Variant report

Variant	rs12543085
Chromosome Location	chr8:130969228-130969229
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:130967769..130969893-chr8:131027217..131029473,2	K562	blood:

Variant related genes	Relation type
ENSG00000153310	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10956505	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10956506	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12548669	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13271197	0.82[ASN][1000 genomes]
rs16904184	0.83[ASN][1000 genomes]
rs16904185	0.82[ASN][1000 genomes]
rs1812141	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130952800-130981400	Weak transcription	Left Ventricle	heart
2	chr8:130953000-130980000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:130953200-130970400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr8:130953200-130974800	Weak transcription	Fetal Brain Female	brain
5	chr8:130953400-130969400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr8:130953400-130970400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr8:130953400-130982000	Weak transcription	Hela-S3	cervix
8	chr8:130953600-130975400	Weak transcription	HMEC	breast
9	chr8:130953600-130980000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr8:130959200-130979400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr8:130959200-130982200	Weak transcription	Duodenum Mucosa	Duodenum
12	chr8:130959200-130983400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr8:130959600-130969400	Strong transcription	Primary B cells from peripheral blood	blood
14	chr8:130960600-130969400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr8:130961000-130970400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:130961000-130977200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:130961200-130969800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr8:130961400-130970200	Weak transcription	Fetal Thymus	thymus
19	chr8:130965800-130975000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr8:130965800-130975000	Weak transcription	Psoas Muscle	Psoas
21	chr8:130965800-130983800	Weak transcription	HSMMtube	muscle
22	chr8:130966000-130970200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr8:130966000-130970400	Weak transcription	A549	lung
24	chr8:130966000-130970800	Weak transcription	K562	blood
25	chr8:130966000-130971600	Weak transcription	Spleen	Spleen
26	chr8:130966000-130975000	Weak transcription	Gastric	stomach
27	chr8:130966000-130975000	Weak transcription	Pancreas	Pancrea
28	chr8:130966000-130975200	Weak transcription	Lung	lung
29	chr8:130966000-130975200	Weak transcription	Thymus	Thymus
30	chr8:130966000-130975400	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr8:130966000-130975600	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr8:130966000-130976600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr8:130966000-130981600	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr8:130966000-130984400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr8:130966000-130984800	Weak transcription	Esophagus	oesophagus
36	chr8:130966200-130970400	Weak transcription	Adipose Nuclei	Adipose
37	chr8:130966200-130971400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr8:130966200-130981600	Weak transcription	Placenta	Placenta
39	chr8:130966400-130969800	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr8:130966400-130970400	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr8:130966400-130971400	Weak transcription	NHEK	skin
42	chr8:130966400-130974600	Weak transcription	Brain Hippocampus Middle	brain
43	chr8:130966400-130975000	Weak transcription	Brain Angular Gyrus	brain
44	chr8:130966600-130971400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr8:130966600-130974800	Weak transcription	Brain Substantia Nigra	brain
46	chr8:130967200-130981000	Weak transcription	Fetal Intestine Small	intestine
47	chr8:130968000-130972600	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr8:130968200-130969400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr8:130968200-130969600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
50	chr8:130968200-130973600	Enhancers	Primary T helper cells fromperipheralblood	blood

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