Variant report

Variant	rs5985318
Chromosome Location	chrX:110349079-110349080
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10521531	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs1159650	1.00[CEU][hapmap]
rs12116264	1.00[CEU][hapmap]
rs1339302	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[TSI][hapmap]
rs1339303	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[TSI][hapmap]
rs1339304	1.00[CEU][hapmap]
rs1361320	1.00[CEU][hapmap];1.00[MEX][hapmap]
rs16986368	1.00[CEU][hapmap]
rs16986378	1.00[CEU][hapmap]
rs16986384	1.00[CEU][hapmap]
rs16986385	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs16986393	1.00[GIH][hapmap]
rs1884552	1.00[CEU][hapmap]
rs1884554	1.00[CEU][hapmap]
rs1884555	1.00[CEU][hapmap]
rs2050750	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs2050751	0.85[ASW][hapmap];1.00[CEU][hapmap]
rs2066102	1.00[CEU][hapmap]
rs2208017	1.00[CEU][hapmap];1.00[GIH][hapmap];0.83[TSI][hapmap]
rs2208018	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap]
rs2208020	1.00[CEU][hapmap]
rs4341302	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs4384152	1.00[CEU][hapmap];1.00[MEX][hapmap]
rs4514174	1.00[CEU][hapmap]
rs5942719	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs5942720	1.00[CEU][hapmap]
rs5942721	1.00[CEU][hapmap]
rs5943130	1.00[CEU][hapmap]
rs5943132	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs5943137	1.00[CEU][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap]
rs5985586	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[TSI][hapmap]
rs5985587	1.00[CEU][hapmap]
rs5985588	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs5985590	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs6642857	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[TSI][hapmap]
rs6642860	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]
rs6642862	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs6642870	1.00[CEU][hapmap]
rs7879757	1.00[CEU][hapmap];1.00[GIH][hapmap];0.83[TSI][hapmap]
rs7881798	1.00[CEU][hapmap]
rs9320060	1.00[GIH][hapmap]
rs994591	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532899	chrX:110117241-110419226	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv428712	chrX:110184832-110358638	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv3337751	chrX:110217889-110429181	Enhancers Active TSS Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv869661	chrX:110337762-111084262	Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv869737	chrX:110346973-110376790	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:110340000-110351000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chrX:110340000-110353200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chrX:110340000-110374200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chrX:110340400-110349400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chrX:110342400-110357800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chrX:110342800-110358200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chrX:110342800-110362200	Weak transcription	Brain Angular Gyrus	brain
8	chrX:110344000-110349800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chrX:110345600-110357800	Weak transcription	Placenta	Placenta
10	chrX:110345600-110406200	Weak transcription	Brain Germinal Matrix	brain
11	chrX:110345800-110349800	Strong transcription	Aorta	Aorta
12	chrX:110346000-110353600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chrX:110346400-110351000	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chrX:110346600-110350600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chrX:110347200-110349400	Weak transcription	Pancreas	Pancrea
16	chrX:110347200-110349800	Strong transcription	Fetal Muscle Leg	muscle
17	chrX:110347200-110355000	Weak transcription	Ovary	ovary
18	chrX:110347200-110372400	Weak transcription	Fetal Muscle Trunk	muscle
19	chrX:110347600-110349800	Strong transcription	H1 Cell Line	embryonic stem cell
20	chrX:110347800-110371400	Weak transcription	HMEC	breast
21	chrX:110348000-110349800	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chrX:110348200-110349600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chrX:110348200-110349800	Strong transcription	H9 Cell Line	embryonic stem cell
24	chrX:110348200-110349800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chrX:110348400-110349600	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chrX:110348400-110349800	Strong transcription	Osteobl	bone
27	chrX:110348400-110350000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chrX:110349000-110349600	Strong transcription	NH-A	brain

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