Variant report

Variant	rs2497273
Chromosome Location	chrX:138931823-138931824
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chrX:138924049..138925743-chrX:138929797..138931945,2	K562	blood:
2	chrX:138931759..138934021-chrX:139013116..139015222,2	MCF-7	breast:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs12687833	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap]
rs12688014	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs12688450	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs12688688	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs12688705	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs12689725	1.00[CHB][hapmap]
rs1338059	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs1361155	1.00[CHB][hapmap]
rs1415887	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs17281969	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs17281990	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs17282011	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs17282039	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs17282067	1.00[CHB][hapmap]
rs17282081	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs17328640	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs17328647	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs17328703	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs17328709	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs2183251	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap]
rs2252290	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2485721	1.00[CHB][hapmap]
rs2485722	1.00[CHB][hapmap];0.80[JPT][hapmap]
rs2485724	1.00[CHB][hapmap];0.93[JPT][hapmap]
rs2485728	1.00[CHB][hapmap]
rs2485729	1.00[CHB][hapmap]
rs2485732	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs2485733	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2491005	1.00[CHB][hapmap]
rs2491006	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs2491009	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs2497266	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs2497270	1.00[YRI][hapmap]
rs2497274	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs2497277	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs2497280	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2497281	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap]
rs2497282	1.00[CHB][hapmap]
rs2497284	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs2772192	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2772194	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs2805901	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs2805902	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs4239992	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs5908669	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs5953621	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs5953643	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs5953692	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs5953748	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs5953790	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs5954529	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs5954562	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs5954594	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs6528650	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs6528651	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs6635906	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7061584	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs7885696	1.00[CHB][hapmap];0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532936	chrX:138687855-139384681	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
2	nsv491760	chrX:138780768-139283477	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
3	nsv917353	chrX:138912620-139283492	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	146 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:138914600-138934400	Weak transcription	Primary hematopoietic stem cells	blood
2	chrX:138924600-138934600	Weak transcription	Fetal Intestine Small	intestine
3	chrX:138926600-138933200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chrX:138927000-138933400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chrX:138927400-138932600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chrX:138927400-138933000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chrX:138927400-138933000	Weak transcription	Aorta	Aorta
8	chrX:138927400-138960200	Weak transcription	Liver	Liver
9	chrX:138927600-138932400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chrX:138927600-138935000	Weak transcription	GM12878-XiMat	blood
11	chrX:138928000-138932400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chrX:138928200-138932400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chrX:138929600-138934600	Weak transcription	Primary B cells from cord blood	blood
14	chrX:138930200-138933200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chrX:138931800-138932200	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chrX:138931800-138936800	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chrX:138931800-138939400	Enhancers	HUES48 Cell Line	embryonic stem cell

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