Variant report

Variant	rs45471598
Chromosome Location	chr22:28193097-28193098
allele	A/G
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	SIN3A	chr22:28192673-28193878	H1-hESC	embryonic stem cell:	n/a	n/a
2	SUZ12	chr22:28192683-28196611	H1-hESC	embryonic stem cell:	n/a	n/a
3	E2F6	chr22:28193077-28196932	H1-hESC	embryonic stem cell:	n/a	chr22:28196692-28196701
4	CTBP2	chr22:28191810-28196248	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:28191305..28194827-chr22:28195041..28197783,3	K562	blood:

Variant related genes	Relation type
MN1	TF binding region
ENSG00000169184	Chromatin interaction

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

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

rs_ID	r²[population]
rs7291272	0.83[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	nsv1059972	chr22:28089263-28227579	Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv829144	chr22:28172266-28209317	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv518700	chr22:28188203-28203750	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv3438284	chr22:28189802-28201700	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv829145	chr22:28190900-28207081	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv829146	chr22:28192430-28197955	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28186200-28196000	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr22:28186800-28196600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr22:28188600-28198600	Active TSS	Aorta	Aorta
4	chr22:28188800-28193400	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr22:28189400-28198600	Active TSS	Brain Anterior Caudate	brain
6	chr22:28190600-28195800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr22:28191000-28193400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr22:28191200-28193200	Transcr. at gene 5' and 3'	NH-A	brain
9	chr22:28191400-28195400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr22:28191800-28195400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr22:28192000-28193400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr22:28192000-28194600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr22:28192200-28193400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr22:28192200-28193400	Genic enhancers	Placenta Amnion	Placenta Amnion
15	chr22:28192200-28194600	Weak transcription	Pancreas	Pancrea
16	chr22:28192200-28196800	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
17	chr22:28192400-28194000	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
18	chr22:28192400-28194200	Bivalent Enhancer	Fetal Intestine Small	intestine
19	chr22:28192400-28194200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
20	chr22:28192400-28194800	Genic enhancers	Ovary	ovary
21	chr22:28192400-28195800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr22:28192600-28193400	Genic enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr22:28192600-28193600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
24	chr22:28192600-28193600	Active TSS	Hela-S3	cervix
25	chr22:28192600-28193800	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
26	chr22:28192600-28194200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
27	chr22:28192600-28194200	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr22:28192600-28195400	Transcr. at gene 5' and 3'	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr22:28192600-28195400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr22:28192600-28195400	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
31	chr22:28192600-28196200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
32	chr22:28192600-28197000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
33	chr22:28192800-28193200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr22:28192800-28193400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
35	chr22:28192800-28193600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
36	chr22:28192800-28193600	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
37	chr22:28192800-28193800	Strong transcription	NHLF	lung
38	chr22:28192800-28194000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
39	chr22:28192800-28194000	Enhancers	Lung	lung
40	chr22:28192800-28194200	ZNF genes & repeats	Spleen	Spleen
41	chr22:28192800-28194600	Active TSS	Right Atrium	heart
42	chr22:28193000-28193200	Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr22:28193000-28193200	Weak transcription	Adipose Nuclei	Adipose
44	chr22:28193000-28193200	Enhancers	Esophagus	oesophagus
45	chr22:28193000-28193400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
46	chr22:28193000-28193400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr22:28193000-28193400	Bivalent/Poised TSS	Colonic Mucosa	Colon
48	chr22:28193000-28193400	Strong transcription	NHEK	skin
49	chr22:28193000-28193600	Weak transcription	Right Ventricle	heart
50	chr22:28193000-28193800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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