Variant report

Variant	rs5964482
Chromosome Location	chrX:65218234-65218235
allele	A/G
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	JUN	chrX:65217863-65218480	K562	blood:	n/a	n/a
2	GTF2F1	chrX:65217750-65218338	K562	blood:	n/a	n/a
3	TBL1XR1	chrX:65217504-65221560	K562	blood:	n/a	n/a
4	NR2F2	chrX:65217683-65218585	K562	blood:	n/a	n/a
5	MAX	chrX:65217644-65218926	NB4	blood:	n/a	chrX:65217989-65217998
6	RCOR1	chrX:65217749-65218542	K562	blood:	n/a	n/a
7	IRF1	chrX:65217529-65221483	K562	blood:	n/a	chrX:65220965-65220975 chrX:65218991-65219003 chrX:65220966-65220977 chrX:65221243-65221257 chrX:65220033-65220047
8	HEY1	chrX:65217503-65218262	K562	blood:	n/a	n/a
9	HCFC1	chrX:65217745-65218603	K562	blood:	n/a	n/a
10	IRF1	chrX:65217835-65221481	K562	blood:	n/a	chrX:65220965-65220975 chrX:65218991-65219003 chrX:65220966-65220977 chrX:65221243-65221257 chrX:65220033-65220047
11	ZC3H11A	chrX:65217899-65218332	K562	blood:	n/a	n/a
12	MAX	chrX:65217789-65218725	K562	blood:	n/a	chrX:65217989-65217998
13	MAZ	chrX:65217665-65218589	K562	blood:	n/a	chrX:65217989-65217998
14	POLR2A	chrX:65217344-65222968	K562	blood:	n/a	n/a
15	NR2F2	chrX:65217610-65218596	K562	blood:	n/a	n/a
16	STAT5A	chrX:65217702-65218592	K562	blood:	n/a	n/a
17	TEAD4	chrX:65217614-65218575	K562	blood:	n/a	n/a
18	HDAC2	chrX:65217885-65218323	K562	blood:	n/a	chrX:65218154-65218163
19	POLR2A	chrX:65217276-65221416	K562	blood:	n/a	n/a
20	MEF2A	chrX:65217919-65218389	K562	blood:	n/a	n/a
21	REST	chrX:65217793-65218549	HL-60	blood:	n/a	n/a
22	CBX3	chrX:65217732-65218312	K562	blood:	n/a	n/a
23	EGR1	chrX:65217946-65218350	K562	blood:	n/a	n/a
24	MAFF	chrX:65217651-65218710	K562	blood:	n/a	n/a
25	MYC	chrX:65218043-65218363	K562	blood:	n/a	n/a
26	ATF1	chrX:65217846-65218637	K562	blood:	n/a	n/a
27	POLR2A	chrX:65217465-65226330	K562	blood:	n/a	n/a
28	SPI1	chrX:65217895-65218236	K562	blood:	n/a	n/a
29	POLR2A	chrX:65217437-65218596	PBDE	blood:	n/a	n/a
30	CEBPD	chrX:65217687-65218674	K562	blood:	n/a	n/a
31	GATA2	chrX:65217818-65218378	K562	blood:	n/a	chrX:65218144-65218161 chrX:65218153-65218162 chrX:65218153-65218163
32	ARID3A	chrX:65217790-65218915	K562	blood:	n/a	n/a
33	RCOR1	chrX:65217723-65218653	K562	blood:	n/a	n/a
34	ZNF143	chrX:65217706-65218843	K562	blood:	n/a	chrX:65217943-65217962
35	ZMIZ1	chrX:65217540-65219999	K562	blood:	n/a	n/a
36	CBX3	chrX:65217755-65218671	K562	blood:	n/a	n/a
37	POLR2A	chrX:65217710-65218406	K562	blood:	n/a	n/a
38	TRIM28	chrX:65217629-65218656	K562	blood:	n/a	n/a
39	TAL1	chrX:65217641-65218435	K562	blood:	n/a	chrX:65218144-65218162
40	CEBPD	chrX:65217717-65218483	K562	blood:	n/a	n/a
41	UBTF	chrX:65217896-65218438	K562	blood:	n/a	n/a
42	POLR2A	chrX:65217329-65222635	K562	blood:	n/a	n/a
43	HEY1	chrX:65217627-65218695	K562	blood:	n/a	n/a
44	GATA1	chrX:65218015-65218460	PBDEFetal	blood:	n/a	chrX:65218144-65218161 chrX:65218153-65218162 chrX:65218153-65218163
45	MYC	chrX:65217599-65218797	K562	blood:	n/a	chrX:65217989-65217998
46	POLR2A	chrX:65217384-65222773	K562	blood:	n/a	n/a
47	SP1	chrX:65217897-65218383	K562	blood:	n/a	n/a
48	KAP1	chrX:65217763-65218603	K562	blood:	n/a	n/a
49	BACH1	chrX:65217758-65218242	K562	blood:	n/a	n/a
50	CHD2	chrX:65217810-65218303	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chrX:64886000..64890941-chrX:65215009..65218758,4	K562	blood:
2	chrX:65082330..65084063-chrX:65217290..65219075,2	K562	blood:
3	chrX:65217855..65221728-chrX:65385868..65390112,4	K562	blood:
4	chrX:64801353..64803588-chrX:65216657..65218463,2	K562	blood:
5	chrX:64809578..64812162-chrX:65215735..65218527,2	K562	blood:
6	chrX:65090874..65092830-chrX:65216549..65218886,2	K562	blood:

