Variant report

Variant	rs6647052
Chromosome Location	chrX:73651720-73651721
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11093451	0.86[CHB][hapmap]
rs12688747	0.86[CHB][hapmap]
rs1634626	0.87[CHB][hapmap]
rs17312542	1.00[CEU][hapmap]
rs1926864	0.87[CHB][hapmap]
rs4892383	0.87[CHB][hapmap]
rs4892510	0.87[CHB][hapmap]
rs511721	1.00[CHB][hapmap]
rs517624	0.87[CHB][hapmap]
rs563433	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs5981273	0.86[CHB][hapmap]
rs5981631	0.87[CHB][hapmap]
rs6607472	0.87[CHB][hapmap]
rs6607474	0.87[CHB][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	esv3364045	chrX:72896383-73699363	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	301 gene(s)	inside rSNPs	diseases
2	nsv916758	chrX:73546406-74420929	Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv532878	chrX:73603325-74057587	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:73643000-73651800	Weak transcription	Fetal Intestine Large	intestine
2	chrX:73643000-73656800	Weak transcription	Brain Angular Gyrus	brain
3	chrX:73643600-73669200	Weak transcription	HSMM	muscle
4	chrX:73643800-73652600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chrX:73643800-73654200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chrX:73643800-73658200	Weak transcription	HSMMtube	muscle
7	chrX:73644000-73654200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chrX:73644200-73651800	Weak transcription	Fetal Heart	heart
9	chrX:73644400-73651800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chrX:73645000-73668800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chrX:73645800-73658400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chrX:73646200-73654000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chrX:73646800-73653000	Weak transcription	Liver	Liver
14	chrX:73649200-73657200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chrX:73649600-73651800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chrX:73651200-73652600	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chrX:73651400-73652800	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chrX:73651600-73652400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chrX:73651600-73652600	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chrX:73651600-73652600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chrX:73651600-73652800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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