Variant report

Variant	rs7688651
Chromosome Location	chr4:87259805-87259806
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:87256963..87259889-chr4:87277472..87279132,2	K562	blood:

Variant related genes	Relation type
ENSG00000109339	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1031739	0.92[CEU][hapmap];0.89[CHB][hapmap];0.81[JPT][hapmap];0.81[AMR][1000 genomes]
rs1460752	0.85[AMR][1000 genomes]
rs17408832	1.00[CEU][hapmap];0.82[CHB][hapmap];0.84[AMR][1000 genomes]
rs17409478	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17409637	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17417758	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17449147	1.00[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17449582	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17451111	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2869423	1.00[CEU][hapmap];0.82[CHB][hapmap];0.88[AMR][1000 genomes]
rs2869433	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2869434	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35103650	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4299551	1.00[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap];0.88[AMR][1000 genomes]
rs4521313	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4693140	0.92[CEU][hapmap];0.94[CHB][hapmap];0.84[JPT][hapmap];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4693762	0.85[AMR][1000 genomes]
rs4693763	1.00[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap];0.88[AMR][1000 genomes]
rs4693769	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55681806	0.81[AMR][1000 genomes]
rs55724430	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56255533	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57869802	0.88[AMR][1000 genomes]
rs58538747	0.85[AMR][1000 genomes]
rs60753208	0.88[AMR][1000 genomes]
rs62305543	0.86[AMR][1000 genomes]
rs62305546	0.85[AMR][1000 genomes]
rs62307365	0.88[AMR][1000 genomes]
rs62307366	0.88[AMR][1000 genomes]
rs62307367	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62307409	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs62307454	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62308361	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62308365	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6827483	1.00[CEU][hapmap];0.82[CHB][hapmap];0.85[AMR][1000 genomes]
rs72663972	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7376405	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594786	chr4:87076360-87609320	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats 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 lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv999470	chr4:87165663-87514552	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	nsv537164	chr4:87165663-87514552	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	nsv934210	chr4:87197339-87325578	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv594787	chr4:87221827-87888667	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv461574	chr4:87239764-87279096	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv594788	chr4:87239764-87279096	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7688651	MAPK10	cis	lesional skin	skin_eQTL

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87242000-87270000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr4:87247600-87273400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:87253000-87267200	Weak transcription	Fetal Brain Male	brain
4	chr4:87253200-87270800	Weak transcription	Brain Angular Gyrus	brain
5	chr4:87253800-87261200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:87254800-87265200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:87254800-87274000	Weak transcription	Brain Hippocampus Middle	brain
8	chr4:87256200-87275800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:87258200-87260400	Enhancers	NHDF-Ad	bronchial
10	chr4:87258600-87260400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:87258600-87261000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr4:87258600-87261000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr4:87258600-87261000	Enhancers	Osteobl	bone
14	chr4:87258800-87260600	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr4:87258800-87260800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr4:87258800-87261000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr4:87258800-87261000	Enhancers	NHLF	lung
18	chr4:87259000-87261000	Enhancers	HSMMtube	muscle
19	chr4:87259200-87260400	Enhancers	Brain Anterior Caudate	brain
20	chr4:87259200-87260800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr4:87259200-87260800	Enhancers	HMEC	breast
22	chr4:87259200-87260800	Enhancers	NH-A	brain
23	chr4:87259200-87261000	Enhancers	HSMM	muscle
24	chr4:87259200-87274200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr4:87259400-87260400	Enhancers	Ovary	ovary
26	chr4:87259400-87260600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr4:87259400-87260600	Enhancers	Brain Cingulate Gyrus	brain
28	chr4:87259400-87260600	Enhancers	Hela-S3	cervix
29	chr4:87259400-87260800	Enhancers	A549	lung
30	chr4:87259400-87260800	Enhancers	HUVEC	blood vessel
31	chr4:87259400-87261000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr4:87259600-87260400	Enhancers	Aorta	Aorta
33	chr4:87259600-87260600	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr4:87259600-87260600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr4:87259600-87261000	Enhancers	NHEK	skin
36	chr4:87259800-87260200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr4:87259800-87260400	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr4:87259800-87260800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr4:87259800-87262800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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