Variant report

Variant	rs886618
Chromosome Location	chr22:30881781-30881782
allele	C/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	CTCF	chr22:30881175-30882004	HCT-116	colon:	n/a	chr22:30881538-30881559 chr22:30881546-30881556 chr22:30881545-30881558 chr22:30881544-30881560 chr22:30881512-30881521 chr22:30881543-30881561 chr22:30881549-30881558
2	RAD21	chr22:30881252-30881799	ECC-1	luminal epithelium:	n/a	chr22:30881541-30881560 chr22:30881543-30881555 chr22:30881545-30881555 chr22:30881544-30881557
3	RAD21	chr22:30881336-30881786	HepG2	liver:	n/a	chr22:30881541-30881560 chr22:30881543-30881555 chr22:30881545-30881555 chr22:30881544-30881557
4	RAD21	chr22:30881190-30881835	HCT-116	colon:	n/a	chr22:30881541-30881560 chr22:30881543-30881555 chr22:30881545-30881555 chr22:30881544-30881557
5	CTCF	chr22:30881385-30881947	GM12892	blood:	n/a	chr22:30881538-30881559 chr22:30881546-30881556 chr22:30881545-30881558 chr22:30881544-30881560 chr22:30881512-30881521 chr22:30881543-30881561 chr22:30881549-30881558
6	RUNX3	chr22:30881444-30881790	GM12878	blood:	n/a	n/a
7	MAZ	chr22:30881330-30881842	IMR90	lung:	n/a	n/a
8	CTCF	chr22:30881779-30881909	GM19240	blood:	n/a	n/a
9	CTCF	chr22:30881640-30881790	HAc	cerebellar:	n/a	n/a
10	RAD21	chr22:30881260-30881848	ECC-1	luminal epithelium:	n/a	chr22:30881541-30881560 chr22:30881543-30881555 chr22:30881545-30881555 chr22:30881544-30881557
11	CHD1	chr22:30881247-30881919	IMR90	lung:	n/a	n/a
12	ZNF263	chr22:30881372-30882430	HEK293-T-REx	kidney:	n/a	chr22:30881602-30881611
13	CTCF	chr22:30881336-30881860	H1-hESC	embryonic stem cell:	n/a	chr22:30881538-30881559 chr22:30881546-30881556 chr22:30881545-30881558 chr22:30881544-30881560 chr22:30881512-30881521 chr22:30881543-30881561 chr22:30881549-30881558
14	RAD21	chr22:30881268-30881869	HCT-116	colon:	n/a	chr22:30881541-30881560 chr22:30881543-30881555 chr22:30881545-30881555 chr22:30881544-30881557
15	SMC3	chr22:30881336-30881791	Hela-S3	cervix:	n/a	chr22:30881545-30881555 chr22:30881545-30881559 chr22:30881551-30881559
16	RAD21	chr22:30881306-30881783	H1-hESC	embryonic stem cell:	n/a	chr22:30881541-30881560 chr22:30881543-30881555 chr22:30881545-30881555 chr22:30881544-30881557
17	CTCF	chr22:30880760-30882176	SK-N-SH	brain:	n/a	chr22:30881538-30881559 chr22:30881546-30881556 chr22:30881545-30881558 chr22:30881544-30881560 chr22:30881512-30881521 chr22:30881543-30881561 chr22:30881549-30881558
18	CTCF	chr22:30881776-30881925	GM19239	blood:	n/a	n/a
19	RAD21	chr22:30881195-30881840	A549	lung:	n/a	chr22:30881541-30881560 chr22:30881543-30881555 chr22:30881545-30881555 chr22:30881544-30881557
20	RAD21	chr22:30881294-30881824	H1-hESC	embryonic stem cell:	n/a	chr22:30881541-30881560 chr22:30881543-30881555 chr22:30881545-30881555 chr22:30881544-30881557
21	CTCF	chr22:30881379-30881980	GM12891	blood:	n/a	chr22:30881538-30881559 chr22:30881546-30881556 chr22:30881545-30881558 chr22:30881544-30881560 chr22:30881512-30881521 chr22:30881543-30881561 chr22:30881549-30881558
22	CTCF	chr22:30881094-30881822	A549	lung:	n/a	chr22:30881538-30881559 chr22:30881546-30881556 chr22:30881545-30881558 chr22:30881544-30881560 chr22:30881512-30881521 chr22:30881543-30881561 chr22:30881549-30881558
23	CTCF	chr22:30881384-30881927	GM19238	blood:	n/a	chr22:30881538-30881559 chr22:30881546-30881556 chr22:30881545-30881558 chr22:30881544-30881560 chr22:30881512-30881521 chr22:30881543-30881561 chr22:30881549-30881558
24	MAX	chr22:30881307-30881852	A549	lung:	n/a	n/a
25	RAD21	chr22:30881152-30881905	SK-N-SH	brain:	n/a	chr22:30881541-30881560 chr22:30881543-30881555 chr22:30881545-30881555 chr22:30881544-30881557
26	CTCF	chr22:30881338-30881784	GM12878	blood:	n/a	chr22:30881538-30881559 chr22:30881546-30881556 chr22:30881545-30881558 chr22:30881544-30881560 chr22:30881512-30881521 chr22:30881543-30881561 chr22:30881549-30881558
27	CTCF	chr22:30881338-30881787	K562	blood:	n/a	chr22:30881538-30881559 chr22:30881546-30881556 chr22:30881545-30881558 chr22:30881544-30881560 chr22:30881512-30881521 chr22:30881543-30881561 chr22:30881549-30881558
28	RAD21	chr22:30881329-30881896	MCF-7	breast:	n/a	chr22:30881541-30881560 chr22:30881543-30881555 chr22:30881545-30881555 chr22:30881544-30881557
29	RCOR1	chr22:30881444-30881793	GM12878	blood:	n/a	n/a
30	RCOR1	chr22:30881524-30881805	K562	blood:	n/a	n/a
31	RAD21	chr22:30881340-30881800	A549	lung:	n/a	chr22:30881541-30881560 chr22:30881543-30881555 chr22:30881545-30881555 chr22:30881544-30881557
32	SMC3	chr22:30881136-30881908	SK-N-SH	brain:	n/a	chr22:30881545-30881555 chr22:30881545-30881559 chr22:30881551-30881559
33	RAD21	chr22:30881308-30881823	HepG2	liver:	n/a	chr22:30881541-30881560 chr22:30881543-30881555 chr22:30881545-30881555 chr22:30881544-30881557

