Variant report

Variant	rs4513954
Chromosome Location	chr8:124604497-124604498
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124596927..124598832-chr8:124603529..124605286,2	MCF-7	breast:
2	chr8:124603169..124606438-chr8:124607098..124610050,3	MCF-7	breast:
3	chr8:124600695..124604171-chr8:124604350..124608237,3	MCF-7	breast:
4	chr8:124597730..124602025-chr8:124602614..124604798,3	K562	blood:

Variant related genes	Relation type
ENSG00000251840	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11996113	1.00[EUR][1000 genomes]
rs11997211	1.00[EUR][1000 genomes]
rs16898743	1.00[EUR][1000 genomes]
rs16898756	1.00[EUR][1000 genomes]
rs16898765	1.00[EUR][1000 genomes]
rs16898849	1.00[EUR][1000 genomes]
rs1975114	1.00[EUR][1000 genomes]
rs34792899	1.00[EUR][1000 genomes]
rs58870794	1.00[EUR][1000 genomes]
rs6981655	1.00[EUR][1000 genomes]
rs6986577	1.00[EUR][1000 genomes]
rs6986749	1.00[EUR][1000 genomes]
rs6986773	1.00[EUR][1000 genomes]
rs7004159	0.89[AFR][1000 genomes]
rs7004529	1.00[EUR][1000 genomes]
rs7004798	1.00[EUR][1000 genomes]
rs7008452	1.00[EUR][1000 genomes]
rs73324246	1.00[EUR][1000 genomes]
rs73330061	1.00[EUR][1000 genomes]
rs7813635	1.00[EUR][1000 genomes]
rs7819852	1.00[EUR][1000 genomes]
rs7820119	1.00[EUR][1000 genomes]
rs7833145	1.00[EUR][1000 genomes]
rs7833197	1.00[EUR][1000 genomes]
rs7840250	1.00[EUR][1000 genomes]
rs9694473	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831450	chr8:124471741-124661359	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124599400-124604600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:124599400-124604800	Enhancers	Stomach Smooth Muscle	stomach
3	chr8:124599400-124605000	Enhancers	Colon Smooth Muscle	Colon
4	chr8:124599600-124606200	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr8:124600400-124604600	Weak transcription	Adipose Nuclei	Adipose
6	chr8:124601200-124605000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr8:124601400-124605400	Enhancers	NHDF-Ad	bronchial
8	chr8:124601400-124607200	Enhancers	Osteobl	bone
9	chr8:124601800-124604600	Weak transcription	Pancreas	Pancrea
10	chr8:124602000-124605400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr8:124602400-124605400	Weak transcription	Right Ventricle	heart
12	chr8:124602400-124609000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr8:124602800-124604600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr8:124603200-124604800	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr8:124603400-124604800	Enhancers	Aorta	Aorta
16	chr8:124603400-124604800	Enhancers	Fetal Lung	lung
17	chr8:124603400-124605200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr8:124603400-124605600	Enhancers	NHLF	lung
19	chr8:124603800-124604800	Enhancers	Ovary	ovary
20	chr8:124604000-124605000	Enhancers	Right Atrium	heart
21	chr8:124604000-124605200	Enhancers	NHEK	skin
22	chr8:124604200-124604800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr8:124604200-124605400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr8:124604200-124605600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr8:124604200-124606400	Enhancers	K562	blood
26	chr8:124604200-124606800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr8:124604400-124604600	Enhancers	Left Ventricle	heart
28	chr8:124604400-124604800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr8:124604400-124604800	Flanking Active TSS	HMEC	breast
30	chr8:124604400-124605000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr8:124604400-124605000	Enhancers	Psoas Muscle	Psoas
32	chr8:124604400-124605000	Enhancers	HSMM	muscle
33	chr8:124604400-124605200	Enhancers	Muscle Satellite Cultured Cells	--
34	chr8:124604400-124605800	Enhancers	Fetal Stomach	stomach
35	chr8:124604400-124607200	Enhancers	HSMMtube	muscle
36	chr8:124604400-124609200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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