Variant report

Variant	rs1385696
Chromosome Location	chrX:65853520-65853521
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chrX:65852587..65855545-chrX:65857055..65858751,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11093958	1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap]
rs12855916	1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap]
rs1352015	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs1385699	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.95[TSI][hapmap]
rs1485682	1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap]
rs16990142	0.83[GIH][hapmap]
rs1825564	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]
rs4827380	1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap]
rs4827499	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.87[TSI][hapmap]
rs5918658	1.00[CEU][hapmap];1.00[GIH][hapmap];0.90[MEX][hapmap];0.91[TSI][hapmap]
rs995618	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv995042	chrX:65121634-65953299	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
2	nsv916917	chrX:65628203-65966658	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	nsv498092	chrX:65628203-66170369	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
4	nsv949354	chrX:65705774-65952293	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv432334	chrX:65705774-66018207	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
6	nsv520630	chrX:65706079-66017027	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	nsv529910	chrX:65738026-66025016	Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv532867	chrX:65768210-65926263	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv532866	chrX:65768210-65927478	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv532865	chrX:65768210-65952059	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	nsv432336	chrX:65808595-65913868	Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv534422	chrX:65815490-65894956	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv534223	chrX:65815490-65895015	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:65832800-65856600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chrX:65836000-65857200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chrX:65852000-65856400	Enhancers	HMEC	breast
4	chrX:65852000-65859200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chrX:65852000-65859400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chrX:65852200-65855200	Enhancers	NHDF-Ad	bronchial
7	chrX:65852400-65853800	Enhancers	NH-A	brain
8	chrX:65852400-65854000	Enhancers	HSMMtube	muscle
9	chrX:65852400-65856800	Enhancers	Osteobl	bone
10	chrX:65852600-65853800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chrX:65852600-65854000	Flanking Active TSS	A549	lung
12	chrX:65852600-65855200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chrX:65852600-65855600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chrX:65852600-65856400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chrX:65852800-65855000	Weak transcription	HepG2	liver
16	chrX:65852800-65855200	Enhancers	HSMM	muscle
17	chrX:65853000-65854000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chrX:65853200-65853600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chrX:65853200-65853800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chrX:65853200-65854200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chrX:65853200-65855400	Enhancers	Fetal Heart	heart
22	chrX:65853400-65853600	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chrX:65853400-65853800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chrX:65853400-65854200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chrX:65853400-65854600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chrX:65853400-65855400	Enhancers	HUES6 Cell Line	embryonic stem cell

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