Variant report

Variant	rs4836373
Chromosome Location	chr5:127787610-127787611
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10035972	1.00[CHD][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs10040225	0.94[JPT][hapmap];0.91[YRI][hapmap];0.82[ASN][1000 genomes]
rs1004965	1.00[CHD][hapmap];0.83[JPT][hapmap]
rs10068001	0.82[ASN][1000 genomes]
rs10073062	0.83[JPT][hapmap]
rs10078570	0.82[ASN][1000 genomes]
rs10463844	0.94[JPT][hapmap]
rs11241957	0.94[JPT][hapmap]
rs11241959	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1435514	0.94[JPT][hapmap];0.91[YRI][hapmap];0.82[ASN][1000 genomes]
rs17615552	0.82[ASN][1000 genomes]
rs17677453	0.82[ASN][1000 genomes]
rs17677603	0.94[JPT][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs1858079	1.00[CHD][hapmap];0.94[JPT][hapmap];0.80[MKK][hapmap];0.91[YRI][hapmap];0.85[ASN][1000 genomes]
rs2263510	0.82[CEU][hapmap];0.94[JPT][hapmap]
rs2409539	0.94[JPT][hapmap];0.91[YRI][hapmap];0.82[ASN][1000 genomes]
rs331067	0.80[JPT][hapmap];0.90[YRI][hapmap]
rs331078	0.82[CEU][hapmap];0.94[JPT][hapmap];0.88[LWK][hapmap];0.85[MKK][hapmap];0.83[TSI][hapmap];0.81[EUR][1000 genomes]
rs331083	0.81[CEU][hapmap];0.94[JPT][hapmap];0.88[LWK][hapmap];0.86[MKK][hapmap];0.83[TSI][hapmap]
rs331087	0.85[CEU][hapmap];0.94[JPT][hapmap];0.88[LWK][hapmap];0.86[MKK][hapmap];0.80[TSI][hapmap]
rs3805647	0.89[JPT][hapmap]
rs4100587	0.82[ASN][1000 genomes]
rs4145849	0.94[JPT][hapmap]
rs4385259	0.82[ASN][1000 genomes]
rs4835947	0.81[ASN][1000 genomes]
rs4835948	0.83[JPT][hapmap]
rs4836377	0.82[ASN][1000 genomes]
rs4836378	0.83[JPT][hapmap]
rs6595827	1.00[CHD][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs6595828	0.94[JPT][hapmap];0.91[YRI][hapmap];0.81[ASN][1000 genomes]
rs6595829	1.00[CHD][hapmap];0.83[JPT][hapmap]
rs6595835	0.96[CHD][hapmap];0.83[JPT][hapmap]
rs6859216	0.94[JPT][hapmap];0.90[YRI][hapmap];0.82[ASN][1000 genomes]
rs6860114	0.82[ASN][1000 genomes]
rs6860901	0.85[CHD][hapmap]
rs6864831	0.83[JPT][hapmap]
rs6865322	0.84[CHD][hapmap]
rs6873438	0.85[ASN][1000 genomes]
rs6882394	0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs6892983	0.96[CHD][hapmap];0.94[JPT][hapmap];0.81[MKK][hapmap];0.91[YRI][hapmap];0.82[ASN][1000 genomes]
rs6898280	0.82[ASN][1000 genomes]
rs6898449	0.82[ASN][1000 genomes]
rs764368	1.00[CHD][hapmap];0.94[JPT][hapmap];0.82[MKK][hapmap];0.91[YRI][hapmap]
rs7713256	0.96[CHD][hapmap];0.83[JPT][hapmap]
rs7719223	1.00[CHD][hapmap];0.94[JPT][hapmap];0.82[MKK][hapmap];0.91[YRI][hapmap];0.82[ASN][1000 genomes]
rs7721622	0.88[JPT][hapmap];1.00[YRI][hapmap];0.82[ASN][1000 genomes]
rs7725788	0.82[ASN][1000 genomes]
rs7726680	1.00[CHD][hapmap];0.94[JPT][hapmap];0.80[MKK][hapmap];0.91[YRI][hapmap];0.82[ASN][1000 genomes]
rs7734008	0.94[JPT][hapmap];0.91[YRI][hapmap];0.82[ASN][1000 genomes]
rs892863	0.83[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531991	chr5:127624564-127966085	Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv599698	chr5:127744825-127850855	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
3	nsv1015650	chr5:127745955-127866566	Strong transcription ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
4	esv2763497	chr5:127745955-127882468	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv530822	chr5:127777365-127900742	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
6	esv3413249	chr5:127786153-127789351	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127739200-127789000	Weak transcription	Left Ventricle	heart
2	chr5:127760600-127791400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr5:127772600-127807600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:127772800-127799800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:127773000-127788600	Weak transcription	Fetal Heart	heart
6	chr5:127773000-127809400	Weak transcription	HMEC	breast
7	chr5:127773400-127830000	Weak transcription	NHEK	skin
8	chr5:127777200-127793000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr5:127777400-127789000	Weak transcription	Fetal Stomach	stomach
10	chr5:127779400-127807400	Weak transcription	Fetal Kidney	kidney
11	chr5:127780400-127806400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:127780800-127805400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr5:127782400-127796200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:127784000-127788800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr5:127784000-127791000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr5:127784000-127795000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr5:127784000-127826800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr5:127784200-127788800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:127784800-127792000	Weak transcription	Placenta	Placenta
20	chr5:127785800-127788800	Weak transcription	Right Ventricle	heart
21	chr5:127786000-127797800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr5:127786200-127788400	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr5:127786400-127791600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr5:127786400-127799000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr5:127787000-127793000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr5:127787200-127789400	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr5:127787200-127791200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:127787200-127798200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr5:127787400-127806200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr5:127787600-127789400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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