Variant report

Variant	rs2227291
Chromosome Location	chrX:77268502-77268503
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:77262120..77263891-chrX:77267020..77269535,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10521358	0.93[CEU][hapmap]
rs17139585	0.93[CEU][hapmap];0.92[CHB][hapmap];0.83[CHD][hapmap];0.94[JPT][hapmap];0.87[TSI][hapmap]
rs17139617	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.81[MKK][hapmap];0.96[TSI][hapmap]
rs2073176	0.82[TSI][hapmap]
rs2073178	0.81[TSI][hapmap]
rs2643581	0.82[TSI][hapmap]
rs4826248	0.82[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3369442	chrX:76969046-77309072	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv529299	chrX:77040316-77947157	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
3	nsv532880	chrX:77085352-77769755	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	esv3404229	chrX:77123346-77309072	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv529237	chrX:77226910-77294511	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv2758575	chrX:77226910-77309072	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	esv2758874	chrX:77226910-77309072	Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
8	nsv917070	chrX:77250619-77294719	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:77218200-77289000	Weak transcription	Primary T cells fromperipheralblood	blood
2	chrX:77229200-77302200	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chrX:77242400-77300600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chrX:77245400-77290800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chrX:77253200-77275200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chrX:77254000-77293200	Weak transcription	Spleen	Spleen
7	chrX:77257200-77270000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chrX:77257400-77303200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chrX:77260200-77303600	Weak transcription	Right Ventricle	heart
10	chrX:77261000-77275000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chrX:77261800-77271000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chrX:77262600-77300200	Weak transcription	Liver	Liver
13	chrX:77262800-77279800	Weak transcription	Fetal Lung	lung
14	chrX:77263400-77309800	Weak transcription	Left Ventricle	heart
15	chrX:77264200-77274800	Weak transcription	Fetal Kidney	kidney
16	chrX:77264600-77303800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chrX:77267000-77300400	Weak transcription	Primary hematopoietic stem cells	blood
18	chrX:77267000-77302200	Weak transcription	Primary B cells from cord blood	blood
19	chrX:77267600-77272400	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chrX:77268200-77269400	Strong transcription	Primary T helper cells fromperipheralblood	blood

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