Variant report

Variant	rs6551632
Chromosome Location	chr4:62398485-62398486
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1565901	0.88[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2219343	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56197239	0.96[EUR][1000 genomes]
rs56236124	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6551631	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6813884	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6840819	0.96[EUR][1000 genomes]
rs6849316	0.96[EUR][1000 genomes]

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	nsv868844	chr4:62241702-62497248	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv2753138	chr4:62271444-62442507	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1005770	chr4:62344379-62398798	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv537109	chr4:62344379-62398798	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv461377	chr4:62368762-62883431	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv594328	chr4:62368762-62883431	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr4:62396600-62398600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr4:62397000-62398800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:62397000-62399200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr4:62397000-62406800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:62397800-62398600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:62397800-62398800	Enhancers	Brain Substantia Nigra	brain
7	chr4:62397800-62399000	Enhancers	Brain Angular Gyrus	brain
8	chr4:62397800-62399000	Enhancers	Fetal Kidney	kidney
9	chr4:62397800-62399200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr4:62397800-62399200	Enhancers	Placenta Amnion	Placenta Amnion
11	chr4:62398000-62398600	Enhancers	Fetal Muscle Leg	muscle
12	chr4:62398000-62398600	Active TSS	Stomach Smooth Muscle	stomach
13	chr4:62398200-62398600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr4:62398200-62398600	Enhancers	Aorta	Aorta
15	chr4:62398200-62398600	Enhancers	Brain Cingulate Gyrus	brain
16	chr4:62398200-62398600	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr4:62398200-62399000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr4:62398200-62399000	Enhancers	HMEC	breast
19	chr4:62398400-62398600	Flanking Active TSS	Brain Anterior Caudate	brain
20	chr4:62398400-62398600	Enhancers	Brain Hippocampus Middle	brain
21	chr4:62398400-62398600	Active TSS	Fetal Lung	lung
22	chr4:62398400-62398600	Enhancers	Right Atrium	heart
23	chr4:62398400-62398800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr4:62398400-62398800	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr4:62398400-62399000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr4:62398400-62399000	Enhancers	NHEK	skin
27	chr4:62398400-62399200	Enhancers	Fetal Intestine Small	intestine
28	chr4:62398400-62399200	Enhancers	NH-A	brain

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