Variant related genes	Relation type
ENSG00000237311	TF binding region
ENSG00000089472	Chromatin interaction
ENSG00000147065	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1325561	0.86[MEX][hapmap]
rs3848893	1.00[YRI][hapmap]
rs3848897	0.86[CEU][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap]
rs3848900	1.00[ASW][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.85[LWK][hapmap];0.93[MEX][hapmap];0.85[MKK][hapmap];0.82[TSI][hapmap];0.93[YRI][hapmap]
rs3848901	0.85[GIH][hapmap];0.93[MEX][hapmap]
rs3903921	0.93[GIH][hapmap];0.93[MEX][hapmap];0.82[TSI][hapmap]
rs4827449	0.86[MEX][hapmap]
rs582787	0.82[TSI][hapmap]
rs585069	0.86[MEX][hapmap];0.82[TSI][hapmap]
rs586789	0.86[MEX][hapmap];0.82[TSI][hapmap]
rs587657	0.86[MEX][hapmap];0.82[TSI][hapmap]
rs5918587	0.86[MEX][hapmap]
rs5918974	0.86[MEX][hapmap]
rs5964466	0.93[MEX][hapmap]
rs5964480	0.88[CEU][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap]
rs5964483	1.00[CEU][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap]
rs5964486	1.00[ASW][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.83[LWK][hapmap];0.93[MEX][hapmap];0.86[MKK][hapmap];0.82[TSI][hapmap];0.93[YRI][hapmap]
rs5964487	0.85[GIH][hapmap];0.93[MEX][hapmap]
rs5964488	0.93[MEX][hapmap]
rs5964489	0.93[YRI][hapmap]
rs5965071	0.86[CEU][hapmap]
rs5965077	1.00[ASW][hapmap];0.86[CEU][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs5965083	1.00[CHD][hapmap];0.93[GIH][hapmap];0.93[MEX][hapmap];0.82[TSI][hapmap]
rs5965085	0.93[YRI][hapmap]
rs5965087	0.81[YRI][hapmap]
rs606886	0.86[MEX][hapmap]
rs6624823	1.00[CHD][hapmap]
rs6624844	0.86[MEX][hapmap]
rs670546	0.86[MEX][hapmap];0.82[TSI][hapmap]
rs760867	0.86[MEX][hapmap]
rs7882859	1.00[CHD][hapmap]
rs9306698	0.82[CEU][hapmap]
rs9633155	0.85[GIH][hapmap];0.93[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3429625	chrX:64787230-65458721	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv995042	chrX:65121634-65953299	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:65208000-65221200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chrX:65209600-65218800	Weak transcription	Primary B cells from cord blood	blood
3	chrX:65213600-65220200	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chrX:65213600-65235000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chrX:65213800-65219200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chrX:65213800-65225200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chrX:65214400-65218600	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chrX:65215000-65219000	Weak transcription	Primary T cells from cord blood	blood
9	chrX:65215800-65219000	Weak transcription	Primary B cells from peripheral blood	blood
10	chrX:65215800-65222000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chrX:65217400-65219800	Flanking Active TSS	K562	blood
12	chrX:65217600-65219200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chrX:65217600-65220200	Enhancers	Primary hematopoietic stem cells	blood
14	chrX:65218000-65218600	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chrX:65218200-65218600	Weak transcription	Primary T helper cells PMA-I stimulated	--

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