Variant report

Variant	rs12545119
Chromosome Location	chr8:19264789-19264790
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:19263735..19266088-chr8:19414623..19416973,2	K562	blood:
2	chr8:19264741..19268726-chr8:19614195..19616222,3	MCF-7	breast:
3	chr8:19263579..19266063-chr8:19277722..19281368,3	MCF-7	breast:
4	chr8:19260819..19264347-chr8:19264477..19266949,3	MCF-7	breast:
5	chr8:19245853..19248424-chr8:19264040..19266305,2	MCF-7	breast:
6	chr8:19257916..19263077-chr8:19263478..19266650,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147408	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10097813	1.00[JPT][hapmap]
rs11776219	0.94[ASN][1000 genomes]
rs12546845	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35971700	0.94[ASN][1000 genomes]
rs3802330	1.00[JPT][hapmap]
rs6980861	1.00[JPT][hapmap]
rs6990109	0.94[ASN][1000 genomes]
rs7001231	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026466	chr8:18433493-19271274	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv539520	chr8:18433493-19271274	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1015395	chr8:18489538-19370258	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS 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
4	nsv429907	chr8:18578720-19398220	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv949745	chr8:18826830-19363963	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1016482	chr8:18834807-19339487	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv890614	chr8:18838764-19274793	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv533109	chr8:18845845-19456780	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv1016993	chr8:18855623-19311731	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
10	nsv949636	chr8:18957705-19664732	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
11	nsv1033229	chr8:19081684-19271274	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
12	nsv948861	chr8:19199688-19609029	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
13	nsv949304	chr8:19199688-19625912	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
14	nsv890622	chr8:19224772-19275354	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
15	nsv610751	chr8:19226335-19284889	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
16	esv3693374	chr8:19241970-19359184	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
17	esv34007	chr8:19252602-19482098	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
18	nsv610752	chr8:19254816-19311496	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19214400-19266200	Weak transcription	Aorta	Aorta
2	chr8:19233400-19266200	Weak transcription	Brain Anterior Caudate	brain
3	chr8:19241200-19265800	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr8:19244200-19265800	Weak transcription	Brain Angular Gyrus	brain
5	chr8:19244400-19266200	Strong transcription	Placenta	Placenta
6	chr8:19246200-19265800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr8:19247600-19266000	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr8:19252400-19266200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:19252400-19266200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr8:19252800-19266200	Weak transcription	Fetal Kidney	kidney
11	chr8:19253000-19265800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr8:19253400-19266000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr8:19253400-19266200	Weak transcription	Fetal Intestine Large	intestine
14	chr8:19253600-19264800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:19253600-19265600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr8:19253600-19266200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr8:19253600-19266200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:19253800-19266200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr8:19254000-19264800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr8:19254000-19266200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr8:19254000-19266200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr8:19254000-19275000	Weak transcription	Gastric	stomach
23	chr8:19254200-19266200	Weak transcription	HepG2	liver
24	chr8:19254800-19265800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr8:19255200-19266200	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr8:19255400-19266000	Weak transcription	Osteobl	bone
27	chr8:19255600-19266200	Weak transcription	Duodenum Mucosa	Duodenum
28	chr8:19256000-19266200	Weak transcription	NHDF-Ad	bronchial
29	chr8:19256600-19265600	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr8:19256800-19266000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr8:19257200-19265200	Strong transcription	A549	lung
32	chr8:19257600-19266200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr8:19257600-19266200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr8:19257800-19266200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr8:19258000-19265600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr8:19258000-19265600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr8:19258000-19265800	Weak transcription	Fetal Muscle Leg	muscle
38	chr8:19258000-19266200	Weak transcription	Thymus	Thymus
39	chr8:19258000-19266200	Weak transcription	NHLF	lung
40	chr8:19258800-19266200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr8:19258800-19266200	Weak transcription	Fetal Intestine Small	intestine
42	chr8:19259400-19266200	Weak transcription	Liver	Liver
43	chr8:19260000-19266200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr8:19261400-19266000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr8:19261600-19266200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr8:19261800-19265800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr8:19261800-19266000	Weak transcription	Brain Hippocampus Middle	brain
48	chr8:19261800-19266200	Weak transcription	Brain Substantia Nigra	brain
49	chr8:19261800-19279600	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr8:19262000-19265000	Weak transcription	Brain Inferior Temporal Lobe	brain

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