No.	Distal block	Cell Line	Cell type
1	chr22:30840899..30842135-chr22:30881081..30882272,7	MCF-7	breast:
2	chr22:30786734..30787783-chr22:30881073..30882029,10	K562	blood:
3	chr22:30840805..30841805-chr22:30881139..30882175,5	MCF-7	breast:
4	chr22:30786828..30787681-chr22:30881079..30881999,5	MCF-7	breast:
5	chr22:30786809..30787721-chr22:30881123..30882274,5	MCF-7	breast:
6	chr22:30818688..30821603-chr22:30880263..30882823,2	MCF-7	breast:

Variant related genes	Relation type
SDC4P	TF binding region
ENSG00000242114	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10428025	0.83[ASN][1000 genomes]
rs12166447	0.83[ASN][1000 genomes]
rs12170920	0.83[ASN][1000 genomes]
rs5749109	0.88[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs5749115	0.83[ASN][1000 genomes]
rs5749117	0.83[ASN][1000 genomes]
rs5753168	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs5753178	0.83[ASN][1000 genomes]
rs5753180	0.83[ASN][1000 genomes]
rs5753181	0.83[ASN][1000 genomes]
rs5753183	0.83[ASN][1000 genomes]
rs62226963	0.83[ASN][1000 genomes]
rs7289983	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs8138701	0.86[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs8138980	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs9619116	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9621003	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9621016	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30874600-30894000	Weak transcription	Right Atrium	heart
2	chr22:30878000-30881800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr22:30879800-30882400	Enhancers	Gastric	stomach
4	chr22:30880600-30883400	Enhancers	Pancreas	Pancrea
5	chr22:30880800-30885600	Enhancers	Liver	Liver
6	chr22:30881200-30881800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr22:30881200-30881800	Enhancers	Fetal Intestine Large	intestine
8	chr22:30881200-30881800	Enhancers	Osteobl	bone
9	chr22:30881200-30882000	Enhancers	Brain Hippocampus Middle	brain
10	chr22:30881200-30882000	Enhancers	Spleen	Spleen
11	chr22:30881200-30882000	Enhancers	Dnd41	blood
12	chr22:30881400-30881800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr22:30881400-30881800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
14	chr22:30881400-30881800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr22:30881400-30881800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr22:30881400-30881800	Enhancers	Brain Angular Gyrus	brain
17	chr22:30881400-30881800	Enhancers	Brain Cingulate Gyrus	brain
18	chr22:30881400-30881800	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr22:30881400-30882000	Enhancers	Lung	lung
20	chr22:30881400-30882200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr22:30881400-30882400	Enhancers	Stomach Mucosa	stomach
22	chr22:30881400-30883400	Enhancers	Duodenum Mucosa	Duodenum
23	chr22:30881600-30881800	Enhancers	H9 Cell Line	embryonic stem cell
24	chr22:30881600-30882000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr22:30881600-30882000	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr22:30881600-30882000	Enhancers	A549	lung
27	chr22:30881600-30882200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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