Variant report

Variant	rs6532188
Chromosome Location	chr4:90629934-90629935
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs17016074	1.00[EUR][1000 genomes]
rs17016083	1.00[EUR][1000 genomes]
rs17016100	1.00[EUR][1000 genomes]
rs17016107	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2882785	1.00[EUR][1000 genomes]
rs34094566	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34351491	1.00[EUR][1000 genomes]
rs34747217	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs35683448	1.00[EUR][1000 genomes]
rs35771728	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs35921673	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3775438	0.81[AFR][1000 genomes]
rs3857054	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3857056	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3857060	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4635786	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57267227	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57928386	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61378184	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6532185	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6532186	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6532187	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6814056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6842093	1.00[EUR][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	nsv470051	chr4:89644931-90643144	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	esv2830400	chr4:90085456-90922432	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv1012406	chr4:90167781-91166787	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv949454	chr4:90272120-91156917	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv461580	chr4:90572322-90630901	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
6	nsv594819	chr4:90572322-90630901	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
7	nsv522681	chr4:90603044-90630901	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:90609800-90631800	Weak transcription	HMEC	breast
2	chr4:90616600-90630200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:90628400-90630000	Enhancers	Dnd41	blood
4	chr4:90628400-90631400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr4:90628600-90630800	Enhancers	Primary T cells from cord blood	blood
6	chr4:90628600-90631400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr4:90628800-90630000	Weak transcription	Thymus	Thymus
8	chr4:90629000-90630000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:90629000-90630400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr4:90629200-90631400	Enhancers	HUVEC	blood vessel
11	chr4:90629600-90630800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:90629600-90630800	Enhancers	Brain Cingulate Gyrus	brain
13	chr4:90629600-90631000	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr4:90629600-90631200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr4:90629800-90630000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr4:90629800-90630000	Enhancers	Brain Hippocampus Middle	brain
17	chr4:90629800-90630000	Enhancers	Brain Substantia Nigra	brain
18	chr4:90629800-90630200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr4:90629800-90630400	Enhancers	Brain Angular Gyrus	brain
20	chr4:90629800-90630400	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr4:90629800-90630600	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr4:90629800-90630600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr4:90629800-90630600	Enhancers	Fetal Heart	heart
24	chr4:90629800-90630600	Enhancers	Fetal Kidney	kidney
25	chr4:90629800-90630600	Enhancers	HepG2	liver
26	chr4:90629800-90630800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:90629800-90630800	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr4:90629800-90630800	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr4:90629800-90631000	Enhancers	Fetal Thymus	thymus

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