Variant report

Variant	rs12550643
Chromosome Location	chr8:124671136-124671137
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:124661695..124666565-chr8:124667806..124672490,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175946	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10094484	0.85[CHB][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10109736	1.00[CEU][hapmap];0.85[CHB][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10429327	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10956142	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11783892	0.82[EUR][1000 genomes]
rs11784149	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4260879	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4455809	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4871405	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55802621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6470171	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6994286	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7386679	0.85[CHB][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7835500	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv612140	chr8:124604759-124738618	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1032155	chr8:124609702-124739559	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv1841904	chr8:124664130-124676037	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv3324945	chr8:124669371-124673969	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124666200-124674000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr8:124666400-124671200	Enhancers	Fetal Muscle Leg	muscle
3	chr8:124666800-124678600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:124667400-124671400	Enhancers	Colon Smooth Muscle	Colon
5	chr8:124668200-124671200	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr8:124668200-124673200	Weak transcription	Esophagus	oesophagus
7	chr8:124668200-124673600	Weak transcription	Pancreas	Pancrea
8	chr8:124668400-124680800	Weak transcription	Fetal Heart	heart
9	chr8:124669400-124671200	Enhancers	Fetal Stomach	stomach
10	chr8:124669400-124671400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr8:124669400-124671600	Enhancers	Osteobl	bone
12	chr8:124669600-124671200	Enhancers	Fetal Intestine Small	intestine
13	chr8:124669600-124671200	Enhancers	NH-A	brain
14	chr8:124669800-124671200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr8:124669800-124671400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:124669800-124671400	Enhancers	Fetal Kidney	kidney
17	chr8:124669800-124671600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr8:124669800-124671800	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr8:124669800-124673400	Weak transcription	HMEC	breast
20	chr8:124670000-124671200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr8:124670000-124671200	Enhancers	NHLF	lung
22	chr8:124670000-124671400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:124670000-124671400	Enhancers	Brain Hippocampus Middle	brain
24	chr8:124670000-124671400	Enhancers	HSMM	muscle
25	chr8:124670000-124671600	Enhancers	Muscle Satellite Cultured Cells	--
26	chr8:124670000-124671600	Enhancers	NHDF-Ad	bronchial
27	chr8:124670000-124673600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr8:124670000-124673600	Weak transcription	Psoas Muscle	Psoas
29	chr8:124670200-124671200	Enhancers	Brain Angular Gyrus	brain
30	chr8:124670200-124671200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr8:124670200-124671200	Enhancers	Fetal Brain Female	brain
32	chr8:124670200-124671400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr8:124670200-124671400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr8:124670200-124671400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr8:124670400-124672000	Weak transcription	Ovary	ovary
36	chr8:124670400-124673600	Weak transcription	Aorta	Aorta
37	chr8:124670400-124673800	Weak transcription	HSMMtube	muscle
38	chr8:124670400-124678400	Weak transcription	Right Atrium	heart
39	chr8:124670600-124671200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr8:124670600-124671400	Enhancers	HepG2	liver
41	chr8:124670600-124673800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr8:124670600-124674400	Weak transcription	Placenta	Placenta
43	chr8:124670800-124671200	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr8:124671000-124671200	Active TSS	Stomach Smooth Muscle	stomach
45	chr8:124671000-124671400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr8:124671000-124671400	Enhancers	Pancreatic Islets	Pancreatic Islet
47	chr8:124671000-124671800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr8:124671000-124673600	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr8:124671000-124681000	Weak transcription	Brain Substantia Nigra	brain

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