Variant report

Variant	nsv534220
Chromosome Location	chrX:154929220-155251871
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1616)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:4)

(count:1616 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chrX:154975527-154975836	K562	blood:	n/a	n/a
2	ARID3A	chrX:154996976-154997295	K562	blood:	n/a	n/a
3	ATF2	chrX:155106295-155106691	GM12878	blood:	n/a	n/a
4	ATF2	chrX:155110700-155111118	GM12878	blood:	n/a	n/a
5	ATF3	chrX:155049846-155050087	K562	blood:	n/a	n/a
6	ATF3	chrX:155049878-155050047	K562	blood:	n/a	n/a
7	ATF3	chrX:155049810-155050080	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF3	chrX:155110793-155111031	K562	blood:	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	BATF	chrX:155242994-155243176	GM12878	blood:	n/a	n/a
12	BCL11A	chrX:155242888-155243320	GM12878	blood:	n/a	n/a
13	BCL11A	chrX:155250650-155250847	GM12878	blood:	n/a	n/a
14	BCL11A	chrX:155249995-155250209	GM12878	blood:	n/a	n/a
15	BCL11A	chrX:155242825-155243295	GM12878	blood:	n/a	n/a
16	BCL11A	chrX:155250612-155250978	GM12878	blood:	n/a	n/a
17	BCL11A	chrX:155238509-155238745	GM12878	blood:	n/a	n/a
18	BCLAF1	chrX:155110620-155111034	GM12878	blood:	n/a	n/a
19	BCLAF1	chrX:155110613-155111149	GM12878	blood:	n/a	chrX:155111130-155111143
20	BHLHE40	chrX:155249848-155250188	HepG2	liver:	n/a	n/a
21	BHLHE40	chrX:154997079-154997133	K562	blood:	n/a	n/a
22	BHLHE40	chrX:154974371-154974416	K562	blood:	n/a	n/a
23	BHLHE40	chrX:154975442-154975772	K562	blood:	n/a	n/a
24	BRCA1	chrX:154996864-154997304	Hela-S3	cervix:	n/a	n/a
25	CBX3	chrX:155110478-155111375	K562	blood:	n/a	n/a
26	CBX3	chrX:155193867-155194177	K562	blood:	n/a	n/a
27	CBX3	chrX:155117729-155118210	HCT-116	colon:	n/a	n/a
28	CBX3	chrX:155249365-155249751	K562	blood:	n/a	n/a
29	CBX3	chrX:155232090-155232579	K562	blood:	n/a	n/a
30	CBX3	chrX:155157333-155157707	K562	blood:	n/a	n/a
31	CBX3	chrX:155193995-155194178	K562	blood:	n/a	n/a
32	CBX3	chrX:155117763-155118332	HCT-116	colon:	n/a	n/a
33	CBX3	chrX:155213419-155213617	K562	blood:	n/a	n/a
34	CBX3	chrX:155213383-155213699	K562	blood:	n/a	n/a
35	CBX3	chrX:154970062-154970345	K562	blood:	n/a	n/a
36	CBX3	chrX:155097539-155097798	K562	blood:	n/a	n/a
37	CBX3	chrX:155197896-155198446	K562	blood:	n/a	n/a
38	CBX3	chrX:155246124-155246664	K562	blood:	n/a	n/a
39	CBX3	chrX:155097474-155097882	K562	blood:	n/a	n/a
40	CBX3	chrX:155227022-155227398	K562	blood:	n/a	n/a
41	CEBPB	chrX:154998136-154998445	HepG2	liver:	n/a	chrX:154998258-154998271 chrX:154998258-154998269
42	CEBPB	chrX:154998078-154998477	A549	lung:	n/a	chrX:154998258-154998271 chrX:154998258-154998269
43	CEBPB	chrX:154959881-154960167	A549	lung:	n/a	n/a
44	CEBPB	chrX:154977169-154977580	ECC-1	luminal epithelium:	n/a	n/a
45	CEBPB	chrX:155242840-155243392	GM12878	blood:	n/a	n/a
46	CEBPB	chrX:154996507-154997170	Hela-S3	cervix:	n/a	n/a
47	CEBPB	chrX:154998108-154998472	Hela-S3	cervix:	n/a	chrX:154998258-154998271 chrX:154998258-154998269
48	CEBPB	chrX:155223210-155223405	HepG2	liver:	n/a	n/a
49	CEBPB	chrX:155245820-155246007	K562	blood:	n/a	n/a
50	CEBPB	chrX:155223148-155223493	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMLHE-3	chrX:155058248-155059239	NONHSAT139246
2	lnc-TMLHE-4	chrX:155208657-155208990	NONHSAT139249
3	lnc-WASH6P-1	chrX:155230995-155231173	NONHSAT139250
4	lnc-WASH6P-1	chrX:155227399-155227452	NONHSAT139250
5	lnc-WASH6P-1	chrX:155232571-155232635	NONHSAT139250
6	lnc-VAMP7-2	chrX:155105299-155105548	NONHSAT139247

No data

(count:4 , 50 per page) page: 1

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

Variant related genes	Relation type
AMDP1	TF binding region
IL9R	TF binding region
TCEB1P24	TF binding region
VAMP7	TF binding region
WASH6P	TF binding region
TRPC6P	TF binding region
ENSG00000270726	TF binding region
WASIR1	TF binding region
SPRY3	TF binding region
DPH3P2	TF binding region

Extended variants
information (count: 2994 )
Associated
traits (count: 2 )

