Variant report

Variant	rs2066449
Chromosome Location	chrX:73402009-73402010
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chrX:73401807-73402253	MCF-7	breast:	n/a	n/a
2	POLR2A	chrX:73401824-73402186	PANC-1	pancreas:	n/a	n/a
3	HDAC2	chrX:73401795-73402204	MCF-7	breast:	n/a	n/a
4	SIN3AK20	chrX:73401551-73402400	MCF-7	breast:	n/a	n/a
5	KAP1	chrX:73401753-73402290	HEK293	kidney:	n/a	n/a
6	GATA3	chrX:73401696-73402258	T-47D	breast:	n/a	n/a
7	MYC	chrX:73401920-73402064	MCF-7	breast:	n/a	n/a
8	GATA3	chrX:73401842-73402114	SH-SY5Y	brain:	n/a	n/a
9	FOXA1	chrX:73401754-73402199	T-47D	breast:	n/a	n/a
10	NR2F2	chrX:73401766-73402221	MCF-7	breast:	n/a	n/a
11	POLR2A	chrX:73401979-73402109	MCF-7	breast:	n/a	n/a
12	KAP1	chrX:73401694-73402235	U2OS	brain:	n/a	n/a
13	HA-E2F1	chrX:73401676-73402353	MCF-7	breast:	n/a	n/a
14	EP300	chrX:73401711-73402289	MCF-7	breast:	n/a	n/a
15	EP300	chrX:73401764-73402175	T-47D	breast:	n/a	n/a
16	EP300	chrX:73401630-73402298	T-47D	breast:	n/a	n/a
17	TCF7L2	chrX:73401733-73402079	HEK293	kidney:	n/a	n/a
18	GATA3	chrX:73401848-73402166	MCF-7	breast:	n/a	n/a
19	ESR1	chrX:73401752-73402210	T-47D	breast:	n/a	n/a
20	FOXA1	chrX:73401744-73402165	T-47D	breast:	n/a	n/a
21	ESR1	chrX:73401669-73402205	T-47D	breast:	n/a	n/a
22	GATA2	chrX:73401840-73402238	SH-SY5Y	brain:	n/a	n/a
23	GATA3	chrX:73401727-73402533	MCF-7	breast:	n/a	n/a
24	JUND	chrX:73401747-73402217	T-47D	breast:	n/a	n/a
25	ZNF217	chrX:73401833-73402282	MCF-7	breast:	n/a	n/a
26	TCF7L2	chrX:73401823-73402161	MCF-7	breast:	n/a	n/a
27	GATA3	chrX:73401684-73402276	T-47D	breast:	n/a	n/a
28	JUND	chrX:73401815-73402142	T-47D	breast:	n/a	n/a
29	GATA3	chrX:73401807-73402351	MCF-7	breast:	n/a	n/a
30	ESR1	chrX:73401828-73402142	T-47D	breast:	n/a	n/a
31	ESR1	chrX:73401752-73402095	T-47D	breast:	n/a	n/a
32	TEAD4	chrX:73401842-73402128	MCF-7	breast:	n/a	n/a
33	EP300	chrX:73401835-73402189	MCF-7	breast:	n/a	n/a
34	ESR1	chrX:73401739-73402193	T-47D	breast:	n/a	n/a
35	MYC	chrX:73401865-73402103	MCF-7	breast:	n/a	n/a

No data

Variant related genes	Relation type
BMP2KL	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1151599	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1151602	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1263240	1.00[JPT][hapmap]
rs1263243	1.00[JPT][hapmap]
rs1263244	1.00[JPT][hapmap]
rs1263259	1.00[JPT][hapmap]
rs12835261	1.00[JPT][hapmap]
rs1341326	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs174164	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs486337	1.00[JPT][hapmap]
rs4892491	1.00[CHB][hapmap]
rs5981258	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5981268	1.00[JPT][hapmap]
rs5981589	1.00[CHB][hapmap]
rs5981594	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5981595	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs5981614	1.00[JPT][hapmap]
rs604174	1.00[CHB][hapmap]
rs6607463	1.00[CHB][hapmap]
rs6647038	1.00[CHB][hapmap]
rs6647445	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6647446	1.00[CHB][hapmap]
rs6647448	1.00[CHB][hapmap]
rs6647454	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6655556	1.00[CHB][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	esv3364045	chrX:72896383-73699363	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	301 gene(s)	inside rSNPs	diseases
2	esv3439689	chrX:73355891-73478378	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	217 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:73400400-73410400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chrX:73401000-73402200	Weak transcription	Placenta	Placenta
3	chrX:73401000-73402400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chrX:73401000-73415000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chrX:73401000-73415000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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