Variant report

Variant	rs73485634
Chromosome Location	chr11:62525412-62525413
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr11:62525330-62525616	H1-hESC	embryonic stem cell:	n/a	n/a
2	CHD1	chr11:62525270-62525509	H1-hESC	embryonic stem cell:	n/a	n/a
3	YY1	chr11:62525328-62525813	H1-hESC	embryonic stem cell:	n/a	n/a
4	EGR1	chr11:62525297-62525663	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr11:62525248-62525585	H1-hESC	embryonic stem cell:	n/a	n/a
6	YY1	chr11:62525372-62525819	H1-hESC	embryonic stem cell:	n/a	n/a
7	SP1	chr11:62525237-62526025	H1-hESC	embryonic stem cell:	n/a	n/a
8	HDAC2	chr11:62525238-62525670	H1-hESC	embryonic stem cell:	n/a	n/a
9	MYC	chr11:62525368-62525869	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr11:62525322-62525587	H1-hESC	embryonic stem cell:	n/a	n/a
11	TAF1	chr11:62525174-62525697	H1-hESC	embryonic stem cell:	n/a	n/a
12	GTF2F1	chr11:62525380-62525632	H1-hESC	embryonic stem cell:	n/a	n/a
13	SIN3AK20	chr11:62525208-62525587	H1-hESC	embryonic stem cell:	n/a	n/a
14	SIN3A	chr11:62525207-62526187	H1-hESC	embryonic stem cell:	n/a	n/a
15	ELF1	chr11:62525300-62525801	HepG2	liver:	n/a	n/a
16	SP1	chr11:62525121-62526096	H1-hESC	embryonic stem cell:	n/a	n/a
17	TCF12	chr11:62525233-62525678	H1-hESC	embryonic stem cell:	n/a	n/a
18	JUND	chr11:62525230-62526051	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr11:62525373-62525543	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr11:62525285-62525604	H1-hESC	embryonic stem cell:	n/a	n/a
21	TBP	chr11:62525305-62525672	H1-hESC	embryonic stem cell:	n/a	n/a
22	CHD2	chr11:62525303-62525780	H1-hESC	embryonic stem cell:	n/a	n/a
23	GABPA	chr11:62525348-62525632	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr11:62525117-62525861	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr11:62525212-62525618	H1-hESC	embryonic stem cell:	n/a	n/a
26	TAF7	chr11:62525151-62525634	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:62521182..62523872-chr11:62524089..62526695,2	K562	blood:
2	chr11:62524721..62529764-chr11:62607028..62611019,8	K562	blood:
3	chr11:62437093..62439510-chr11:62523883..62526012,2	K562	blood:
4	chr11:62493351..62498967-chr11:62525383..62529651,6	K562	blood:
5	chr11:62519528..62525971-chr11:62571539..62574867,10	K562	blood:
6	chr11:62431946..62440629-chr11:62523095..62533975,14	K562	blood:
7	chr11:62432670..62435030-chr11:62523095..62525735,2	K562	blood:
8	chr11:62493179..62496136-chr11:62524630..62526883,2	K562	blood:

No data

Variant related genes	Relation type
POLR2G	TF binding region
ZBTB3	TF binding region
ENSG00000185670	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000255432	Chromatin interaction
ENSG00000214756	Chromatin interaction
ENSG00000204922	Chromatin interaction
ENSG00000162194	Chromatin interaction
ENSG00000206597	Chromatin interaction
ENSG00000214753	Chromatin interaction
ENSG00000234857	Chromatin interaction
ENSG00000162222	Chromatin interaction
ENSG00000162231	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11231123	1.00[EUR][1000 genomes]
rs11231220	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11828907	1.00[EUR][1000 genomes]
rs12270342	1.00[AMR][1000 genomes]
rs12288417	1.00[AMR][1000 genomes]
rs12290152	1.00[AMR][1000 genomes]
rs12292281	1.00[AMR][1000 genomes]
rs12295052	1.00[AMR][1000 genomes]
rs12295516	1.00[AMR][1000 genomes]
rs28400288	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34320415	1.00[EUR][1000 genomes]
rs56994557	1.00[AMR][1000 genomes]
rs58003814	1.00[AMR][1000 genomes]
rs58505493	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58792209	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59143369	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61088491	1.00[AMR][1000 genomes]
rs73483955	1.00[AMR][1000 genomes]
rs73483965	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73483978	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73485621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73485689	1.00[AMR][1000 genomes]
rs73487820	1.00[AMR][1000 genomes]
rs73487823	1.00[AMR][1000 genomes]
rs73487824	1.00[AMR][1000 genomes]
rs73487852	1.00[AMR][1000 genomes]
rs73487868	1.00[AMR][1000 genomes]
rs73500265	1.00[EUR][1000 genomes]
rs73500293	1.00[EUR][1000 genomes]
rs73502105	1.00[EUR][1000 genomes]
rs73502120	1.00[EUR][1000 genomes]
rs73502144	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	nsv915636	chr11:62016992-62713565	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1441 gene(s)	inside rSNPs	diseases
2	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised 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 miRNA miRNA target site	1433 gene(s)	inside rSNPs	diseases
3	nsv532284	chr11:62220043-62630253	Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1401 gene(s)	inside rSNPs	diseases
4	nsv497903	chr11:62330308-62608042	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	489 gene(s)	inside rSNPs	diseases
5	nsv897623	chr11:62438819-62603916	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	215 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62522200-62525800	Weak transcription	Brain Angular Gyrus	brain
2	chr11:62522200-62528800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr11:62522200-62529000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr11:62522400-62527800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:62522400-62528400	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr11:62522400-62528400	Weak transcription	Primary B cells from peripheral blood	blood
7	chr11:62522400-62528400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr11:62522400-62528400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr11:62522400-62528600	Weak transcription	Fetal Muscle Leg	muscle
10	chr11:62522400-62529000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr11:62522400-62529000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr11:62522600-62528400	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr11:62522800-62528400	Weak transcription	Dnd41	blood
14	chr11:62523200-62528400	Weak transcription	K562	blood
15	chr11:62523200-62528600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr11:62524000-62525800	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr11:62524600-62525600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr11:62524600-62525600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr11:62524600-62525800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:62524600-62525800	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr11:62524600-62525800	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr11:62524600-62526200	Active TSS	H9 Cell Line	embryonic stem cell
23	chr11:62524800-62525800	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr11:62524800-62525800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr11:62525000-62525600	Active TSS	H1 Cell Line	embryonic stem cell
26	chr11:62525200-62525600	Enhancers	Brain Anterior Caudate	brain
27	chr11:62525200-62526200	Enhancers	Brain Hippocampus Middle	brain
28	chr11:62525400-62525600	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr11:62525400-62525600	Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr11:62525400-62525600	Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr11:62525400-62525600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr11:62525400-62525600	Flanking Active TSS	Brain Cingulate Gyrus	brain
33	chr11:62525400-62525600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
34	chr11:62525400-62525600	Flanking Active TSS	Brain Substantia Nigra	brain
35	chr11:62525400-62526000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr11:62525400-62526000	Flanking Active TSS	HepG2	liver
37	chr11:62525400-62526200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell

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