Variant report

Variant	rs12394312
Chromosome Location	chrX:109638474-109638475
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chrX:109637443..109639454-chrX:109642435..109645799,3	K562	blood:
2	chrX:109632843..109635409-chrX:109636308..109639551,3	K562	blood:
3	chrX:109638040..109640744-chrX:109642591..109644789,3	K562	blood:
4	chrX:109633892..109639812-chrX:109645953..109649648,6	MCF-7	breast:
5	chrX:109638358..109640423-chrX:109641072..109643231,2	MCF-7	breast:
6	chrX:109556301..109564965-chrX:109638412..109651371,20	MCF-7	breast:
7	chrX:109638240..109640846-chrX:109647005..109649037,2	K562	blood:
8	chrX:109421031..109422719-chrX:109637799..109640538,2	K562	blood:
9	chrX:109560266..109562217-chrX:109637723..109640288,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000101935	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10126143	1.00[CEU][hapmap]
rs12387996	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs12389230	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs12389753	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs12392782	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs16985968	1.00[CEU][hapmap]
rs17003968	1.00[CEU][hapmap]
rs2209182	1.00[CEU][hapmap]
rs2209183	1.00[CEU][hapmap]
rs5985278	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs5985461	1.00[CEU][hapmap]
rs5985462	1.00[CEU][hapmap]
rs5985466	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs5985467	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530248	chrX:109436208-109743686	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2758583	chrX:109581771-109711481	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv2758884	chrX:109581771-109711481	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv438150	chrX:109635217-109640055	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:109636000-109642200	Enhancers	K562	blood
2	chrX:109637400-109639200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chrX:109637600-109642000	Enhancers	HMEC	breast
4	chrX:109637800-109639000	Enhancers	Placenta	Placenta
5	chrX:109637800-109639200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
6	chrX:109637800-109640000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chrX:109637800-109640200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chrX:109637800-109640600	Enhancers	Muscle Satellite Cultured Cells	--
9	chrX:109637800-109640600	Enhancers	HSMMtube	muscle
10	chrX:109637800-109641400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chrX:109637800-109641400	Enhancers	NHDF-Ad	bronchial
12	chrX:109637800-109641600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chrX:109637800-109641600	Enhancers	HSMM	muscle
14	chrX:109637800-109641800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chrX:109638000-109638800	Enhancers	NH-A	brain
16	chrX:109638000-109639200	Enhancers	Placenta Amnion	Placenta Amnion
17	chrX:109638000-109639200	Enhancers	NHLF	lung
18	chrX:109638000-109639800	Enhancers	Osteobl	bone
19	chrX:109638000-109640600	Enhancers	Fetal Intestine Large	intestine
20	chrX:109638000-109640800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chrX:109638000-109641400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chrX:109638000-109641400	Enhancers	Hela-S3	cervix
23	chrX:109638200-109638600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chrX:109638200-109641800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chrX:109638400-109639200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chrX:109638400-109639800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chrX:109638400-109640000	Bivalent Enhancer	NHEK	skin
28	chrX:109638400-109643200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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