Variant report

Variant	rs71439058
Chromosome Location	chr2:11515146-11515147
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11511350..11513048-chr2:11514615..11516700,2	K562	blood:
2	chr2:11508308..11513224-chr2:11514143..11518077,7	MCF-7	breast:
3	chr2:11503472..11505641-chr2:11513994..11516819,2	K562	blood:
4	chr2:11503850..11507049-chr2:11513264..11516627,3	MCF-7	breast:
5	chr2:11514491..11518486-chr2:11518719..11524773,5	K562	blood:

Variant related genes	Relation type
ENSG00000230952	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs13015560	0.84[EUR][1000 genomes]
rs13017021	0.84[EUR][1000 genomes]
rs34887515	0.84[EUR][1000 genomes]
rs35231136	0.84[EUR][1000 genomes]
rs35665018	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11507400-11516200	Enhancers	Stomach Mucosa	stomach
2	chr2:11512200-11518400	Enhancers	Fetal Intestine Small	intestine
3	chr2:11512800-11516200	Enhancers	Fetal Stomach	stomach
4	chr2:11513000-11515600	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr2:11513200-11515600	Enhancers	Primary B cells from peripheral blood	blood
6	chr2:11513200-11518200	Enhancers	Fetal Lung	lung
7	chr2:11513800-11515600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:11513800-11516000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr2:11513800-11516600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:11513800-11517600	Enhancers	Placenta	Placenta
11	chr2:11514200-11515600	Enhancers	Liver	Liver
12	chr2:11514400-11515200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr2:11514400-11515200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:11514400-11515200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr2:11514400-11515200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:11514400-11515200	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr2:11514400-11515200	Flanking Active TSS	Brain Anterior Caudate	brain
18	chr2:11514400-11515200	Flanking Active TSS	Brain Substantia Nigra	brain
19	chr2:11514400-11515200	Flanking Active TSS	Colonic Mucosa	Colon
20	chr2:11514400-11515200	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr2:11514400-11515200	Flanking Active TSS	A549	lung
22	chr2:11514400-11515200	Flanking Active TSS	GM12878-XiMat	blood
23	chr2:11514400-11515400	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr2:11514400-11515400	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr2:11514400-11515400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
26	chr2:11514400-11515400	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr2:11514400-11515400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:11514400-11515400	Enhancers	Fetal Brain Male	brain
29	chr2:11514400-11515400	Enhancers	Placenta Amnion	Placenta Amnion
30	chr2:11514400-11515400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
31	chr2:11514400-11515400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr2:11514400-11515400	Flanking Active TSS	HepG2	liver
33	chr2:11514400-11515400	Enhancers	HUVEC	blood vessel
34	chr2:11514400-11515400	Flanking Active TSS	NHEK	skin
35	chr2:11514400-11515400	Flanking Active TSS	Osteobl	bone
36	chr2:11514400-11515600	Flanking Active TSS	Stomach Smooth Muscle	stomach
37	chr2:11514400-11515600	Flanking Active TSS	Hela-S3	cervix
38	chr2:11514400-11515800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr2:11514400-11515800	Enhancers	Fetal Heart	heart
40	chr2:11514400-11516000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr2:11514400-11516200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr2:11514400-11516200	Enhancers	Psoas Muscle	Psoas
43	chr2:11514600-11515200	Enhancers	H1 Cell Line	embryonic stem cell
44	chr2:11514600-11515200	Enhancers	H9 Cell Line	embryonic stem cell
45	chr2:11514600-11515200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr2:11514600-11515200	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr2:11514600-11515200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:11514600-11515200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr2:11514600-11515200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr2:11514600-11515200	Flanking Active TSS	Brain Cingulate Gyrus	brain

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