Variant report

Variant	rs5964989
Chromosome Location	chrX:64827053-64827054
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chrX:64825964..64828463-chrX:64896230..64898129,2	K562	blood:
2	chrX:64826597..64829668-chrX:64887268..64889287,3	K562	blood:

Variant related genes	Relation type
ENSG00000147065	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12395545	1.00[GIH][hapmap]
rs12395619	1.00[GIH][hapmap]
rs16988888	0.95[YRI][hapmap]
rs2038284	1.00[GIH][hapmap]
rs2038285	1.00[GIH][hapmap]
rs5964442	1.00[GIH][hapmap]
rs5964443	1.00[GIH][hapmap]
rs5964981	1.00[GIH][hapmap]
rs5964990	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs7065069	1.00[GIH][hapmap]
rs959215	1.00[GIH][hapmap];1.00[MEX][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	nsv817451	chrX:64049597-64916072	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv3409088	chrX:64739187-64876813	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:64818600-64828400	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chrX:64821800-64830200	Weak transcription	K562	blood
3	chrX:64822200-64829800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chrX:64822600-64827200	Weak transcription	Spleen	Spleen
5	chrX:64822600-64828400	Weak transcription	Fetal Lung	lung
6	chrX:64823200-64827800	Weak transcription	Lung	lung
7	chrX:64823800-64827400	Weak transcription	Primary T cells from cord blood	blood
8	chrX:64824400-64827200	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chrX:64824800-64827200	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chrX:64824800-64830200	Enhancers	NHEK	skin
11	chrX:64825000-64827200	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chrX:64825000-64827800	Enhancers	Muscle Satellite Cultured Cells	--
13	chrX:64825000-64829400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chrX:64825400-64827600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chrX:64825600-64829800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chrX:64825800-64829400	Enhancers	Primary hematopoietic stem cells	blood
17	chrX:64826000-64829200	Weak transcription	HUVEC	blood vessel
18	chrX:64826400-64829800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chrX:64826600-64828000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
20	chrX:64826600-64829400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chrX:64826600-64830200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chrX:64826600-64831200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chrX:64826800-64828600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chrX:64826800-64830000	Enhancers	Primary monocytes fromperipheralblood	blood
25	chrX:64826800-64830000	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chrX:64826800-64830200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chrX:64826800-64830200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chrX:64826800-64830200	Enhancers	Hela-S3	cervix
29	chrX:64826800-64830600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chrX:64827000-64827400	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chrX:64827000-64828000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chrX:64827000-64829600	Enhancers	Primary T cells fromperipheralblood	blood
33	chrX:64827000-64829600	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chrX:64827000-64830000	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chrX:64827000-64830200	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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