Variant report

Variant	rs78506
Chromosome Location	chr22:33414164-33414165
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	RAD21	chr22:33414004-33414979	SK-N-SH	brain:	n/a	chr22:33414418-33414437 chr22:33414422-33414431 chr22:33414420-33414427 chr22:33414421-33414434 chr22:33414422-33414434
2	SMC3	chr22:33413923-33414958	SK-N-SH	brain:	n/a	chr22:33414419-33414433
3	CTCF	chr22:33413987-33414714	A549	lung:	n/a	chr22:33414420-33414433 chr22:33414417-33414435 chr22:33414422-33414430 chr22:33414419-33414440 chr22:33414418-33414434
4	RCOR1	chr22:33414032-33414527	HepG2	liver:	n/a	n/a
5	CTCF	chr22:33414140-33414290	GM06990	blood:	n/a	n/a
6	CTCF	chr22:33414120-33414270	GM12867	blood:	n/a	n/a
7	RAD21	chr22:33414158-33414633	H1-hESC	embryonic stem cell:	n/a	chr22:33414418-33414437 chr22:33414422-33414431 chr22:33414420-33414427 chr22:33414421-33414434 chr22:33414422-33414434
8	RAD21	chr22:33414154-33414648	HCT-116	colon:	n/a	chr22:33414418-33414437 chr22:33414422-33414431 chr22:33414420-33414427 chr22:33414421-33414434 chr22:33414422-33414434
9	RAD21	chr22:33414149-33414729	A549	lung:	n/a	chr22:33414418-33414437 chr22:33414422-33414431 chr22:33414420-33414427 chr22:33414421-33414434 chr22:33414422-33414434
10	CTCF	chr22:33414020-33414170	GM12868	blood:	n/a	n/a
11	CTCF	chr22:33414155-33414684	MCF-7	breast:	n/a	chr22:33414420-33414433 chr22:33414417-33414435 chr22:33414422-33414430 chr22:33414419-33414440 chr22:33414418-33414434
12	CTCF	chr22:33413861-33414919	SK-N-SH	brain:	n/a	chr22:33414420-33414433 chr22:33414417-33414435 chr22:33414422-33414430 chr22:33414419-33414440 chr22:33414418-33414434

No.	Distal block	Cell Line	Cell type
1	chr22:33414029..33414830-chr22:33605775..33606331,3	MCF-7	breast:
2	chr22:33413961..33415197-chr22:33598824..33600370,12	MCF-7	breast:
3	22:32920308-32927723..22:33412874-33414483	K562	blood:
4	chr22:33414130..33415076-chr22:33444854..33445742,4	MCF-7	breast:
5	chr22:33413946..33415146-chr22:33522626..33523535,7	MCF-7	breast:
6	chr22:33413852..33414538-chr22:33522698..33523447,2	MCF-7	breast:

Variant related genes	Relation type
SYN3	TF binding region
ENSG00000185666	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1012082	0.89[CHB][hapmap];0.89[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs114509	0.96[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs133926	0.81[CEU][hapmap]
rs133931	0.80[CEU][hapmap]
rs133934	0.84[CEU][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs133936	0.80[EUR][1000 genomes]
rs133937	0.84[CEU][hapmap];0.95[GIH][hapmap];0.82[MEX][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs133938	0.84[CEU][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs133941	0.80[EUR][1000 genomes]
rs133942	0.84[CHB][hapmap];0.91[CHD][hapmap];0.82[ASN][1000 genomes]
rs133943	0.84[CHB][hapmap];0.90[CHD][hapmap];0.82[ASN][1000 genomes]
rs133944	0.96[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs133945	1.00[ASW][hapmap];0.96[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.81[LWK][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs133946	1.00[ASW][hapmap];0.96[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.81[LWK][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs133948	0.84[CHB][hapmap];0.84[ASN][1000 genomes]
rs133949	1.00[ASW][hapmap];0.96[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.95[LWK][hapmap];0.95[MEX][hapmap];0.89[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs133956	0.89[ASN][1000 genomes]
rs133957	0.89[ASN][1000 genomes]
rs133959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs133962	0.89[ASN][1000 genomes]
rs133963	0.87[ASN][1000 genomes]
rs133964	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs133965	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs133966	0.88[CEU][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs470006	0.96[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.83[JPT][hapmap];0.86[MEX][hapmap];0.89[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs470007	0.84[CHB][hapmap];0.84[ASN][1000 genomes]
rs470008	0.95[CHB][hapmap];0.91[CHD][hapmap];0.86[ASN][1000 genomes]
rs470010	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs470011	0.89[ASN][1000 genomes]
rs5754371	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5754377	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs713832	0.89[ASN][1000 genomes]
rs71699	0.84[CHB][hapmap];0.82[CHD][hapmap];0.82[ASN][1000 genomes]
rs739143	0.85[CEU][hapmap];0.95[GIH][hapmap];0.86[MEX][hapmap];0.82[EUR][1000 genomes]
rs86666	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531568	chr22:33336868-33480272	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv531587	chr22:33346710-33809338	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv948523	chr22:33414164-34098417	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 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	chr22:33402400-33414200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr22:33402600-33419400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr22:33402800-33414600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr22:33403000-33420000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr22:33403600-33415600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr22:33403800-33414600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr22:33403800-33417600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr22:33405400-33414600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr22:33406400-33414600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr22:33407400-33417000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr22:33410400-33417200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr22:33414000-33414800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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