Variant report

Variant	nsv868959
Chromosome Location	chrX:155074305-155232907
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	ATF2	chrX:155110700-155111118	GM12878	blood:	n/a	n/a
2	ATF2	chrX:155106295-155106691	GM12878	blood:	n/a	n/a
3	ATF3	chrX:155117821-155118206	K562	blood:	n/a	n/a
4	ATF3	chrX:155110793-155111031	K562	blood:	n/a	n/a
5	ATF3	chrX:155117896-155118116	K562	blood:	n/a	n/a
6	BCLAF1	chrX:155110613-155111149	GM12878	blood:	n/a	chrX:155111130-155111143
7	BCLAF1	chrX:155110620-155111034	GM12878	blood:	n/a	n/a
8	CBX3	chrX:155097474-155097882	K562	blood:	n/a	n/a
9	CBX3	chrX:155110478-155111375	K562	blood:	n/a	n/a
10	CBX3	chrX:155193995-155194178	K562	blood:	n/a	n/a
11	CBX3	chrX:155097539-155097798	K562	blood:	n/a	n/a
12	CBX3	chrX:155117729-155118210	HCT-116	colon:	n/a	n/a
13	CBX3	chrX:155227022-155227398	K562	blood:	n/a	n/a
14	CBX3	chrX:155213419-155213617	K562	blood:	n/a	n/a
15	CBX3	chrX:155197896-155198446	K562	blood:	n/a	n/a
16	CBX3	chrX:155157333-155157707	K562	blood:	n/a	n/a
17	CBX3	chrX:155193867-155194177	K562	blood:	n/a	n/a
18	CBX3	chrX:155213383-155213699	K562	blood:	n/a	n/a
19	CBX3	chrX:155232090-155232579	K562	blood:	n/a	n/a
20	CBX3	chrX:155117763-155118332	HCT-116	colon:	n/a	n/a
21	CEBPB	chrX:155223148-155223493	HepG2	liver:	n/a	n/a
22	CEBPB	chrX:155223210-155223405	HepG2	liver:	n/a	n/a
23	CEBPD	chrX:155227119-155227489	K562	blood:	n/a	n/a
24	CEBPD	chrX:155231230-155231664	K562	blood:	n/a	n/a
25	CEBPD	chrX:155110955-155111174	HepG2	liver:	n/a	n/a
26	CEBPD	chrX:155231170-155231610	K562	blood:	n/a	n/a
27	CREB1	chrX:155110706-155111718	H1-hESC	embryonic stem cell:	n/a	chrX:155111461-155111474
28	CREB1	chrX:155110725-155111683	H1-hESC	embryonic stem cell:	n/a	chrX:155111461-155111474
29	CREB1	chrX:155110712-155111544	HepG2	liver:	n/a	chrX:155111461-155111474
30	CREB1	chrX:155110616-155111646	K562	blood:	n/a	chrX:155111461-155111474
31	CREB1	chrX:155102863-155103160	H1-hESC	embryonic stem cell:	n/a	n/a
32	CREB1	chrX:155110727-155111073	A549	lung:	n/a	n/a
33	CREB1	chrX:155110547-155111661	HepG2	liver:	n/a	chrX:155111461-155111474
34	CREB1	chrX:155110556-155111675	K562	blood:	n/a	chrX:155111461-155111474
35	CREB1	chrX:155227003-155227569	K562	blood:	n/a	n/a
36	CREB1	chrX:155110661-155111229	A549	lung:	n/a	n/a
37	CREB1	chrX:155110647-155111682	GM12878	blood:	n/a	chrX:155111461-155111474
38	CREB1	chrX:155102854-155103248	K562	blood:	n/a	n/a
39	CREB1	chrX:155227064-155227555	GM12878	blood:	n/a	n/a
40	CREB1	chrX:155110728-155111031	ECC-1	luminal epithelium:	n/a	n/a
41	CTCF	chrX:155076645-155076707	LNCaP	prostate:	n/a	n/a
42	CTCF	chrX:155087340-155087704	K562	blood:	n/a	n/a
43	CTCF	chrX:155230365-155230513	NHEK	skin:	n/a	chrX:155230450-155230468 chrX:155230452-155230465
44	CTCF	chrX:155201438-155201603	SK-N-SH_RA	brain:	n/a	n/a
45	CTCF	chrX:155087337-155087633	K562	blood:	n/a	n/a
46	CTCF	chrX:155196585-155196846	LNCaP	prostate:	n/a	chrX:155196744-155196762 chrX:155196749-155196759 chrX:155196746-155196767 chrX:155196680-155196696 chrX:155196745-155196761
47	CTCF	chrX:155196453-155196982	K562	blood:	n/a	chrX:155196744-155196762 chrX:155196749-155196759 chrX:155196746-155196767 chrX:155196680-155196696 chrX:155196745-155196761
48	CTCF	chrX:155196564-155196880	K562	blood:	n/a	chrX:155196744-155196762 chrX:155196749-155196759 chrX:155196746-155196767 chrX:155196680-155196696 chrX:155196745-155196761
49	CTCF	chrX:155201447-155201453	GM10248	blood:	n/a	n/a
50	CTCF	chrX:155230580-155230618	GM12891	blood:	n/a	n/a

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

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

Variant related genes	Relation type
VAMP7	TF binding region
TRPC6P	TF binding region
ENSG00000270726	TF binding region
IL9R	TF binding region
TCEB1P24	TF binding region
DPH3P2	TF binding region

Extended variants
information (count: 2076 )
Associated
traits (count: 2 )

