Variant report

Variant	rs8141141
Chromosome Location	chr22:32810112-32810113
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr22:32809731-32810167	HCT-116	colon:	n/a	n/a
2	CTCF	chr22:32809668-32810248	SK-N-SH	brain:	n/a	n/a
3	RAD21	chr22:32809682-32810271	SK-N-SH	brain:	n/a	n/a
4	RAD21	chr22:32809723-32810138	A549	lung:	n/a	n/a
5	RAD21	chr22:32809833-32810113	HepG2	liver:	n/a	n/a
6	CTCF	chr22:32809737-32810143	MCF-7	breast:	n/a	n/a
7	SMC3	chr22:32809771-32810372	SK-N-SH	brain:	n/a	n/a
8	RAD21	chr22:32809806-32810131	SK-N-SH_RA	brain:	n/a	n/a
9	RAD21	chr22:32809809-32810181	MCF-7	breast:	n/a	n/a
10	SMC3	chr22:32809781-32810129	HepG2	liver:	n/a	n/a
11	CTCF	chr22:32809761-32810113	K562	blood:	n/a	n/a
12	CTCF	chr22:32809980-32810130	HFF-Myc	foreskin:	n/a	n/a
13	CTCF	chr22:32809694-32810267	A549	lung:	n/a	n/a
14	CTCF	chr22:32809745-32810130	MCF-7	breast:	n/a	n/a
15	CTCF	chr22:32810040-32810190	AoAF	blood vessel:	n/a	n/a
16	GATA1	chr22:32810082-32810519	PBDE	blood:	n/a	n/a
17	EBF1	chr22:32809819-32810137	GM12878	blood:	n/a	n/a
18	CTCF	chr22:32809663-32810239	HCT-116	colon:	n/a	n/a
19	RAD21	chr22:32809726-32810149	HepG2	liver:	n/a	n/a
20	CTCF	chr22:32809770-32810118	GM12878	blood:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:32806505..32810377-chr22:32871743..32874140,3	K562	blood:
2	chr22:32808877..32811425-chr22:32872228..32873793,2	K562	blood:
3	22:32292186-32294405..22:32809335-32812035	Hela-S3	cervix:
4	22:32477762-32487457..22:32809335-32812035	Hela-S3	cervix:
5	22:32012966-32043914..22:32809335-32812035	Hela-S3	cervix:
6	22:32809335-32812035..22:32872511-32874561	Hela-S3	cervix:
7	22:32188129-32210582..22:32809335-32812035	Hela-S3	cervix:
8	22:32809335-32812035..22:32860159-32865649	H1-hESC	embryonic stem cell:	embryo
9	chr22:32809030..32810169-chr22:32839774..32840840,4	MCF-7	breast:
10	22:32334260-32338420..22:32809335-32812035	K562	blood:
11	22:32809335-32812035..22:32868055-32872511	Hela-S3	cervix:
12	chr22:32807562..32810232-chr22:32869269..32871220,2	K562	blood:
13	22:32053085-32061138..22:32809335-32812035	Hela-S3	cervix:
14	22:32809335-32812035..22:33452523-33459358	Hela-S3	cervix:

No data

Variant related genes	Relation type
RTCB	TF binding region
ENSG00000185666	Chromatin interaction
ENSG00000100170	Chromatin interaction
ENSG00000184459	Chromatin interaction
ENSG00000100225	Chromatin interaction
ENSG00000100150	Chromatin interaction
ENSG00000241878	Chromatin interaction
ENSG00000128254	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs13110	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16990340	1.00[AMR][1000 genomes]
rs16990363	1.00[AMR][1000 genomes]
rs35003092	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55726161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56088001	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56164445	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56241612	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56257111	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56273567	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56300131	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56304230	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56393759	1.00[AMR][1000 genomes]
rs56835150	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56870764	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56946080	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56965504	0.81[AFR][1000 genomes]
rs57040236	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57313377	0.84[AFR][1000 genomes]
rs57467712	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57526188	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57670657	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58329990	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58747874	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58917959	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59540071	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59540535	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59570290	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59814970	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5998441	1.00[AMR][1000 genomes]
rs60284718	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60614590	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61036457	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61060987	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61702109	1.00[AMR][1000 genomes]
rs7284713	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7284743	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7285750	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7288743	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7289526	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7289656	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7290295	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7293064	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881645	1.00[AMR][1000 genomes]
rs73881659	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881660	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881661	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881662	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881663	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881664	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881665	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881666	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881668	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881669	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881670	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881671	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881673	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881674	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881675	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881676	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881677	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881678	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881679	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881680	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881682	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881683	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881684	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881685	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881686	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881688	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881689	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881690	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881691	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881694	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881695	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881696	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881697	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881701	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881702	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8139487	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8139992	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8141096	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv1064737	chr22:32603912-32829725	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	nsv1066118	chr22:32779078-32815334	Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1055701	chr22:32806595-32845403	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32808200-32818000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr22:32808400-32818000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr22:32808800-32810200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr22:32808800-32810600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr22:32809000-32814000	Weak transcription	GM12878-XiMat	blood
6	chr22:32809000-32817600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr22:32809600-32810600	Enhancers	K562	blood
8	chr22:32810000-32810200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr22:32810000-32810200	Enhancers	Liver	Liver
10	chr22:32810000-32810400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr22:32810000-32810400	Enhancers	HMEC	breast
12	chr22:32810000-32810600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr22:32810000-32810600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr22:32810000-32810600	Enhancers	NHEK	skin
15	chr22:32810000-32810800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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