Variant report

Variant	rs16985950
Chromosome Location	chrX:109470496-109470497
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PBX3	chrX:109470033-109470690	SK-N-SH	brain:	n/a	n/a
2	GATA3	chrX:109469990-109470590	SK-N-SH	brain:	n/a	chrX:109470402-109470412 chrX:109470119-109470130
3	JUND	chrX:109470052-109470757	SK-N-SH	brain:	n/a	chrX:109470144-109470154 chrX:109470145-109470153 chrX:109470144-109470154 chrX:109470144-109470154 chrX:109470144-109470154
4	EP300	chrX:109470098-109470660	SK-N-SH_RA	brain:	n/a	chrX:109470486-109470493
5	TCF12	chrX:109469959-109470845	SK-N-SH	brain:	n/a	n/a
6	EP300	chrX:109470096-109470646	SK-N-SH_RA	brain:	n/a	chrX:109470486-109470493
7	PBX3	chrX:109470002-109470524	SK-N-SH	brain:	n/a	n/a
8	GATA3	chrX:109470016-109470674	SK-N-SH	brain:	n/a	chrX:109470402-109470412 chrX:109470119-109470130
9	FOSL2	chrX:109469957-109470590	SK-N-SH	brain:	n/a	chrX:109470144-109470154 chrX:109470145-109470153 chrX:109470144-109470154 chrX:109470144-109470154 chrX:109470144-109470154
10	FOS	chrX:109470020-109470594	HUVEC	blood vessel:	n/a	chrX:109470144-109470154 chrX:109470145-109470153 chrX:109470144-109470154 chrX:109470144-109470154 chrX:109470144-109470154
11	FOS	chrX:109470239-109470561	MCF10A-Er-Src	breast:	n/a	n/a
12	TCF12	chrX:109469898-109470825	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chrX:109468405..109470872-chrX:109560254..109562376,2	MCF-7	breast:
2	chrX:109469319..109470864-chrX:109561520..109563482,2	K562	blood:
3	chrX:109464474..109466310-chrX:109470307..109472390,2	K562	blood:
4	chrX:109457925..109460218-chrX:109469387..109471258,2	MCF-7	breast:

Variant related genes	Relation type
SNORD96B	TF binding region
ENSG00000101935	Chromatin interaction

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

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

rs_ID	r²[population]
rs10521527	0.83[MKK][hapmap]
rs12009207	0.81[MKK][hapmap]
rs12115909	1.00[MEX][hapmap]
rs12116084	1.00[ASW][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.91[YRI][hapmap]
rs12116355	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.82[YRI][hapmap]
rs16985968	1.00[MEX][hapmap]
rs16985992	1.00[MEX][hapmap]
rs17003963	0.83[YRI][hapmap]
rs6567848	1.00[MEX][hapmap]
rs7062603	0.84[ASW][hapmap];1.00[MEX][hapmap]
rs7887044	1.00[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	esv3369563	chrX:109079631-109573656	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	142 gene(s)	inside rSNPs	diseases
2	nsv518116	chrX:109424029-109630707	Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv530248	chrX:109436208-109743686	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 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:109445400-109472800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chrX:109445600-109472600	Weak transcription	Primary T cells fromperipheralblood	blood
3	chrX:109454200-109471800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chrX:109455400-109472200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chrX:109459800-109472200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chrX:109461000-109471000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chrX:109461200-109472600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chrX:109463600-109472600	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chrX:109464800-109472400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chrX:109464800-109472400	Weak transcription	A549	lung
11	chrX:109467000-109472600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chrX:109467400-109470800	Weak transcription	Left Ventricle	heart
13	chrX:109469000-109472000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chrX:109469600-109471000	Weak transcription	K562	blood
15	chrX:109469800-109470600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chrX:109469800-109471000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chrX:109469800-109472200	Enhancers	NHEK	skin
18	chrX:109470000-109471000	Enhancers	Hela-S3	cervix
19	chrX:109470000-109471200	Enhancers	HSMMtube	muscle
20	chrX:109470200-109470600	Enhancers	NH-A	brain
21	chrX:109470200-109471000	Enhancers	HMEC	breast
22	chrX:109470200-109471000	Enhancers	NHDF-Ad	bronchial
23	chrX:109470200-109472600	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chrX:109470200-109472600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chrX:109470400-109471000	Enhancers	HUVEC	blood vessel
26	chrX:109470400-109471400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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