Variant overlapped rSNPs/rCNVs (count:2076 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190031634	chrX:155074803-155074804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs73638043	chrX:155074831-155074832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185989940	chrX:155074848-155074849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs553266213	chrX:155074875-155074876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190548809	chrX:155074955-155074956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574764450	chrX:155074971-155074972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181435732	chrX:155075021-155075022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs5983800	chrX:155075052-155075053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs373863548	chrX:155075103-155075104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs377163497	chrX:155075120-155075121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs375418804	chrX:155103803-155103804	Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs116200523	chrX:155103808-155103809	Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs185273453	chrX:155103814-155103815	Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs570026984	chrX:155103890-155103891	Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs190500570	chrX:155103955-155103956	Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs146147616	chrX:155104002-155104003	Bivalent Enhancer Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs148804742	chrX:155104031-155104032	Bivalent Enhancer Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs73638052	chrX:155104057-155104058	Bivalent Enhancer Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs199702295	chrX:155104140-155104141	Bivalent Enhancer Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs368868819	chrX:155104145-155104146	Bivalent Enhancer Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs181887580	chrX:155104147-155104148	Bivalent Enhancer Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs151304107	chrX:155104173-155104174	Bivalent Enhancer Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs35097081	chrX:155104207-155104208	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs370884014	chrX:155104208-155104209	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs372213424	chrX:155104210-155104211	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs184784348	chrX:155104317-155104318	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs570852262	chrX:155104352-155104353	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs188376940	chrX:155104368-155104369	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs180689733	chrX:155104378-155104379	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs370688957	chrX:155104438-155104439	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs147599605	chrX:155104969-155104970	Active TSS Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs183331209	chrX:155104996-155104997	Active TSS Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs187633712	chrX:155105000-155105001	Active TSS Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs189720713	chrX:155105039-155105040	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs376078392	chrX:155105085-155105086	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs74411367	chrX:155105609-155105610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550938135	chrX:155105636-155105637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148035442	chrX:155105768-155105769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35743278	chrX:155105818-155105819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189314722	chrX:155105860-155105861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559648415	chrX:155105921-155105922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs73234580	chrX:155105924-155105925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371290050	chrX:155105966-155105967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146329507	chrX:155106032-155106033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552107714	chrX:155106045-155106046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191577027	chrX:155106092-155106093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs377322806	chrX:155106094-155106095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs55949949	chrX:155106173-155106174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541639222	chrX:155106206-155106207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184453615	chrX:155106220-155106221	Weak transcription	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:1807 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:155074800-155075200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chrX:155103800-155104000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
3	chrX:155103800-155105400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chrX:155104000-155104200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
5	chrX:155104000-155104200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
6	chrX:155104000-155104200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chrX:155104000-155104200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
8	chrX:155104000-155104200	Active TSS	Brain Hippocampus Middle	brain
9	chrX:155104000-155104600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chrX:155104000-155104600	Active TSS	Brain Anterior Caudate	brain
11	chrX:155104000-155104600	Active TSS	Osteobl	bone
12	chrX:155104000-155104800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
13	chrX:155104000-155104800	Active TSS	Ovary	ovary
14	chrX:155104200-155104400	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
15	chrX:155104200-155104400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
16	chrX:155104200-155104400	Bivalent Enhancer	Fetal Muscle Leg	muscle
17	chrX:155104200-155104600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chrX:155104200-155104600	Bivalent/Poised TSS	Cortex derived primary cultured neurospheres	brain
19	chrX:155104200-155104600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chrX:155104200-155104600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
21	chrX:155104200-155104600	Bivalent Enhancer	Lung	lung
22	chrX:155104200-155104600	Flanking Active TSS	Pancreas	Pancrea
23	chrX:155104200-155104600	Active TSS	Right Atrium	heart
24	chrX:155104200-155104600	Active TSS	HMEC	breast
25	chrX:155104200-155104600	Active TSS	HSMMtube	muscle
26	chrX:155104200-155104800	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
27	chrX:155104200-155104800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chrX:155104200-155104800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chrX:155104200-155104800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
30	chrX:155104200-155104800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chrX:155104200-155104800	Active TSS	Muscle Satellite Cultured Cells	--
32	chrX:155104200-155104800	Bivalent/Poised TSS	Brain Angular Gyrus	brain
33	chrX:155104200-155104800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chrX:155104200-155104800	Bivalent/Poised TSS	A549	lung
35	chrX:155104200-155104800	Active TSS	HepG2	liver
36	chrX:155104200-155104800	Active TSS	NHDF-Ad	bronchial
37	chrX:155104200-155104800	Active TSS	NHLF	lung
38	chrX:155104200-155105000	Active TSS	HUES6 Cell Line	embryonic stem cell
39	chrX:155104200-155105000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chrX:155104400-155104600	Bivalent/Poised TSS	Primary monocytes fromperipheralblood	blood
41	chrX:155104400-155104600	Flanking Active TSS	Primary B cells from peripheral blood	blood
42	chrX:155104400-155104600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
43	chrX:155104400-155104600	Bivalent Enhancer	Brain Germinal Matrix	brain
44	chrX:155104400-155104600	Active TSS	Duodenum Smooth Muscle	Duodenum
45	chrX:155104400-155104600	Flanking Bivalent TSS/Enh	Left Ventricle	heart
46	chrX:155104400-155104800	Enhancers	Spleen	Spleen
47	chrX:155104400-155105000	Enhancers	K562	blood
48	chrX:155104600-155104800	Enhancers	Primary B cells from peripheral blood	blood
49	chrX:155104600-155104800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chrX:155104600-155104800	Bivalent/Poised TSS	Brain Anterior Caudate	brain

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