	chrX:154975400-154975800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chrX:154975400-154975800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chrX:154975400-154975800	Enhancers	A549	lung
30	chrX:154975400-154976600	Enhancers	K562	blood
31	chrX:154975800-154977000	Weak transcription	Adipose Nuclei	Adipose
32	chrX:154976400-154976600	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chrX:154976600-154977400	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chrX:154977000-154977400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chrX:154977200-154977400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chrX:154977200-154977400	Enhancers	Adipose Nuclei	Adipose
37	chrX:154977200-154977600	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chrX:154977200-154977600	Enhancers	HUVEC	blood vessel
39	chrX:154977400-154977600	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chrX:154981000-154981200	Enhancers	Psoas Muscle	Psoas
41	chrX:154983200-154983800	Enhancers	Hela-S3	cervix
42	chrX:154984600-154986400	Enhancers	Fetal Heart	heart
43	chrX:154985000-154987000	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chrX:154985000-154987000	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chrX:154988000-154988400	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chrX:154990400-154990600	Flanking Bivalent TSS/Enh	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chrX:154993200-154996400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chrX:154994600-154996200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chrX:154994600-154996400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chrX:154994800-154995400	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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