Variant report

Variant	rs429075
Chromosome Location	chr11:72302191-72302192
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF143	chr11:72302058-72302349	Hela-S3	cervix:	n/a	n/a
2	ZNF143	chr11:72302035-72302326	K562	blood:	n/a	n/a
3	RCOR1	chr11:72302050-72302496	Hela-S3	cervix:	n/a	n/a
4	RCOR1	chr11:72302045-72302230	K562	blood:	n/a	n/a
5	RCOR1	chr11:72302128-72302281	K562	blood:	n/a	n/a
6	ZNF143	chr11:72302166-72302236	GM12878	blood:	n/a	n/a
7	ZNF143	chr11:72302056-72302346	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:72301230..72305336-chr11:72305460..72307843,3	K562	blood:
2	chr11:72301882..72302760-chr11:72394504..72395418,2	MCF-7	breast:
3	chr11:72300263..72302231-chr11:72352736..72355134,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARAP1-2	chr11:72301977-72302400	NONHSAT022779

No data

Variant related genes	Relation type
PDE2A	TF binding region
ENSG00000255808	Chromatin interaction
ENSG00000186642	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10793036	0.87[ASN][1000 genomes]
rs11235546	0.87[ASN][1000 genomes]
rs1135029	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11605051	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1467135	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs168173	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1980089	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1980090	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2280098	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs341049	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs341086	0.88[ASN][1000 genomes]
rs341088	0.91[ASN][1000 genomes]
rs3781938	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3781939	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4943939	0.91[ASN][1000 genomes]
rs56350365	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61895571	0.87[ASN][1000 genomes]
rs90409	0.86[ASN][1000 genomes]
rs907850	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1794740	chr11:72021720-72332931	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
2	esv1806140	chr11:72268466-72546175	Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
3	esv1832864	chr11:72270965-72389125	Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
4	nsv832207	chr11:72272750-72469122	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
5	nsv468633	chr11:72281884-72336564	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
6	nsv468634	chr11:72281884-72336564	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
7	nsv555406	chr11:72281884-72336564	Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
8	nsv523601	chr11:72281884-72430935	Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
9	nsv468635	chr11:72284569-72336564	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
10	nsv555407	chr11:72284569-72336564	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
11	nsv1042182	chr11:72294042-72348491	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 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	chr11:72295200-72303000	Weak transcription	Brain Hippocampus Middle	brain
2	chr11:72296600-72304000	Weak transcription	Brain Angular Gyrus	brain
3	chr11:72299200-72302200	Active TSS	Hela-S3	cervix
4	chr11:72300200-72303600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr11:72300600-72302800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr11:72300600-72302800	Bivalent Enhancer	Fetal Brain Male	brain
7	chr11:72300600-72303000	Bivalent Enhancer	Fetal Thymus	thymus
8	chr11:72300800-72302200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr11:72300800-72302400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr11:72301200-72302800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr11:72301400-72302200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr11:72301400-72302200	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
13	chr11:72301400-72303400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr11:72301400-72304200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr11:72301600-72302200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
16	chr11:72301600-72302200	Weak transcription	Spleen	Spleen
17	chr11:72301600-72303000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
18	chr11:72301600-72304000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
19	chr11:72301800-72302400	Bivalent Enhancer	Fetal Brain Female	brain
20	chr11:72301800-72303200	Bivalent Enhancer	Thymus	Thymus
21	chr11:72301800-72303800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr11:72301800-72304600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr11:72301800-72305400	Weak transcription	Right Atrium	heart
24	chr11:72302000-72302200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
25	chr11:72302000-72302200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
26	chr11:72302000-72302200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
27	chr11:72302000-72303000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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