Variant report

Variant	rs56686185
Chromosome Location	chr22:30117454-30117455
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	ZNF263	chr22:30117454-30117804	HEK293-T-REx	kidney:	n/a	n/a
2	ZBTB7A	chr22:30116593-30117503	ECC-1	luminal epithelium:	n/a	chr22:30116638-30116649
3	SUZ12	chr22:30115076-30117639	NT2-D1	testis:	n/a	n/a

Variant related genes	Relation type
ENSG00000232396	TF binding region
ENSG00000239446	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2527343	0.87[EUR][1000 genomes]
rs2527344	0.90[EUR][1000 genomes]
rs2527345	0.90[EUR][1000 genomes]
rs2527346	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763435	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv914963	chr22:30075052-30133579	Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv914964	chr22:30081715-30150549	Bivalent Enhancer Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv515720	chr22:30081715-30163526	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv914966	chr22:30088442-30138548	Weak transcription Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	esv1816879	chr22:30096309-30126906	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1065072	chr22:30102176-30155245	Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv471194	chr22:30103476-30128380	Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv471195	chr22:30103476-30128380	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv914967	chr22:30103476-30133579	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	esv3526937	chr22:30114552-30117950	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	esv3526938	chr22:30114552-30117950	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	esv3398420	chr22:30115152-30117775	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	esv3400132	chr22:30115377-30118325	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30115400-30118600	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr22:30115800-30126200	Weak transcription	Gastric	stomach
3	chr22:30116600-30117600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr22:30116600-30117600	Bivalent Enhancer	Fetal Stomach	stomach
5	chr22:30116600-30126400	Weak transcription	Aorta	Aorta
6	chr22:30116800-30117600	ZNF genes & repeats	Spleen	Spleen
7	chr22:30117000-30117600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
8	chr22:30117000-30117600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr22:30117000-30118000	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
10	chr22:30117000-30118400	Bivalent Enhancer	Fetal Brain Male	brain
11	chr22:30117000-30118600	Bivalent Enhancer	NH-A	brain
12	chr22:30117000-30137200	Weak transcription	HSMM	muscle
13	chr22:30117200-30117600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr22:30117200-30117600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
15	chr22:30117200-30117600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr22:30117200-30117600	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
17	chr22:30117200-30117800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
18	chr22:30117200-30117800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
19	chr22:30117200-30117800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr22:30117200-30118000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr22:30117200-30119400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr22:30117200-30126600	Weak transcription	Pancreas	Pancrea
23	chr22:30117200-30133800	Weak transcription	Right Atrium	heart
24	chr22:30117400-30117600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
25	chr22:30117400-30118600	Bivalent Enhancer	Brain Germinal Matrix	brain

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