Variant report

Variant	rs6005342
Chromosome Location	chr22:27639744-27639745
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs9625184	1.00[AMR][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	nsv917333	chr22:26931825-27692024	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	142 gene(s)	inside rSNPs	diseases
2	esv34168	chr22:27289097-27678031	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv3413125	chr22:27404463-28121577	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv459860	chr22:27527005-28181436	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv588872	chr22:27527005-28181436	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv1064910	chr22:27609597-27648408	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv834166	chr22:27628570-27814359	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:27635000-27639800	Enhancers	Fetal Intestine Small	intestine
2	chr22:27635000-27639800	Enhancers	Pancreas	Pancrea
3	chr22:27635000-27639800	Enhancers	Spleen	Spleen
4	chr22:27635000-27642200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr22:27635200-27639800	Enhancers	Fetal Intestine Large	intestine
6	chr22:27636000-27641800	Weak transcription	Fetal Kidney	kidney
7	chr22:27636200-27639800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr22:27637400-27639800	Enhancers	Fetal Stomach	stomach
9	chr22:27637600-27642000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr22:27638200-27643000	Weak transcription	Colon Smooth Muscle	Colon
11	chr22:27638200-27643000	Weak transcription	Right Atrium	heart
12	chr22:27638200-27643000	Weak transcription	HUVEC	blood vessel
13	chr22:27638400-27641200	Weak transcription	Ovary	ovary
14	chr22:27638600-27641200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr22:27639000-27646800	Weak transcription	Fetal Heart	heart
16	chr22:27639200-27639800	Enhancers	A549	lung
17	chr22:27639200-27640600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr22:27639200-27643400	Weak transcription	Fetal Brain Female	brain
19	chr22:27639400-27640000	Weak transcription	Brain Germinal Matrix	brain
20	chr22:27639400-27641000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr22:27639400-27641000	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr22:27639400-27642600	Weak transcription	Fetal Brain Male	brain
23	chr22:27639400-27643200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr22:27639400-27647000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr22:27639600-27643200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr22:27639600-27643600	Weak transcription	NH-A	brain

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