Variant report

Variant	rs1751094
Chromosome Location	chrX:78616350-78616351
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chrX:78615570..78618200-chrX:78620529..78622334,2	K562	blood:
2	chrX:78615804..78618128-chrX:78622582..78624536,2	K562	blood:

Variant related genes	Relation type
ENSG00000078596	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1736681	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs3747363	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs6522993	1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3394349	chrX:77977388-78779139	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
2	nsv932683	chrX:78373033-79166725	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv869186	chrX:78392001-79166725	Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv995120	chrX:78528055-78946146	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv519126	chrX:78586744-78629178	Strong transcription Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv529913	chrX:78605903-79090819	Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:78610600-78616600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chrX:78611000-78618400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chrX:78611000-78618600	Weak transcription	Thymus	Thymus
4	chrX:78611000-78619200	Weak transcription	Fetal Muscle Leg	muscle
5	chrX:78611000-78620800	Weak transcription	Fetal Muscle Trunk	muscle
6	chrX:78613000-78617000	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chrX:78613200-78618400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chrX:78614000-78616600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chrX:78614200-78618200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chrX:78614400-78618600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chrX:78614600-78619800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chrX:78614800-78616400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chrX:78615000-78618800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chrX:78615200-78618600	Strong transcription	Primary T cells fromperipheralblood	blood
15	chrX:78615200-78618800	Strong transcription	Fetal Thymus	thymus
16	chrX:78615400-78618400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chrX:78615600-78616400	Weak transcription	Primary T cells from cord blood	blood
18	chrX:78615800-78618000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chrX:78616000-78616800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
20	chrX:78616200-78616800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chrX:78616200-78620800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chrX:78616200-78620800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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