Variant report

Variant	rs17228841
Chromosome Location	chr8:104416252-104416253
allele	C/T
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	RUNX3	chr8:104416006-104416310	GM12878	blood:	n/a	n/a
2	STAT3	chr8:104416166-104416408	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr8:104416079-104416375	MCF10A-Er-Src	breast:	n/a	chr8:104416199-104416206 chr8:104416199-104416207 chr8:104416199-104416207
4	BATF	chr8:104416061-104416334	GM12878	blood:	n/a	chr8:104416195-104416206 chr8:104416196-104416206
5	FOS	chr8:104416026-104416388	MCF10A-Er-Src	breast:	n/a	chr8:104416199-104416206 chr8:104416199-104416207 chr8:104416199-104416207
6	FOS	chr8:104416065-104416411	MCF10A-Er-Src	breast:	n/a	chr8:104416199-104416206 chr8:104416199-104416207 chr8:104416199-104416207
7	BATF	chr8:104416106-104416340	GM12878	blood:	n/a	chr8:104416195-104416206 chr8:104416196-104416206
8	FOS	chr8:104416041-104416388	MCF10A-Er-Src	breast:	n/a	chr8:104416199-104416206 chr8:104416199-104416207 chr8:104416199-104416207

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:104409502..104412263-chr8:104415584..104417349,2	K562	blood:
2	chr8:104412488..104416313-chr8:104425793..104429036,7	MCF-7	breast:

Variant related genes	Relation type
SLC25A32	TF binding region
ENSG00000164934	Chromatin interaction
ENSG00000164933	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs17228576	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17803441	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2687356	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2917546	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2917547	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2917548	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3098216	1.00[ASN][1000 genomes]
rs3098226	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3098234	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3098235	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3098238	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3098239	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3133812	1.00[ASN][1000 genomes]
rs3134252	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3134257	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3134260	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3134263	1.00[ASN][1000 genomes]
rs3134268	1.00[ASN][1000 genomes]
rs3134269	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3134284	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3134294	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73286089	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73286092	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73286095	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs750509	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs751725	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs827589	0.83[AMR][1000 genomes]
rs827591	0.83[AMR][1000 genomes]
rs827594	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs827600	0.88[AMR][1000 genomes];0.86[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	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv1020476	chr8:104312212-104924482	Genic enhancers Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv539704	chr8:104312212-104924482	Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv1016395	chr8:104327541-104473005	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1023048	chr8:104355188-104872701	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv539705	chr8:104355188-104872701	ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv1021345	chr8:104361854-104879684	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv1032085	chr8:104362187-104878345	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv1033477	chr8:104369940-104439632	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
10	nsv539706	chr8:104369940-104439632	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
11	nsv1034183	chr8:104369940-104814008	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
12	nsv539707	chr8:104369940-104814008	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
13	nsv611832	chr8:104400808-104481735	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
14	esv2753239	chr8:104404824-104545824	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104384600-104418600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:104385600-104423600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr8:104385600-104424600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr8:104386000-104418600	Weak transcription	Aorta	Aorta
5	chr8:104386000-104425600	Weak transcription	HSMMtube	muscle
6	chr8:104393200-104423600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr8:104394800-104421800	Weak transcription	Small Intestine	intestine
8	chr8:104400000-104426000	Weak transcription	Stomach Mucosa	stomach
9	chr8:104400200-104425600	Weak transcription	Colonic Mucosa	Colon
10	chr8:104400600-104422400	Weak transcription	Lung	lung
11	chr8:104400800-104418600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr8:104401600-104426600	Weak transcription	Esophagus	oesophagus
13	chr8:104404200-104425400	Weak transcription	Brain Angular Gyrus	brain
14	chr8:104404200-104426600	Weak transcription	Pancreas	Pancrea
15	chr8:104404400-104425000	Weak transcription	Fetal Brain Female	brain
16	chr8:104404600-104423800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr8:104405600-104417200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr8:104405800-104426600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:104405800-104426600	Weak transcription	Gastric	stomach
20	chr8:104406200-104420000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr8:104406800-104424800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:104407400-104425200	Weak transcription	Fetal Brain Male	brain
23	chr8:104407600-104417600	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr8:104407800-104417800	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr8:104408200-104418600	Weak transcription	Brain Substantia Nigra	brain
26	chr8:104408600-104418000	Strong transcription	Primary B cells from peripheral blood	blood
27	chr8:104409000-104418000	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr8:104409000-104423000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr8:104409200-104417800	Strong transcription	Primary hematopoietic stem cells	blood
30	chr8:104409200-104418600	Weak transcription	Brain Cingulate Gyrus	brain
31	chr8:104409200-104418600	Strong transcription	Dnd41	blood
32	chr8:104409200-104418800	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr8:104409400-104419000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr8:104409400-104419400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr8:104409400-104425200	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr8:104409600-104419000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr8:104409600-104419000	Strong transcription	Osteobl	bone
38	chr8:104409600-104419600	Strong transcription	Hela-S3	cervix
39	chr8:104409800-104416600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr8:104409800-104417600	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr8:104409800-104418200	Strong transcription	Liver	Liver
42	chr8:104409800-104419200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr8:104410000-104423600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr8:104410200-104417400	Strong transcription	HSMM	muscle
45	chr8:104410200-104417800	Strong transcription	NH-A	brain
46	chr8:104410200-104419600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr8:104410400-104417000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr8:104410400-104418600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr8:104410400-104419600	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr8:104410400-104419600	Strong transcription	HUES64 Cell Line	embryonic stem cell

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