Variant report

Variant	rs4140500
Chromosome Location	chr6:56237064-56237065
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:56234551..56238270-chr6:56238885..56242928,5	MCF-7	breast:
2	chr6:56233618..56238024-chr6:56405386..56408602,4	MCF-7	breast:
3	chr6:56235564..56237244-chr6:56239009..56240614,2	K562	blood:
4	chr6:56226560..56229284-chr6:56234863..56237293,2	MCF-7	breast:
5	chr6:56235606..56237147-chr6:56251903..56254247,2	MCF-7	breast:
6	chr6:56236459..56239073-chr6:56241868..56243876,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151914	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs6459157	0.98[ASN][1000 genomes]
rs7764788	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7770594	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9370525	0.93[ASN][1000 genomes]
rs9382624	0.88[ASN][1000 genomes]
rs9464383	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs999231	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking 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 target site	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56229600-56237800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:56231000-56238000	Enhancers	Adipose Nuclei	Adipose
3	chr6:56231000-56238000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr6:56233600-56237200	Weak transcription	Ovary	ovary
5	chr6:56234600-56237400	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr6:56234800-56237400	Enhancers	Stomach Mucosa	stomach
7	chr6:56234800-56237800	Enhancers	Fetal Intestine Large	intestine
8	chr6:56234800-56238000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr6:56234800-56238000	Enhancers	Fetal Muscle Leg	muscle
10	chr6:56234800-56238000	Enhancers	Fetal Stomach	stomach
11	chr6:56235000-56237200	Enhancers	Right Ventricle	heart
12	chr6:56235000-56237400	Enhancers	Fetal Intestine Small	intestine
13	chr6:56235000-56237400	Enhancers	A549	lung
14	chr6:56235000-56238000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr6:56235000-56238000	Enhancers	Fetal Lung	lung
16	chr6:56235200-56237200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr6:56235200-56237600	Enhancers	Duodenum Mucosa	Duodenum
18	chr6:56235200-56238200	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr6:56235400-56237600	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr6:56235400-56237800	Enhancers	Hela-S3	cervix
21	chr6:56235400-56238000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr6:56235400-56238000	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr6:56235600-56237600	Enhancers	HepG2	liver
24	chr6:56235800-56237200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr6:56235800-56237400	Enhancers	NH-A	brain
26	chr6:56235800-56237800	Enhancers	Aorta	Aorta
27	chr6:56235800-56238000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr6:56235800-56238000	Enhancers	Right Atrium	heart
29	chr6:56235800-56238000	Enhancers	HMEC	breast
30	chr6:56236000-56237200	Enhancers	Placenta	Placenta
31	chr6:56236000-56237400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr6:56236000-56238000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr6:56236000-56238000	Enhancers	HUVEC	blood vessel
34	chr6:56236200-56237200	Enhancers	Gastric	stomach
35	chr6:56236200-56237200	Enhancers	Left Ventricle	heart
36	chr6:56236200-56238000	Enhancers	Fetal Thymus	thymus
37	chr6:56236200-56238000	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr6:56236200-56239800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr6:56236400-56237200	Enhancers	Stomach Smooth Muscle	stomach
40	chr6:56236400-56237800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr6:56236400-56237800	Flanking Active TSS	Colon Smooth Muscle	Colon
42	chr6:56236400-56238200	Enhancers	Rectal Smooth Muscle	rectum
43	chr6:56236400-56240000	Weak transcription	HSMMtube	muscle
44	chr6:56236600-56237200	Weak transcription	Brain Angular Gyrus	brain
45	chr6:56236600-56237600	Enhancers	Fetal Kidney	kidney
46	chr6:56236600-56239600	Weak transcription	Osteobl	bone
47	chr6:56236600-56239800	Weak transcription	HSMM	muscle
48	chr6:56236600-56239800	Weak transcription	NHDF-Ad	bronchial
49	chr6:56236600-56242800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr6:56236800-56237200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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