Variant report

Variant	rs3126255
Chromosome Location	chrX:55514818-55514819
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-USP51-1	chrX:55514448-55515421	NONHSAT137251

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1005612	0.94[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap]
rs11545211	0.94[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap]
rs12688603	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.81[TSI][hapmap]
rs17277280	0.93[CHB][hapmap];0.93[CHD][hapmap]
rs2473057	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap]
rs2499861	0.94[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap]
rs3002630	0.92[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap]
rs5000659	0.93[CHB][hapmap];0.93[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3410436	chrX:55229677-55671986	Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
2	esv3494957	chrX:55328700-55585199	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	esv3494958	chrX:55328757-55585154	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	nsv469510	chrX:55463837-55570914	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
5	nsv482619	chrX:55463837-55570914	Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
6	nsv524155	chrX:55508099-55689174	Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:55512800-55515000	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chrX:55513600-55515000	Enhancers	NHEK	skin
3	chrX:55513800-55515000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chrX:55513800-55516800	Active TSS	Brain Germinal Matrix	brain
5	chrX:55514000-55515000	Enhancers	HMEC	breast
6	chrX:55514000-55516600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
7	chrX:55514200-55516800	Active TSS	K562	blood
8	chrX:55514400-55515200	Active TSS	Fetal Brain Female	brain
9	chrX:55514400-55516200	Active TSS	Brain Hippocampus Middle	brain
10	chrX:55514400-55516200	Active TSS	Fetal Brain Male	brain
11	chrX:55514400-55516200	Active TSS	Fetal Thymus	thymus
12	chrX:55514400-55516400	Active TSS	Primary T cells from cord blood	blood
13	chrX:55514400-55516400	Active TSS	Thymus	Thymus
14	chrX:55514400-55516600	Active TSS	GM12878-XiMat	blood
15	chrX:55514400-55516800	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chrX:55514400-55516800	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chrX:55514400-55516800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
18	chrX:55514400-55517000	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chrX:55514600-55515000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
20	chrX:55514600-55515000	Active TSS	Fetal Muscle Trunk	muscle
21	chrX:55514600-55515000	Enhancers	Spleen	Spleen
22	chrX:55514600-55515000	Enhancers	HSMMtube	muscle
23	chrX:55514600-55515000	Enhancers	NH-A	brain
24	chrX:55514600-55515200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
25	chrX:55514600-55515200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
26	chrX:55514600-55515200	Active TSS	Skeletal Muscle Female	skeletal muscle
27	chrX:55514600-55515400	Active TSS	Placenta	Placenta
28	chrX:55514600-55516200	Active TSS	Primary monocytes fromperipheralblood	blood
29	chrX:55514600-55516200	Active TSS	Primary B cells from cord blood	blood
30	chrX:55514600-55516200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
31	chrX:55514600-55516200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
32	chrX:55514600-55516200	Active TSS	Fetal Heart	heart
33	chrX:55514600-55516400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chrX:55514600-55516400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chrX:55514600-55516400	Active TSS	Primary hematopoietic stem cells	blood
36	chrX:55514600-55516400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chrX:55514600-55516400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
38	chrX:55514600-55516400	Active TSS	Liver	Liver
39	chrX:55514600-55516400	Active TSS	Brain Substantia Nigra	brain
40	chrX:55514600-55516400	Active TSS	Colonic Mucosa	Colon
41	chrX:55514600-55516400	Active TSS	Duodenum Mucosa	Duodenum
42	chrX:55514600-55516400	Active TSS	Esophagus	oesophagus
43	chrX:55514600-55516400	Active TSS	Fetal Intestine Small	intestine
44	chrX:55514600-55516400	Active TSS	HSMM	muscle
45	chrX:55514600-55516400	Active TSS	HUVEC	blood vessel
46	chrX:55514600-55516400	Active TSS	NHLF	lung
47	chrX:55514600-55516600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chrX:55514600-55516600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chrX:55514600-55516600	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
50	chrX:55514600-55516600	Active TSS	Primary T helper naive cells from peripheral blood	blood

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