Variant report

Variant	rs59254906
Chromosome Location	chr22:30632836-30632837
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	POLR2A	chr22:30630835-30633239	A549	lung:	n/a	n/a
2	MAZ	chr22:30631453-30632951	IMR90	lung:	n/a	n/a
3	POLR2A	chr22:30631062-30645095	IMR90	lung:	n/a	n/a
4	POLR2A	chr22:30630665-30633168	ECC-1	luminal epithelium:	n/a	n/a
5	MAX	chr22:30630531-30632926	A549	lung:	n/a	n/a
6	POLR2A	chr22:30630611-30633138	ECC-1	luminal epithelium:	n/a	n/a
7	TCF12	chr22:30630767-30632947	ECC-1	luminal epithelium:	n/a	chr22:30631759-30631766 chr22:30632180-30632190

Variant related genes	Relation type
ENSG00000232530	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs73881415	1.00[AMR][1000 genomes]
rs73881416	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881417	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881421	1.00[AMR][1000 genomes]
rs73881422	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	nsv834173	chr22:30515092-30658277	Enhancers ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv432239	chr22:30580161-30669883	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats 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
3	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	nsv914968	chr22:30610570-30693581	Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv914969	chr22:30619599-30691631	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv914970	chr22:30619599-30850395	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
7	nsv834174	chr22:30619760-30746915	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30625200-30637000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr22:30630400-30633000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr22:30630400-30633200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr22:30630400-30633600	Enhancers	Fetal Stomach	stomach
5	chr22:30630400-30634800	Enhancers	HSMMtube	muscle
6	chr22:30630400-30634800	Enhancers	NH-A	brain
7	chr22:30630600-30633000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr22:30630600-30633200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr22:30630600-30633400	Enhancers	Muscle Satellite Cultured Cells	--
10	chr22:30630800-30633000	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr22:30630800-30633200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr22:30630800-30635000	Enhancers	Placenta	Placenta
13	chr22:30630800-30635600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr22:30630800-30636600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr22:30631000-30633000	Enhancers	Osteobl	bone
16	chr22:30631400-30633800	Weak transcription	Fetal Intestine Large	intestine
17	chr22:30631400-30637400	Weak transcription	Fetal Brain Male	brain
18	chr22:30631400-30639800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr22:30631400-30641600	Weak transcription	Right Atrium	heart
20	chr22:30631600-30633000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr22:30631600-30634000	Enhancers	A549	lung
22	chr22:30631600-30635000	Weak transcription	Esophagus	oesophagus
23	chr22:30631600-30636400	Enhancers	HSMM	muscle
24	chr22:30631800-30634600	Weak transcription	Stomach Mucosa	stomach
25	chr22:30631800-30634800	Weak transcription	Gastric	stomach
26	chr22:30631800-30635000	Weak transcription	Duodenum Mucosa	Duodenum
27	chr22:30631800-30639400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr22:30632000-30636600	Weak transcription	Colonic Mucosa	Colon
29	chr22:30632000-30638600	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr22:30632000-30641400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr22:30632200-30634000	Weak transcription	Ovary	ovary
32	chr22:30632200-30634600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr22:30632400-30633000	ZNF genes & repeats	Fetal Intestine Small	intestine
34	chr22:30632400-30633600	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr22:30632400-30633800	Weak transcription	Fetal Muscle Trunk	muscle
36	chr22:30632400-30634000	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr22:30632400-30634400	Weak transcription	Fetal Thymus	thymus
38	chr22:30632400-30634800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr22:30632400-30638600	Weak transcription	Spleen	Spleen
40	chr22:30632400-30639600	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr22:30632400-30640800	Weak transcription	Lung	lung
42	chr22:30632600-30633600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr22:30632600-30634200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr22:30632600-30634200	Weak transcription	Fetal Kidney	kidney
45	chr22:30632600-30634400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr22:30632600-30634400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr22:30632600-30634400	Weak transcription	Fetal Lung	lung
48	chr22:30632600-30639400	Weak transcription	NHDF-Ad	bronchial
49	chr22:30632600-30641000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr22:30632600-30641400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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