Variant report

Variant	rs1997930
Chromosome Location	chr22:27857172-27857173
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr22:27856598-27858615	IMR90	lung:	n/a	n/a
2	FOS	chr22:27856871-27857267	HUVEC	blood vessel:	n/a	chr22:27857072-27857083

Variant related genes	Relation type
ENSG00000227880	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs2009947	0.91[ASN][1000 genomes]
rs4822882	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5752552	1.00[ASN][1000 genomes]
rs5752556	0.94[ASN][1000 genomes]
rs5752558	0.94[ASN][1000 genomes]
rs5752559	0.94[ASN][1000 genomes]
rs5762160	0.97[ASN][1000 genomes]
rs5762162	0.82[ASN][1000 genomes]
rs5762163	0.82[ASN][1000 genomes]
rs5762164	0.93[ASN][1000 genomes]
rs5762166	0.94[ASN][1000 genomes]
rs5762167	0.89[ASN][1000 genomes]
rs5762168	0.88[ASN][1000 genomes]
rs5762169	0.89[ASN][1000 genomes]
rs5762170	0.89[ASN][1000 genomes]
rs5762171	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5762172	0.89[ASN][1000 genomes]
rs5762173	0.89[ASN][1000 genomes]
rs5762174	0.89[ASN][1000 genomes]
rs6005455	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv834167	chr22:27758395-27910985	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv459864	chr22:27760086-27865344	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv588875	chr22:27760086-27865344	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv471192	chr22:27821656-27865344	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv459865	chr22:27852183-27867567	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv588876	chr22:27852183-27867567	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:27851200-27857400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr22:27851200-27857400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr22:27851200-27857400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr22:27852600-27858400	Enhancers	Placenta Amnion	Placenta Amnion
5	chr22:27853800-27857200	Weak transcription	A549	lung
6	chr22:27853800-27857400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr22:27854800-27860200	Enhancers	Fetal Brain Male	brain
8	chr22:27855000-27857400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr22:27855200-27857400	Enhancers	Fetal Stomach	stomach
10	chr22:27855200-27859200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr22:27855400-27857200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr22:27855400-27859400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr22:27855800-27857600	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr22:27855800-27859600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr22:27856000-27857200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr22:27856000-27857400	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr22:27856000-27857600	Enhancers	Osteobl	bone
18	chr22:27856000-27857800	Enhancers	NHDF-Ad	bronchial
19	chr22:27856000-27858000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr22:27856000-27858200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr22:27856000-27858600	Enhancers	NHLF	lung
22	chr22:27856000-27859000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr22:27856000-27859200	Enhancers	Brain Anterior Caudate	brain
24	chr22:27856000-27859400	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr22:27856000-27859400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr22:27856000-27859400	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr22:27856000-27859800	Enhancers	Adipose Nuclei	Adipose
28	chr22:27856200-27857200	Weak transcription	Brain Hippocampus Middle	brain
29	chr22:27856200-27857800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr22:27856200-27857800	Enhancers	HSMM	muscle
31	chr22:27856200-27858200	Enhancers	Brain Substantia Nigra	brain
32	chr22:27856200-27858600	Enhancers	HSMMtube	muscle
33	chr22:27856200-27859000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr22:27856200-27859400	Enhancers	NH-A	brain
35	chr22:27856200-27859600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr22:27856400-27857400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr22:27856400-27857400	Weak transcription	Aorta	Aorta
38	chr22:27856400-27858200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr22:27856400-27858400	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr22:27856400-27859200	Enhancers	Muscle Satellite Cultured Cells	--
41	chr22:27856400-27859400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr22:27856400-27859400	Enhancers	Brain Cingulate Gyrus	brain
43	chr22:27856600-27858400	Enhancers	H1 Cell Line	embryonic stem cell
44	chr22:27856600-27858400	Enhancers	NHEK	skin
45	chr22:27856600-27858600	Enhancers	HMEC	breast
46	chr22:27856600-27859000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr22:27856600-27859200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr22:27856600-27860000	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr22:27856800-27857800	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr22:27856800-27858000	Weak transcription	Fetal Brain Female	brain

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