Variant report

Variant	rs12547810
Chromosome Location	chr8:131009052-131009053
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:130999286..131001755-chr8:131008650..131010695,2	K562	blood:
2	chr8:131008248..131015000-chr8:131026148..131029127,9	K562	blood:
3	chr8:131006962..131012860-chr8:131027231..131029958,8	MCF-7	breast:
4	chr8:131007021..131009238-chr8:131011453..131013766,3	MCF-7	breast:
5	chr8:131007627..131010623-chr8:131045952..131048257,2	MCF-7	breast:
6	chr8:130994958..130999216-chr8:131005349..131009996,7	MCF-7	breast:
7	chr8:130987235..130990502-chr8:131006341..131009239,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153310	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10110808	0.95[ASN][1000 genomes]
rs12541347	0.93[ASN][1000 genomes]
rs12548639	0.93[ASN][1000 genomes]
rs12548670	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12550248	0.85[ASN][1000 genomes]
rs13273700	0.82[ASN][1000 genomes]
rs1563167	0.94[ASN][1000 genomes]
rs1971905	0.95[ASN][1000 genomes]
rs1976582	0.92[ASN][1000 genomes]
rs35830950	0.83[ASN][1000 genomes]
rs4329313	0.95[ASN][1000 genomes]
rs4733757	0.92[ASN][1000 genomes]
rs6470789	0.92[ASN][1000 genomes]
rs7003672	0.88[ASN][1000 genomes]
rs7016267	0.94[ASN][1000 genomes]
rs7016345	0.93[ASN][1000 genomes]
rs7357390	0.82[ASN][1000 genomes]
rs7388128	0.94[ASN][1000 genomes]
rs749029	0.84[ASN][1000 genomes]
rs874579	0.84[ASN][1000 genomes]
rs882446	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018045	chr8:130863644-131122644	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv612231	chr8:130868212-131132592	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv524349	chr8:130868363-131132592	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv1021229	chr8:130887132-131057897	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1017292	chr8:130887132-131107258	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv465808	chr8:130963259-131118658	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv612232	chr8:130963259-131118658	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv465809	chr8:131005345-131031827	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
9	nsv612233	chr8:131005345-131031827	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130996600-131009600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr8:130996600-131017400	Weak transcription	Fetal Intestine Small	intestine
3	chr8:130996800-131011600	Weak transcription	Left Ventricle	heart
4	chr8:130997000-131009800	Weak transcription	Fetal Heart	heart
5	chr8:130998400-131017400	Weak transcription	Fetal Intestine Large	intestine
6	chr8:130998600-131009600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:131001600-131009800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr8:131001800-131009400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr8:131001800-131012000	Weak transcription	GM12878-XiMat	blood
10	chr8:131003600-131012000	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr8:131004200-131009200	Enhancers	Spleen	Spleen
12	chr8:131004200-131009400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr8:131004600-131013400	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr8:131005000-131009400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr8:131005000-131010000	Enhancers	Lung	lung
16	chr8:131005400-131009600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr8:131005400-131009600	Enhancers	Primary T cells fromperipheralblood	blood
18	chr8:131005800-131010800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr8:131005800-131013600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr8:131006000-131009200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr8:131006000-131011400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr8:131006000-131016200	Genic enhancers	Primary B cells from peripheral blood	blood
23	chr8:131006200-131011600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr8:131006200-131012000	Enhancers	Brain Hippocampus Middle	brain
25	chr8:131006200-131012400	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr8:131006200-131012600	Enhancers	Adipose Nuclei	Adipose
27	chr8:131006200-131012600	Enhancers	Brain Substantia Nigra	brain
28	chr8:131006200-131013800	Enhancers	HMEC	breast
29	chr8:131006400-131011600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr8:131006400-131012200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr8:131006400-131013000	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr8:131006400-131013600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr8:131006600-131010200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
34	chr8:131006600-131010800	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr8:131006600-131012200	Enhancers	Placenta	Placenta
36	chr8:131006600-131012400	Enhancers	Brain Angular Gyrus	brain
37	chr8:131006600-131012600	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr8:131006800-131009200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr8:131006800-131010000	Enhancers	Small Intestine	intestine
40	chr8:131006800-131010000	Enhancers	HepG2	liver
41	chr8:131006800-131010200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr8:131006800-131010800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr8:131006800-131012800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr8:131006800-131012800	Enhancers	Placenta Amnion	Placenta Amnion
45	chr8:131007000-131011400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr8:131007000-131012400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr8:131007000-131012800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr8:131007000-131012800	Enhancers	Hela-S3	cervix
49	chr8:131007200-131009800	Enhancers	HSMM	muscle
50	chr8:131007200-131010200	Enhancers	Muscle Satellite Cultured Cells	--

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