Variant report

Variant	rs4841523
Chromosome Location	chr8:11203651-11203652
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3A	chr8:11203552-11203740	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr8:11203581-11205779	K562	blood:	n/a	n/a
3	POLR2A	chr8:11203560-11205332	K562	blood:	n/a	n/a
4	CTCF	chr8:11203520-11203670	GM12866	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:11202670..11208385-chr8:11211112..11215163,10	K562	blood:
2	chr8:11200722..11203684-chr8:11734586..11737466,2	K562	blood:
3	chr8:11193886..11197724-chr8:11199871..11205497,8	K562	blood:
4	chr8:11203206..11204716-chr8:11251549..11254468,2	K562	blood:
5	chr8:11202880..11204738-chr8:11213241..11216075,2	K562	blood:
6	chr8:11202546..11204675-chr8:11207385..11211000,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AF131216.5.1-1	chr8:11203257-11204149	ENSG00000255020.1

No data

Variant related genes	Relation type
TDH	TF binding region
ENSG00000154316	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1036383	0.82[EUR][1000 genomes]
rs11250126	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12545783	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12549648	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17153128	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2060460	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2060461	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2060462	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2293854	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2572401	0.82[EUR][1000 genomes]
rs2572403	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2736261	0.82[EUR][1000 genomes]
rs2736262	0.82[EUR][1000 genomes]
rs35367123	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3808501	0.86[EUR][1000 genomes]
rs3808516	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4840558	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4841520	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4841521	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4841522	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61762306	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs956662	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv831233	chr8:11046854-11234384	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1022525	chr8:11066191-11309356	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv539474	chr8:11066191-11309356	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv1033312	chr8:11126800-11252170	Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	esv1821756	chr8:11169178-11217587	Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv890354	chr8:11176147-11266131	Bivalent Enhancer Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
10	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	nsv890355	chr8:11202154-11219334	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv890356	chr8:11202154-11223022	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr8:11194800-11204200	Weak transcription	Brain Anterior Caudate	brain
2	chr8:11202800-11204400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:11202800-11204400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:11202800-11206200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr8:11202800-11207200	Active TSS	Pancreas	Pancrea
6	chr8:11203000-11204200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
7	chr8:11203000-11204400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr8:11203400-11203800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
9	chr8:11203600-11203800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr8:11203600-11203800	Genic enhancers	K562	blood
11	chr8:11203600-11204000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
12	chr8:11203600-11204000	Enhancers	Gastric	stomach
13	chr8:11203600-11204200	Enhancers	H9 Cell Line	embryonic stem cell
14	chr8:11203600-11204200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
15	chr8:11203600-11204400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell

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