Variant report

Variant	rs56119337
Chromosome Location	chr8:11206565-11206566
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	POLR2A	chr8:11206471-11206845	K562	blood:	n/a	n/a
2	GATA1	chr8:11206280-11208770	K562	blood:	n/a	chr8:11207984-11207996 chr8:11208096-11208106
3	FOS	chr8:11206293-11206589	MCF10A-Er-Src	breast:	n/a	chr8:11206428-11206436 chr8:11206426-11206438
4	FOS	chr8:11206300-11206590	MCF10A-Er-Src	breast:	n/a	chr8:11206428-11206436 chr8:11206426-11206438
5	POLR2A	chr8:11205787-11206875	K562	blood:	n/a	n/a
6	ATF3	chr8:11206179-11206608	K562	blood:	n/a	chr8:11206194-11206208
7	ZBTB7A	chr8:11206530-11206746	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:11202674..11205995-chr8:11206285..11210798,7	K562	blood:
2	chr8:11141950..11143471-chr8:11205387..11207796,2	K562	blood:
3	chr8:11202670..11208385-chr8:11211112..11215163,10	K562	blood:
4	chr8:11205483..11207435-chr8:11216914..11218469,2	MCF-7	breast:
5	chr8:11140914..11143471-chr8:11206296..11209213,2	K562	blood:
6	chr8:11205933..11210781-chr8:11211287..11215199,6	K562	blood:

Variant related genes	Relation type
ENSG00000255020	TF binding region
ENSG00000255020	Chromatin interaction
ENSG00000154316	Chromatin interaction
ENSG00000104643	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs2280802	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3808503	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3808508	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3808510	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4141831	1.00[AMR][1000 genomes]
rs59109107	1.00[AMR][1000 genomes]
rs61005672	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61128034	1.00[AMR][1000 genomes]
rs61762307	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61762308	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11202800-11207200	Active TSS	Pancreas	Pancrea
2	chr8:11205600-11206600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
3	chr8:11205600-11208400	Flanking Active TSS	K562	blood
4	chr8:11206000-11206800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr8:11206000-11207000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
6	chr8:11206000-11207000	Bivalent Enhancer	Fetal Brain Male	brain
7	chr8:11206200-11206600	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
8	chr8:11206200-11206600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
9	chr8:11206200-11206600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
10	chr8:11206200-11206600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr8:11206200-11206600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
12	chr8:11206200-11206600	Enhancers	HMEC	breast
13	chr8:11206200-11206800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
14	chr8:11206200-11206800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr8:11206200-11206800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
16	chr8:11206200-11206800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr8:11206200-11206800	Bivalent Enhancer	Brain Hippocampus Middle	brain
18	chr8:11206200-11206800	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
19	chr8:11206200-11225000	Weak transcription	Psoas Muscle	Psoas
20	chr8:11206400-11206600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr8:11206400-11206600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
22	chr8:11206400-11206600	Flanking Active TSS	Placenta Amnion	Placenta Amnion
23	chr8:11206400-11206600	Bivalent Enhancer	A549	lung
24	chr8:11206400-11206600	Bivalent Enhancer	NH-A	brain
25	chr8:11206400-11206800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr8:11206400-11206800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr8:11206400-11206800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr8:11206400-11206800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr8:11206400-11206800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr8:11206400-11226400	Weak transcription	Brain Anterior Caudate	brain

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