Variant report

Variant	rs4542114
Chromosome Location	chrX:153709189-153709190
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chrX:153626135..153631801-chrX:153703936..153709269,13	K562	blood:
2	chrX:153597248..153601456-chrX:153704623..153709315,6	MCF-7	breast:
3	X:153657611-153671976..X:153701576-153715648	Hela-S3	cervix:
4	chrX:153624383..153633652-chrX:153704408..153721325,48	MCF-7	breast:
5	chrX:153624413..153633458-chrX:153703786..153709269,18	K562	blood:
6	chrX:153708819..153710866-chrX:154067775..154069439,2	K562	blood:
7	chrX:153598531..153600844-chrX:153707513..153710504,3	K562	blood:
8	chrX:153708943..153710743-chrX:153743180..153745044,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000147403	Chromatin interaction
ENSG00000196924	Chromatin interaction
ENSG00000203879	Chromatin interaction
ENSG00000207165	Chromatin interaction
ENSG00000013563	Chromatin interaction
ENSG00000071553	Chromatin interaction
ENSG00000071889	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1050047	0.86[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap]
rs12392447	0.86[CHB][hapmap];1.00[GIH][hapmap]
rs2315325	1.00[CHB][hapmap];0.89[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[MKK][hapmap]
rs5945100	0.84[JPT][hapmap]
rs5945195	0.86[CHB][hapmap]
rs5945429	0.86[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.82[JPT][hapmap]
rs5945431	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs5945433	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs5945434	0.86[CHB][hapmap];0.88[CHD][hapmap];0.88[GIH][hapmap]
rs5986979	0.86[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap]
rs5986981	0.86[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs5987266	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs5987267	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs7051615	0.86[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap]
rs7057286	0.86[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap]
rs7886727	0.86[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33199	chrX:152864376-153820241	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	276 gene(s)	inside rSNPs	diseases
2	nsv528291	chrX:152864376-153827637	Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	277 gene(s)	inside rSNPs	diseases
3	nsv915605	chrX:153333946-153783638	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
4	nsv519042	chrX:153348431-153829693	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	207 gene(s)	inside rSNPs	diseases
5	nsv532962	chrX:153564946-153870337	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	199 gene(s)	inside rSNPs	diseases
6	nsv532963	chrX:153576890-153822717	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	195 gene(s)	inside rSNPs	diseases
7	nsv530281	chrX:153622940-153783184	Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	153 gene(s)	inside rSNPs	diseases
8	nsv532964	chrX:153622940-153854307	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:153702000-153712600	Weak transcription	Gastric	stomach
2	chrX:153707200-153709800	Weak transcription	HepG2	liver
3	chrX:153707200-153711800	Weak transcription	Spleen	Spleen
4	chrX:153707200-153712800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chrX:153707200-153713600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chrX:153707200-153714200	Weak transcription	Ovary	ovary
7	chrX:153707600-153712800	Weak transcription	Aorta	Aorta
8	chrX:153707600-153713400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chrX:153707600-153713600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chrX:153707600-153714200	Weak transcription	Small Intestine	intestine
11	chrX:153707800-153711800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chrX:153707800-153712200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chrX:153707800-153712800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chrX:153707800-153712800	Weak transcription	HMEC	breast
15	chrX:153707800-153714000	Weak transcription	HSMMtube	muscle
16	chrX:153708000-153710200	Weak transcription	Fetal Muscle Leg	muscle
17	chrX:153708000-153710400	Weak transcription	Right Ventricle	heart
18	chrX:153708000-153710400	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chrX:153708000-153710600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chrX:153708000-153710800	Weak transcription	Brain Germinal Matrix	brain
21	chrX:153708000-153711000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chrX:153708000-153711800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chrX:153708000-153711800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chrX:153708000-153711800	Weak transcription	Liver	Liver
25	chrX:153708000-153711800	Weak transcription	Brain Cingulate Gyrus	brain
26	chrX:153708000-153711800	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chrX:153708000-153711800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chrX:153708000-153711800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chrX:153708000-153712000	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chrX:153708000-153712000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chrX:153708000-153712000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chrX:153708000-153712000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chrX:153708000-153712000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chrX:153708000-153712000	Weak transcription	Thymus	Thymus
35	chrX:153708000-153712400	Weak transcription	Brain Anterior Caudate	brain
36	chrX:153708000-153712400	Weak transcription	A549	lung
37	chrX:153708000-153712600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chrX:153708000-153712600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chrX:153708000-153712600	Weak transcription	Esophagus	oesophagus
40	chrX:153708000-153712600	Weak transcription	Left Ventricle	heart
41	chrX:153708000-153712800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chrX:153708000-153712800	Weak transcription	Brain Angular Gyrus	brain
43	chrX:153708000-153712800	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chrX:153708000-153712800	Weak transcription	Fetal Heart	heart
45	chrX:153708000-153712800	Weak transcription	Fetal Lung	lung
46	chrX:153708000-153712800	Weak transcription	HSMM	muscle
47	chrX:153708000-153712800	Weak transcription	NHEK	skin
48	chrX:153708000-153713000	Weak transcription	Muscle Satellite Cultured Cells	--
49	chrX:153708000-153713000	Weak transcription	HUVEC	blood vessel
50	chrX:153708000-153713000	Weak transcription	NHDF-Ad	bronchial

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