Variant report

Variant	rs10030622
Chromosome Location	chr4:99458028-99458029
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs17027701	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1881450	0.82[JPT][hapmap]
rs28618327	0.96[AMR][1000 genomes]
rs28784902	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4554081	0.82[JPT][hapmap]
rs4699347	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4699649	0.96[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4699653	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6532743	0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6824330	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7679987	0.82[JPT][hapmap]
rs7691924	0.82[JPT][hapmap];0.87[AMR][1000 genomes]
rs8180171	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9991048	0.82[JPT][hapmap];0.86[AMR][1000 genomes]
rs9993039	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529623	chr4:98501338-99460166	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	esv2754250	chr4:99094922-99527122	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1004181	chr4:99208152-99529576	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99440400-99458400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:99445200-99461800	Weak transcription	HMEC	breast
3	chr4:99445400-99465400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr4:99446000-99467400	Weak transcription	Fetal Stomach	stomach
5	chr4:99446800-99461600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr4:99448200-99461000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:99449400-99461200	Weak transcription	NHEK	skin
8	chr4:99449400-99464200	Weak transcription	Fetal Brain Female	brain
9	chr4:99449800-99467400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:99450200-99458400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr4:99450200-99467400	Weak transcription	Osteobl	bone
12	chr4:99450400-99461800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr4:99450400-99465200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr4:99450800-99458800	Weak transcription	NHLF	lung
15	chr4:99450800-99468000	Weak transcription	HSMM	muscle
16	chr4:99451600-99458800	Weak transcription	Brain Hippocampus Middle	brain
17	chr4:99451800-99458200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr4:99457000-99458200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
19	chr4:99457000-99459600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr4:99457200-99458400	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr4:99457200-99458400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr4:99457200-99458400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr4:99457400-99458200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr4:99457400-99458400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr4:99457400-99458400	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr4:99457400-99458600	Enhancers	H1 Cell Line	embryonic stem cell
27	chr4:99457400-99459000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr4:99457600-99458600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr4:99457800-99458400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr4:99457800-99458800	Weak transcription	Ovary	ovary
31	chr4:99457800-99459200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr4:99458000-99458200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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