Variant report

Variant	rs4267940
Chromosome Location	chr6:11434683-11434684
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:11433709..11436638-chr6:11494109..11496934,3	MCF-7	breast:
2	chr6:11340393..11342489-chr6:11432505..11435028,2	MCF-7	breast:
3	chr6:11171902..11174211-chr6:11431419..11435176,3	MCF-7	breast:
4	chr6:11434133..11437259-chr6:11439593..11442090,3	MCF-7	breast:
5	chr6:11230313..11233018-chr6:11433520..11435084,2	MCF-7	breast:
6	chr6:11413490..11417171-chr6:11433636..11437714,3	MCF-7	breast:
7	chr6:11388708..11391347-chr6:11433045..11435258,2	MCF-7	breast:
8	chr6:11229128..11232149-chr6:11433876..11436826,3	MCF-7	breast:
9	chr6:11423621..11427169-chr6:11433589..11436531,3	MCF-7	breast:
10	chr6:11391901..11394391-chr6:11432829..11435706,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000247925	Chromatin interaction
ENSG00000111859	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs4510670	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4618520	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4713501	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021078	chr6:10819083-11558560	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised 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	47 gene(s)	inside rSNPs	diseases
2	nsv538135	chr6:10819083-11558560	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv432848	chr6:11371614-11560114	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11423600-11435200	Enhancers	HepG2	liver
2	chr6:11423800-11435600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr6:11425600-11436200	Enhancers	Adipose Nuclei	Adipose
4	chr6:11428000-11434800	Weak transcription	Psoas Muscle	Psoas
5	chr6:11428000-11438000	Weak transcription	Esophagus	oesophagus
6	chr6:11429400-11434800	Weak transcription	Right Atrium	heart
7	chr6:11429400-11434800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr6:11430000-11435200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr6:11430000-11435800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr6:11430800-11435000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr6:11431000-11439200	Weak transcription	Primary B cells from cord blood	blood
12	chr6:11431600-11435400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr6:11431800-11435200	Enhancers	Hela-S3	cervix
14	chr6:11431800-11435600	Enhancers	HSMM	muscle
15	chr6:11431800-11435600	Enhancers	NHDF-Ad	bronchial
16	chr6:11432000-11435400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr6:11432000-11436000	Weak transcription	Lung	lung
18	chr6:11432200-11435600	Enhancers	HMEC	breast
19	chr6:11432400-11435400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr6:11432400-11435400	Enhancers	NHEK	skin
21	chr6:11432600-11438000	Weak transcription	Left Ventricle	heart
22	chr6:11432800-11434800	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr6:11432800-11435600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr6:11432800-11435800	Enhancers	Muscle Satellite Cultured Cells	--
25	chr6:11432800-11435800	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr6:11433200-11434800	Weak transcription	Aorta	Aorta
27	chr6:11433400-11435600	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr6:11433400-11435800	Enhancers	Fetal Intestine Small	intestine
29	chr6:11433600-11435400	Enhancers	Fetal Kidney	kidney
30	chr6:11433600-11436400	Enhancers	Duodenum Mucosa	Duodenum
31	chr6:11433800-11435800	Enhancers	NH-A	brain
32	chr6:11433800-11436000	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr6:11433800-11436000	Enhancers	Liver	Liver
34	chr6:11433800-11436200	Enhancers	Fetal Intestine Large	intestine
35	chr6:11434000-11435000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr6:11434000-11435600	Enhancers	Osteobl	bone
37	chr6:11434200-11434800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
38	chr6:11434200-11435000	Weak transcription	Stomach Smooth Muscle	stomach
39	chr6:11434200-11435400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr6:11434200-11435600	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr6:11434200-11435600	Enhancers	HSMMtube	muscle
42	chr6:11434200-11435800	Enhancers	Placenta	Placenta
43	chr6:11434200-11436200	Enhancers	Colonic Mucosa	Colon
44	chr6:11434200-11436200	Flanking Active TSS	A549	lung
45	chr6:11434400-11435200	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr6:11434400-11435400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr6:11434400-11435600	Enhancers	NHLF	lung
48	chr6:11434400-11435800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr6:11434400-11435800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr6:11434400-11435800	Enhancers	Small Intestine	intestine

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