Variant report

Variant	rs3133812
Chromosome Location	chr8:104419064-104419065
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	chr8:104418483-104419137	GM12878	blood:	n/a	n/a
2	NFIC	chr8:104418430-104419102	GM12878	blood:	n/a	n/a
3	MXI1	chr8:104418394-104419096	GM12878	blood:	n/a	n/a
4	BCLAF1	chr8:104418571-104419110	GM12878	blood:	n/a	chr8:104418644-104418653

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:104412779..104415482-chr8:104417281..104419363,2	K562	blood:

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

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12549394	1.00[EUR][1000 genomes]
rs12682141	1.00[EUR][1000 genomes]
rs17228576	1.00[ASN][1000 genomes]
rs17228841	1.00[ASN][1000 genomes]
rs2687356	1.00[ASN][1000 genomes]
rs2917546	1.00[ASN][1000 genomes]
rs2917548	1.00[ASN][1000 genomes]
rs3098216	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3098226	1.00[ASN][1000 genomes]
rs3098234	1.00[ASN][1000 genomes]
rs3098235	1.00[ASN][1000 genomes]
rs3098238	1.00[ASN][1000 genomes]
rs3098239	1.00[ASN][1000 genomes]
rs3134252	1.00[ASN][1000 genomes]
rs3134257	1.00[ASN][1000 genomes]
rs3134260	1.00[ASN][1000 genomes]
rs3134263	1.00[ASN][1000 genomes]
rs3134268	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3134269	1.00[ASN][1000 genomes]
rs3134284	1.00[ASN][1000 genomes]
rs3134294	1.00[ASN][1000 genomes]
rs73286089	1.00[ASN][1000 genomes]
rs73286092	1.00[ASN][1000 genomes]
rs73286095	1.00[ASN][1000 genomes]
rs750509	1.00[ASN][1000 genomes]
rs751725	1.00[ASN][1000 genomes]
rs827594	1.00[ASN][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	chr8:104385600-104423600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr8:104385600-104424600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr8:104386000-104425600	Weak transcription	HSMMtube	muscle
4	chr8:104393200-104423600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr8:104394800-104421800	Weak transcription	Small Intestine	intestine
6	chr8:104400000-104426000	Weak transcription	Stomach Mucosa	stomach
7	chr8:104400200-104425600	Weak transcription	Colonic Mucosa	Colon
8	chr8:104400600-104422400	Weak transcription	Lung	lung
9	chr8:104401600-104426600	Weak transcription	Esophagus	oesophagus
10	chr8:104404200-104425400	Weak transcription	Brain Angular Gyrus	brain
11	chr8:104404200-104426600	Weak transcription	Pancreas	Pancrea
12	chr8:104404400-104425000	Weak transcription	Fetal Brain Female	brain
13	chr8:104404600-104423800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr8:104405800-104426600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:104405800-104426600	Weak transcription	Gastric	stomach
16	chr8:104406200-104420000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr8:104406800-104424800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:104407400-104425200	Weak transcription	Fetal Brain Male	brain
19	chr8:104409000-104423000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr8:104409400-104419400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:104409400-104425200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr8:104409600-104419600	Strong transcription	Hela-S3	cervix
23	chr8:104409800-104419200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr8:104410000-104423600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr8:104410200-104419600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:104410400-104419600	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr8:104410400-104419600	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr8:104410400-104421800	Weak transcription	Spleen	Spleen
29	chr8:104410400-104423600	Weak transcription	Fetal Intestine Small	intestine
30	chr8:104410400-104425400	Weak transcription	Right Ventricle	heart
31	chr8:104410600-104419800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr8:104410600-104425400	Weak transcription	Right Atrium	heart
33	chr8:104410800-104419400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr8:104410800-104419600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr8:104410800-104424600	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr8:104411000-104425200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr8:104411600-104425000	Weak transcription	NHLF	lung
38	chr8:104411800-104420000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr8:104412200-104425200	Weak transcription	Brain Germinal Matrix	brain
40	chr8:104412400-104420000	Strong transcription	K562	blood
41	chr8:104413200-104425600	Weak transcription	Stomach Smooth Muscle	stomach
42	chr8:104413800-104425400	Weak transcription	Rectal Smooth Muscle	rectum
43	chr8:104413800-104425400	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr8:104413800-104425800	Weak transcription	Fetal Kidney	kidney
45	chr8:104414000-104423600	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr8:104414000-104424800	Weak transcription	NHEK	skin
47	chr8:104414200-104421800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr8:104414400-104423800	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr8:104414600-104423800	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr8:104415600-104420000	Strong transcription	Muscle Satellite Cultured Cells	--

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