Variant report

Variant	rs5997567
Chromosome Location	chr22:30485340-30485341
allele	G/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	CEBPB	chr22:30484956-30485452	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr22:30485340-30485448	GM10266	blood:	n/a	n/a
3	CEBPB	chr22:30484785-30485456	HCT-116	colon:	n/a	n/a
4	CTCF	chr22:30484826-30485350	IMR90	lung:	n/a	chr22:30485102-30485118 chr22:30485096-30485117 chr22:30485025-30485046 chr22:30485030-30485048 chr22:30485101-30485119
5	CTCF	chr22:30484849-30485360	MCF-7	breast:	n/a	chr22:30485102-30485118 chr22:30485096-30485117 chr22:30485025-30485046 chr22:30485030-30485048 chr22:30485101-30485119
6	RAD21	chr22:30484740-30485440	SK-N-SH	brain:	n/a	chr22:30485133-30485145 chr22:30485028-30485047 chr22:30485099-30485118
7	RAD21	chr22:30484750-30485397	HCT-116	colon:	n/a	chr22:30485133-30485145 chr22:30485028-30485047 chr22:30485099-30485118
8	CEBPB	chr22:30485012-30485952	A549	lung:	n/a	chr22:30485787-30485798
9	CEBPB	chr22:30485084-30485948	IMR90	lung:	n/a	chr22:30485787-30485798
10	CEBPB	chr22:30484897-30485508	A549	lung:	n/a	n/a
11	RAD21	chr22:30484724-30485419	ECC-1	luminal epithelium:	n/a	chr22:30485133-30485145 chr22:30485028-30485047 chr22:30485099-30485118
12	CTCF	chr22:30484873-30485341	H1-hESC	embryonic stem cell:	n/a	chr22:30485102-30485118 chr22:30485096-30485117 chr22:30485025-30485046 chr22:30485030-30485048 chr22:30485101-30485119
13	SMC3	chr22:30484739-30485365	SK-N-SH	brain:	n/a	chr22:30485103-30485117 chr22:30485032-30485046
14	CTCF	chr22:30484650-30485514	A549	lung:	n/a	chr22:30485102-30485118 chr22:30485096-30485117 chr22:30485025-30485046 chr22:30485030-30485048 chr22:30485101-30485119
15	RAD21	chr22:30484686-30485436	HCT-116	colon:	n/a	chr22:30485133-30485145 chr22:30485028-30485047 chr22:30485099-30485118
16	RAD21	chr22:30484761-30485410	A549	lung:	n/a	chr22:30485133-30485145 chr22:30485028-30485047 chr22:30485099-30485118
17	CTCF	chr22:30484535-30485381	HCT-116	colon:	n/a	chr22:30485102-30485118 chr22:30485096-30485117 chr22:30485025-30485046 chr22:30485030-30485048 chr22:30485101-30485119
18	NFIC	chr22:30484826-30485415	SK-N-SH	brain:	n/a	n/a
19	RAD21	chr22:30484736-30485415	A549	lung:	n/a	chr22:30485133-30485145 chr22:30485028-30485047 chr22:30485099-30485118
20	ZNF384	chr22:30484920-30485457	K562	blood:	n/a	n/a
21	RAD21	chr22:30484809-30485358	IMR90	lung:	n/a	chr22:30485133-30485145 chr22:30485028-30485047 chr22:30485099-30485118
22	RAD21	chr22:30484763-30485382	H1-hESC	embryonic stem cell:	n/a	chr22:30485133-30485145 chr22:30485028-30485047 chr22:30485099-30485118
23	CEBPB	chr22:30484979-30485918	K562	blood:	n/a	chr22:30485787-30485798
24	CTCF	chr22:30484718-30485341	MCF-7	breast:	n/a	chr22:30485102-30485118 chr22:30485096-30485117 chr22:30485025-30485046 chr22:30485030-30485048 chr22:30485101-30485119
25	CTCF	chr22:30484859-30485351	K562	blood:	n/a	chr22:30485102-30485118 chr22:30485096-30485117 chr22:30485025-30485046 chr22:30485030-30485048 chr22:30485101-30485119
26	CTCF	chr22:30484812-30485357	ECC-1	luminal epithelium:	n/a	chr22:30485102-30485118 chr22:30485096-30485117 chr22:30485025-30485046 chr22:30485030-30485048 chr22:30485101-30485119
27	CEBPB	chr22:30484881-30485953	Hela-S3	cervix:	n/a	chr22:30485787-30485798
28	CTCF	chr22:30484726-30485510	SK-N-SH	brain:	n/a	chr22:30485102-30485118 chr22:30485096-30485117 chr22:30485025-30485046 chr22:30485030-30485048 chr22:30485101-30485119
29	CEBPB	chr22:30484954-30485414	ECC-1	luminal epithelium:	n/a	n/a
30	RAD21	chr22:30484735-30485422	ECC-1	luminal epithelium:	n/a	chr22:30485133-30485145 chr22:30485028-30485047 chr22:30485099-30485118
31	RAD21	chr22:30484783-30485341	Hela-S3	cervix:	n/a	chr22:30485133-30485145 chr22:30485028-30485047 chr22:30485099-30485118
32	RAD21	chr22:30484764-30485348	MCF-7	breast:	n/a	chr22:30485133-30485145 chr22:30485028-30485047 chr22:30485099-30485118
33	CTCF	chr22:30484755-30485403	K562	blood:	n/a	chr22:30485102-30485118 chr22:30485096-30485117 chr22:30485025-30485046 chr22:30485030-30485048 chr22:30485101-30485119
34	CTCF	chr22:30484670-30485360	HCT-116	colon:	n/a	chr22:30485102-30485118 chr22:30485096-30485117 chr22:30485025-30485046 chr22:30485030-30485048 chr22:30485101-30485119

