Variant report

Variant	rs16989681
Chromosome Location	chrX:31526639-31526640
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	JUND	chrX:31526339-31526952	SK-N-SH	brain:	n/a	chrX:31526916-31526928
2	RAD21	chrX:31526429-31526831	SK-N-SH_RA	brain:	n/a	n/a
3	EP300	chrX:31526237-31526994	SK-N-SH	brain:	n/a	chrX:31526898-31526912
4	EP300	chrX:31526038-31527132	SK-N-SH	brain:	n/a	chrX:31526898-31526912
5	TCF12	chrX:31526135-31527048	SK-N-SH	brain:	n/a	n/a
6	PBX3	chrX:31526259-31526906	SK-N-SH	brain:	n/a	n/a
7	TEAD4	chrX:31526317-31526997	SK-N-SH	brain:	n/a	n/a
8	EP300	chrX:31526275-31526906	SK-N-SH_RA	brain:	n/a	n/a
9	POLR2A	chrX:31526493-31526674	SK-N-SH	brain:	n/a	n/a
10	NFIC	chrX:31526266-31526931	SK-N-SH	brain:	n/a	n/a
11	JUND	chrX:31526317-31526864	SK-N-SH	brain:	n/a	n/a
12	RAD21	chrX:31526605-31526863	SK-N-SH_RA	brain:	n/a	n/a
13	GATA3	chrX:31526253-31527055	SK-N-SH	brain:	n/a	chrX:31526629-31526638 chrX:31526625-31526641
14	EP300	chrX:31526262-31526894	SK-N-SH_RA	brain:	n/a	n/a
15	GATA3	chrX:31526185-31526975	SK-N-SH	brain:	n/a	chrX:31526629-31526638 chrX:31526625-31526641
16	POLR2A	chrX:31526425-31526832	SK-N-SH	brain:	n/a	n/a
17	PBX3	chrX:31526256-31526900	SK-N-SH	brain:	n/a	n/a
18	TCF12	chrX:31526099-31527048	SK-N-SH	brain:	n/a	n/a
19	EP300	chrX:31526301-31527061	SK-N-SH	brain:	n/a	chrX:31526898-31526912

Variant related genes	Relation type
DMD	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10521972	0.81[JPT][hapmap]
rs12011023	0.92[CHB][hapmap]
rs2404685	0.87[JPT][hapmap]
rs3788893	1.00[CEU][hapmap]
rs6527088	0.92[CHB][hapmap]
rs6653851	0.92[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.89[TSI][hapmap]
rs7066525	0.92[CHB][hapmap]
rs7876815	0.92[CHB][hapmap]
rs7892295	0.84[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869389	chrX:31207964-31963300	Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv481896	chrX:31212683-31546984	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised 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	3 gene(s)	inside rSNPs	diseases
3	esv3407256	chrX:31214281-31548379	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv481964	chrX:31270220-31672751	Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv491930	chrX:31449215-31543991	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv531098	chrX:31462522-31824884	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv481719	chrX:31470100-31807209	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv525349	chrX:31491980-31527555	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv527085	chrX:31491980-31577462	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv522266	chrX:31502157-31554545	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	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:31524200-31527400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chrX:31525200-31529200	Enhancers	Fetal Heart	heart
3	chrX:31525400-31527400	Enhancers	Brain Hippocampus Middle	brain
4	chrX:31526000-31527200	Enhancers	HSMM	muscle
5	chrX:31526000-31527400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chrX:31526000-31527400	Enhancers	HMEC	breast
7	chrX:31526000-31527400	Enhancers	Osteobl	bone
8	chrX:31526000-31527600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chrX:31526000-31528200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chrX:31526000-31528400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chrX:31526200-31527000	Enhancers	Brain Angular Gyrus	brain
12	chrX:31526200-31527000	Enhancers	HUVEC	blood vessel
13	chrX:31526200-31527400	Enhancers	Brain Substantia Nigra	brain
14	chrX:31526200-31528200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chrX:31526200-31528600	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chrX:31526400-31526800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chrX:31526400-31527000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chrX:31526400-31527200	Enhancers	Colon Smooth Muscle	Colon
19	chrX:31526400-31527200	Enhancers	Fetal Stomach	stomach
20	chrX:31526400-31527400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chrX:31526400-31527400	Enhancers	NH-A	brain
22	chrX:31526400-31527600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chrX:31526400-31527600	Enhancers	Muscle Satellite Cultured Cells	--
24	chrX:31526400-31528400	Enhancers	Fetal Lung	lung
25	chrX:31526600-31526800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chrX:31526600-31527000	Enhancers	HSMMtube	muscle
27	chrX:31526600-31527400	Active TSS	Brain Anterior Caudate	brain
28	chrX:31526600-31528200	Enhancers	Brain Cingulate Gyrus	brain

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