Variant report

Variant	rs73547902
Chromosome Location	chr8:11429886-11429887
allele	A/C
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	EP300	chr8:11427752-11430360	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:11422187..11423813-chr8:11429710..11432078,2	MCF-7	breast:
2	chr8:11429172..11431915-chr8:11433216..11435875,2	MCF-7	breast:

Variant related genes	Relation type
LINC00208	TF binding region
ENSG00000170983	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs17153437	1.00[EUR][1000 genomes]
rs17153457	1.00[EUR][1000 genomes]
rs2254959	1.00[EUR][1000 genomes]
rs2409783	1.00[EUR][1000 genomes]
rs34926793	1.00[EUR][1000 genomes]
rs56185487	1.00[EUR][1000 genomes]
rs56888159	1.00[EUR][1000 genomes]
rs57741049	1.00[EUR][1000 genomes]
rs59820494	1.00[EUR][1000 genomes]
rs60536897	1.00[EUR][1000 genomes]
rs60798606	1.00[EUR][1000 genomes]
rs61104770	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61372296	1.00[EUR][1000 genomes]
rs6994766	1.00[EUR][1000 genomes]
rs73533631	1.00[EUR][1000 genomes]
rs73533635	1.00[EUR][1000 genomes]
rs73533636	1.00[EUR][1000 genomes]
rs73533689	1.00[EUR][1000 genomes]
rs73535718	1.00[EUR][1000 genomes]
rs73535720	1.00[EUR][1000 genomes]
rs73535722	1.00[EUR][1000 genomes]
rs73535733	1.00[EUR][1000 genomes]
rs73535736	1.00[EUR][1000 genomes]
rs73539735	1.00[EUR][1000 genomes]
rs73539737	1.00[EUR][1000 genomes]
rs73539765	1.00[EUR][1000 genomes]
rs73541732	1.00[EUR][1000 genomes]
rs73541774	1.00[EUR][1000 genomes]
rs73543849	1.00[EUR][1000 genomes]
rs73543868	1.00[EUR][1000 genomes]
rs73543893	1.00[EUR][1000 genomes]
rs73547808	1.00[EUR][1000 genomes]
rs73547893	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73547901	1.00[EUR][1000 genomes]
rs7815435	1.00[EUR][1000 genomes]
rs7831922	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	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
5	nsv1017865	chr8:11377795-11579954	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv465467	chr8:11391650-11430485	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv610290	chr8:11391650-11430485	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1026837	chr8:11394466-11464127	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv1018959	chr8:11395232-11455756	Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv890358	chr8:11396856-11448738	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv1033629	chr8:11401789-11466745	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv523827	chr8:11408401-11486220	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv1032195	chr8:11420541-11480692	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv1016749	chr8:11422571-11466745	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11424400-11430800	Enhancers	Fetal Heart	heart
2	chr8:11425200-11430800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:11425200-11440400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:11427400-11431000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr8:11428400-11431000	Enhancers	Left Ventricle	heart
6	chr8:11428400-11431200	Enhancers	Placenta	Placenta
7	chr8:11428600-11430000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr8:11428600-11430400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr8:11428600-11430600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:11428600-11430800	Bivalent Enhancer	NHEK	skin
11	chr8:11428800-11430400	Bivalent Enhancer	Fetal Stomach	stomach
12	chr8:11428800-11431000	Enhancers	Right Ventricle	heart
13	chr8:11429000-11430000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:11429000-11430200	Enhancers	Liver	Liver
15	chr8:11429000-11430400	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr8:11429000-11431000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:11429000-11431000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
18	chr8:11429000-11431000	Bivalent Enhancer	Fetal Muscle Leg	muscle
19	chr8:11429000-11431000	Enhancers	Pancreas	Pancrea
20	chr8:11429000-11431600	Enhancers	Ovary	ovary
21	chr8:11429200-11430000	Enhancers	Duodenum Mucosa	Duodenum
22	chr8:11429200-11430000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
23	chr8:11429200-11430200	Bivalent Enhancer	Rectal Smooth Muscle	rectum
24	chr8:11429200-11430600	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:11429200-11430600	Enhancers	HMEC	breast
26	chr8:11429200-11430600	Bivalent Enhancer	HSMMtube	muscle
27	chr8:11429200-11431000	Enhancers	Gastric	stomach
28	chr8:11429200-11431000	Enhancers	Spleen	Spleen
29	chr8:11429200-11431400	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr8:11429200-11432600	Enhancers	Stomach Mucosa	stomach
31	chr8:11429400-11431000	Enhancers	Esophagus	oesophagus
32	chr8:11429600-11430000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr8:11429600-11430000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
34	chr8:11429600-11430200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
35	chr8:11429600-11431000	Enhancers	Right Atrium	heart
36	chr8:11429600-11431600	Enhancers	HepG2	liver
37	chr8:11429800-11430000	Flanking Active TSS	Hela-S3	cervix
38	chr8:11429800-11430200	Bivalent Enhancer	Colon Smooth Muscle	Colon
39	chr8:11429800-11431000	Enhancers	Psoas Muscle	Psoas

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