No.	Distal block	Cell Line	Cell type
1	chr22:30097693..30098380-chr22:30484799..30485447,2	MCF-7	breast:
2	chr22:30098089..30098947-chr22:30484640..30485526,4	MCF-7	breast:
3	chr22:30485128..30485832-chr22:30651755..30652708,3	MCF-7	breast:
4	chr22:30097244..30097815-chr22:30485015..30485549,2	MCF-7	breast:
5	chr22:29985610..29986509-chr22:30484668..30485434,3	K562	blood:
6	chr22:30092151..30092731-chr22:30484958..30485506,2	K562	blood:
7	chr22:29986049..29986619-chr22:30484791..30485600,2	MCF-7	breast:
8	chr22:30031527..30032428-chr22:30484594..30485517,5	K562	blood:

Variant related genes	Relation type
HORMAD2	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11090592	0.83[ASN][1000 genomes]
rs11090597	1.00[ASN][1000 genomes]
rs11704206	0.83[ASN][1000 genomes]
rs11705048	0.96[ASN][1000 genomes]
rs916782	0.87[ASN][1000 genomes]
rs9620944	0.87[ASN][1000 genomes]
rs9620948	1.00[ASN][1000 genomes]
rs9625910	0.87[ASN][1000 genomes]
rs9625914	0.95[ASN][1000 genomes]
rs9625922	1.00[ASN][1000 genomes]
rs9625924	1.00[ASN][1000 genomes]
rs9625930	0.98[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	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
2	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

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30475800-30485400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr22:30483800-30493000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr22:30484400-30486600	Enhancers	Dnd41	blood
4	chr22:30484800-30485400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr22:30484800-30485600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr22:30485000-30485400	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr22:30485000-30485600	Active TSS	A549	lung
8	chr22:30485000-30486000	Enhancers	Liver	Liver
9	chr22:30485200-30485400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr22:30485200-30485400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr22:30485200-30485400	Enhancers	NHEK	skin
12	chr22:30485200-30485800	Active TSS	Osteobl	bone

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