Variant report

Variant	rs62306413
Chromosome Location	chr4:55898980-55898981
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs13105577	0.87[EUR][1000 genomes]
rs13111365	0.93[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs34003005	0.93[EUR][1000 genomes]
rs34222805	0.85[EUR][1000 genomes]
rs34728762	0.87[EUR][1000 genomes]
rs35095184	0.86[EUR][1000 genomes]
rs56180527	0.93[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs56404029	0.93[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs62306414	0.91[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs6826167	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs71599665	0.97[EUR][1000 genomes]
rs71599666	0.93[AFR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526344	chr4:55522488-56231119	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv829939	chr4:55856771-56005011	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv432603	chr4:55877236-55970782	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv524342	chr4:55891531-55921535	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55895800-55904600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr4:55896400-55904400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:55896800-55905000	Enhancers	HMEC	breast
4	chr4:55897800-55900000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:55898000-55902400	Weak transcription	NHEK	skin
6	chr4:55898200-55899000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr4:55898200-55900400	Enhancers	Left Ventricle	heart
8	chr4:55898200-55902200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:55898400-55899200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr4:55898400-55899800	Enhancers	Fetal Intestine Large	intestine
11	chr4:55898400-55900000	Enhancers	Fetal Intestine Small	intestine
12	chr4:55898600-55899000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr4:55898600-55899200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr4:55898600-55899200	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr4:55898600-55900000	Enhancers	Placenta	Placenta
16	chr4:55898600-55900200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr4:55898600-55900400	Enhancers	Lung	lung
18	chr4:55898600-55900400	Enhancers	Placenta Amnion	Placenta Amnion
19	chr4:55898600-55900800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr4:55898800-55899000	Enhancers	H1 Cell Line	embryonic stem cell
21	chr4:55898800-55899200	Weak transcription	Right Atrium	heart
22	chr4:55898800-55899400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr4:55898800-55899600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr4:55898800-55899800	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr4:55898800-55900200	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr4:55898800-55900600	Enhancers	Fetal Lung	lung
27	chr4:55898800-55900800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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