Variant report

Variant	rs760556
Chromosome Location	chr22:32598187-32598188
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	CTCF	chr22:32598100-32598250	SAEC	small airway:	n/a	n/a
2	CTCF	chr22:32598160-32598310	HFF-Myc	foreskin:	n/a	n/a
3	CTCF	chr22:32598100-32598250	HAc	cerebellar:	n/a	n/a
4	RAD21	chr22:32598172-32598944	SK-N-SH	brain:	n/a	chr22:32598586-32598605
5	CTCF	chr22:32598009-32599919	SK-N-SH	brain:	n/a	chr22:32598585-32598603
6	SMC3	chr22:32598083-32598984	SK-N-SH	brain:	n/a	chr22:32598587-32598601 chr22:32598598-32598608

No.	Distal block	Cell Line	Cell type
1	chr22:32598171..32598996-chr22:32751498..32752149,2	MCF-7	breast:
2	chr22:32598096..32598999-chr22:32661829..32662840,5	MCF-7	breast:
3	22:31936958-31958600..22:32594665-32606395	K562	blood:
4	chr22:32598041..32599019-chr22:32774399..32775272,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000242082	TF binding region
ENSG00000214093	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12160108	0.88[ASN][1000 genomes]
rs16990001	0.94[ASN][1000 genomes]
rs16990004	0.86[ASN][1000 genomes]
rs57468334	0.94[ASN][1000 genomes]
rs5998300	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948789	chr22:32462505-32764760	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv1065175	chr22:32467617-32761093	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv544680	chr22:32467617-32761093	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	esv2830423	chr22:32477718-32767825	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	esv2422247	chr22:32486448-32788258	Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
6	nsv834178	chr22:32490449-32677521	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	nsv459874	chr22:32574274-32866934	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
8	nsv588895	chr22:32574274-32866934	Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
9	nsv3597	chr22:32588424-32632724	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
10	esv2753006	chr22:32592120-32719481	Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32595400-32598200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr22:32595600-32598400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr22:32595600-32598600	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr22:32596000-32598400	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr22:32596200-32598400	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr22:32596200-32598800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr22:32596400-32598200	Enhancers	Primary T cells fromperipheralblood	blood
8	chr22:32596400-32598200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr22:32596400-32598400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
10	chr22:32596400-32598400	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr22:32596400-32598600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr22:32596600-32598200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr22:32596600-32598800	Weak transcription	Spleen	Spleen
14	chr22:32597000-32598400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr22:32597000-32598400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr22:32597800-32598200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr22:32597800-32600800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
18	chr22:32598000-32598200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
19	chr22:32598000-32598400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
20	chr22:32598000-32598400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
21	chr22:32598000-32598600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr22:32598000-32598600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood

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