Variant overlapped rSNPs/rCNVs (count:2994 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147857855	chrX:154944435-154944436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs141422107	chrX:154944453-154944454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs113711373	chrX:154944509-154944510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs368160466	chrX:154944534-154944535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs113147559	chrX:154944624-154944625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189417461	chrX:154944730-154944731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192364910	chrX:154944734-154944735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs183652689	chrX:154944824-154944825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs34922585	chrX:154944884-154944885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs28860007	chrX:154944904-154944905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188987612	chrX:154944922-154944923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs374747065	chrX:154944935-154944936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs4099490	chrX:154944936-154944937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs139033328	chrX:154945263-154945264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181593713	chrX:154945335-154945336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs186289258	chrX:154945337-154945338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs149339497	chrX:154945395-154945396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs190347093	chrX:154945398-154945399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs113986727	chrX:154945434-154945435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs143717424	chrX:154945494-154945495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs185953703	chrX:154945797-154945798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs28513773	chrX:154947427-154947428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs184337797	chrX:154947430-154947431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs188735323	chrX:154947456-154947457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs181113310	chrX:154947466-154947467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs367856860	chrX:154947540-154947541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs35670905	chrX:154948424-154948425	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs187123137	chrX:154948503-154948504	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs191148439	chrX:154948653-154948654	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs180962246	chrX:154948735-154948736	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs306935	chrX:154948754-154948755	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs372051566	chrX:154948813-154948814	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs185957084	chrX:154948816-154948817	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs190146594	chrX:154948863-154948864	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs182380964	chrX:154948901-154948902	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs375596423	chrX:154949028-154949029	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs35727403	chrX:154949071-154949072	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs187530593	chrX:154949137-154949138	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs190465443	chrX:154949183-154949184	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs184162342	chrX:154949226-154949227	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs34263452	chrX:154949259-154949260	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs145301177	chrX:154949427-154949428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs188864216	chrX:154949523-154949524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs151000645	chrX:154949530-154949531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs306934	chrX:154949547-154949548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs184383642	chrX:154949636-154949637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs555165345	chrX:154949716-154949717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs555652	chrX:154949749-154949750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs186601869	chrX:154949757-154949758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs369251205	chrX:154949769-154949770	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:2)

Disease	PMID	Source
Olfactory neuroblastoma	18408657	CNVD
Hereditary coagulopathy	21993689	CNVD

Chromatin state (count:2330 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:154944400-154945400	Enhancers	NHEK	skin
2	chrX:154944600-154945600	Enhancers	Hela-S3	cervix
3	chrX:154944600-154945800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chrX:154944800-154945600	Enhancers	Fetal Thymus	thymus
5	chrX:154947400-154947600	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chrX:154948400-154948800	Active TSS	Skeletal Muscle Male	skeletal muscle
7	chrX:154948400-154948800	Active TSS	Skeletal Muscle Female	skeletal muscle
8	chrX:154948400-154949200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chrX:154948400-154949200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chrX:154948400-154949200	Enhancers	Stomach Smooth Muscle	stomach
11	chrX:154948400-154949400	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chrX:154948600-154949000	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chrX:154948600-154949000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chrX:154948600-154949200	Enhancers	HSMMtube	muscle
15	chrX:154948600-154949600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chrX:154948600-154950200	Enhancers	Right Ventricle	heart
17	chrX:154948800-154949000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
18	chrX:154948800-154949200	Enhancers	Fetal Heart	heart
19	chrX:154948800-154949200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
20	chrX:154948800-154949400	Enhancers	Primary B cells from peripheral blood	blood
21	chrX:154948800-154949400	Enhancers	Aorta	Aorta
22	chrX:154948800-154949600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chrX:154948800-154949600	Enhancers	Left Ventricle	heart
24	chrX:154949000-154949200	Active TSS	Skeletal Muscle Male	skeletal muscle
25	chrX:154949200-154949400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
26	chrX:154949200-154949600	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chrX:154949400-154949600	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chrX:154958000-154958400	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chrX:154958200-154958400	Enhancers	Gastric	stomach
30	chrX:154961000-154962600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chrX:154961000-154962600	Active TSS	Ovary	ovary
32	chrX:154961200-154962200	Active TSS	Aorta	Aorta
33	chrX:154961400-154961800	Active TSS	Adipose Nuclei	Adipose
34	chrX:154961400-154961800	Active TSS	Duodenum Smooth Muscle	Duodenum
35	chrX:154961400-154962000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chrX:154961400-154962000	Active TSS	Right Atrium	heart
37	chrX:154962000-154962200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chrX:154962200-154962400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chrX:154962200-154962600	Enhancers	Fetal Heart	heart
40	chrX:154962200-154963200	Weak transcription	Aorta	Aorta
41	chrX:154962400-154962600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chrX:154963200-154963400	Enhancers	Aorta	Aorta
43	chrX:154963400-154963800	Enhancers	Stomach Mucosa	stomach
44	chrX:154963400-154964000	Weak transcription	Aorta	Aorta
45	chrX:154963600-154964000	Enhancers	H1 Cell Line	embryonic stem cell
46	chrX:154969000-154973000	Weak transcription	Psoas Muscle	Psoas
47	chrX:154969000-154974000	Weak transcription	Aorta	Aorta
48	chrX:154973000-154973200	Enhancers	Psoas Muscle	Psoas
49	chrX:154973000-154974400	Enhancers	Ovary	ovary
50	chrX:154973200-154974000	Weak transcription	Psoas Muscle	Psoas

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