Variant report

Variant	rs5937843
Chromosome Location	chrX:73749319-73749320
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chrX:73741685..73745108-chrX:73747636..73750354,3	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10284046	1.00[CHB][hapmap]
rs1263181	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs1634626	1.00[CEU][hapmap];0.89[MEX][hapmap]
rs34974916	1.00[CHB][hapmap]
rs473645	1.00[CHB][hapmap]
rs479640	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs484079	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs485156	1.00[CHB][hapmap]
rs486485	1.00[CHB][hapmap]
rs4892383	1.00[CEU][hapmap]
rs4892385	0.88[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.89[LWK][hapmap];0.86[MKK][hapmap];0.81[TSI][hapmap];0.80[YRI][hapmap]
rs4892386	0.88[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.88[LWK][hapmap];0.86[MKK][hapmap];0.81[TSI][hapmap];0.80[YRI][hapmap]
rs4892510	1.00[CEU][hapmap];0.83[MEX][hapmap]
rs4892514	0.88[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.86[MKK][hapmap];0.81[TSI][hapmap];0.80[YRI][hapmap]
rs496549	1.00[CHD][hapmap]
rs499282	1.00[CHB][hapmap]
rs500243	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs511721	0.93[CEU][hapmap]
rs517624	1.00[CEU][hapmap];0.89[MEX][hapmap]
rs520684	1.00[CHB][hapmap]
rs523649	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs527480	1.00[CHB][hapmap]
rs538732	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs552075	1.00[CHB][hapmap]
rs557647	1.00[CHB][hapmap]
rs575348	1.00[CHB][hapmap]
rs5937283	0.88[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.81[TSI][hapmap]
rs5937811	1.00[CHB][hapmap]
rs5937829	0.88[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.81[TSI][hapmap]
rs5937831	0.88[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.88[LWK][hapmap];0.86[MKK][hapmap];0.81[TSI][hapmap];0.80[YRI][hapmap]
rs5937836	1.00[CHB][hapmap]
rs5937837	1.00[CHB][hapmap]
rs5937841	0.88[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.86[MKK][hapmap];0.81[TSI][hapmap];0.80[YRI][hapmap]
rs5937842	0.88[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.86[MKK][hapmap];0.81[TSI][hapmap];0.80[YRI][hapmap]
rs5937844	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs5981631	1.00[CEU][hapmap]
rs5981633	1.00[CHB][hapmap];0.80[YRI][hapmap]
rs6607472	1.00[CEU][hapmap]
rs6607474	1.00[CEU][hapmap]
rs6647493	1.00[CEU][hapmap];0.83[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	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
2	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
3	nsv521472	chrX:73656415-73878101	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:73732400-73755000	Weak transcription	Brain Substantia Nigra	brain
2	chrX:73734400-73752800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chrX:73737200-73755400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chrX:73737400-73755400	Weak transcription	Brain Hippocampus Middle	brain
5	chrX:73739400-73755000	Weak transcription	Brain Cingulate Gyrus	brain
6	chrX:73739600-73755200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chrX:73742400-73754400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chrX:73742400-73755200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chrX:73743000-73754600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chrX:73743200-73751000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chrX:73743800-73754200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chrX:73744000-73750600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chrX:73744000-73754200	Weak transcription	NHDF-Ad	bronchial
14	chrX:73744000-73754600	Weak transcription	NHEK	skin
15	chrX:73744000-73755000	Weak transcription	Brain Germinal Matrix	brain
16	chrX:73744200-73754400	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chrX:73744200-73755000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chrX:73744400-73754000	Weak transcription	HMEC	breast
19	chrX:73745000-73754200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chrX:73745000-73755400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chrX:73745200-73749600	Enhancers	Fetal Heart	heart
22	chrX:73745800-73751000	Weak transcription	HSMMtube	muscle
23	chrX:73747400-73755000	Weak transcription	Adipose Nuclei	Adipose
24	chrX:73747400-73755600	Weak transcription	Small Intestine	intestine
25	chrX:73747600-73754400	Weak transcription	Fetal Lung	lung
26	chrX:73747800-73754000	Weak transcription	HSMM	muscle
27	chrX:73748200-73750400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chrX:73748200-73753400	Weak transcription	Colon Smooth Muscle	Colon
29	chrX:73748200-73755400	Weak transcription	H9 Cell Line	embryonic stem cell
30	chrX:73748400-73752800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chrX:73748400-73753000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chrX:73748600-73751000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chrX:73748800-73752600	Strong transcription	Fetal Muscle Leg	muscle
34	chrX:73748800-73752800	Strong transcription	Fetal Muscle Trunk	muscle
35	chrX:73748800-73752800	Strong transcription	Fetal Stomach	stomach
36	chrX:73749000-73749600	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chrX:73749200-73749600	Strong transcription	Liver	Liver

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