Variant report

Variant	rs58482024
Chromosome Location	chr11:121527205-121527206
allele	C/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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:121515868..121518433-chr11:121526478..121527992,2	K562	blood:
2	chr11:121525946..121527352-chr11:122073329..122074247,11	MCF-7	breast:
3	chr11:121526136..121527320-chr11:122073409..122074417,3	MCF-7	breast:
4	chr11:121526442..121527320-chr11:122376172..122377075,6	MCF-7	breast:
5	chr11:121526799..121527341-chr11:122073257..122073852,3	K562	blood:
6	chr11:121525458..121528227-chr11:122072456..122075011,2	MCF-7	breast:
7	chr11:121524308..121528407-chr11:121529156..121532838,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000255090	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1111328	1.00[AMR][1000 genomes]
rs57157790	1.00[AMR][1000 genomes]
rs58028774	1.00[AMR][1000 genomes]
rs60352508	1.00[AMR][1000 genomes]
rs73597357	1.00[AMR][1000 genomes]
rs73597361	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv975233	chr11:121359656-121574786	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription 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	6 gene(s)	inside rSNPs	diseases
2	esv34768	chr11:121452651-121534938	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv818867	chr11:121472993-121534938	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2757477	chr11:121473598-121540642	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv2759866	chr11:121473598-121540642	Genic enhancers Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:121525400-121527600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:121525600-121527400	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr11:121525600-121527600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr11:121525800-121527400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr11:121525800-121527600	Flanking Active TSS	Fetal Muscle Trunk	muscle
6	chr11:121525800-121543400	Weak transcription	Gastric	stomach
7	chr11:121526000-121527400	Active TSS	Hela-S3	cervix
8	chr11:121526200-121527600	Enhancers	Lung	lung
9	chr11:121526400-121527400	Weak transcription	Small Intestine	intestine
10	chr11:121526400-121527800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr11:121526800-121527400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:121526800-121527400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr11:121526800-121527400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr11:121526800-121527400	Enhancers	NHEK	skin
15	chr11:121526800-121527600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr11:121526800-121527600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr11:121526800-121527600	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr11:121526800-121527600	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr11:121526800-121527800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:121526800-121527800	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr11:121526800-121527800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr11:121526800-121528400	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr11:121527000-121527400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr11:121527000-121527400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr11:121527000-121527400	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr11:121527000-121527400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr11:121527000-121527400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr11:121527000-121527400	Flanking Active TSS	Liver	Liver
29	chr11:121527000-121527400	Flanking Active TSS	Brain Angular Gyrus	brain
30	chr11:121527000-121527400	Flanking Active TSS	Brain Anterior Caudate	brain
31	chr11:121527000-121527400	Flanking Active TSS	Brain Substantia Nigra	brain
32	chr11:121527000-121527400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr11:121527000-121527400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
34	chr11:121527000-121527400	Flanking Active TSS	Fetal Intestine Small	intestine
35	chr11:121527000-121527400	Flanking Active TSS	Fetal Kidney	kidney
36	chr11:121527000-121527400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
37	chr11:121527000-121527400	Flanking Active TSS	Rectal Smooth Muscle	rectum
38	chr11:121527000-121527400	Enhancers	Right Ventricle	heart
39	chr11:121527000-121527400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr11:121527000-121527400	Flanking Active TSS	NH-A	brain
41	chr11:121527000-121527600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr11:121527000-121527600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr11:121527000-121527600	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr11:121527000-121527600	Flanking Active TSS	Brain Cingulate Gyrus	brain
45	chr11:121527000-121527600	Flanking Active TSS	Brain Hippocampus Middle	brain
46	chr11:121527000-121527600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
47	chr11:121527000-121527600	Enhancers	Fetal Thymus	thymus
48	chr11:121527000-121527600	Enhancers	Left Ventricle	heart
49	chr11:121527000-121527600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr11:121527000-121527600	Flanking Active TSS	HSMM	muscle

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