Variant report

Variant	rs73177266
Chromosome Location	chr2:11516870-11516871
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11508308..11513224-chr2:11514143..11518077,7	MCF-7	breast:
2	chr2:11459798..11462037-chr2:11515531..11517179,2	K562	blood:
3	chr2:11514491..11518486-chr2:11518719..11524773,5	K562	blood:
4	chr2:11484360..11486711-chr2:11515483..11517334,3	K562	blood:
5	chr2:11516205..11518065-chr2:11518508..11520842,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134318	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs4497845	1.00[EUR][1000 genomes]
rs6714757	1.00[EUR][1000 genomes]
rs6744190	1.00[EUR][1000 genomes]
rs73177264	1.00[AMR][1000 genomes]
rs73177268	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73177271	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73177275	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7573438	0.85[AFR][1000 genomes]
rs7576515	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7585679	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7594466	1.00[EUR][1000 genomes]
rs7596720	1.00[EUR][1000 genomes]
rs7598990	1.00[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:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11512200-11518400	Enhancers	Fetal Intestine Small	intestine
2	chr2:11513200-11518200	Enhancers	Fetal Lung	lung
3	chr2:11513800-11517600	Enhancers	Placenta	Placenta
4	chr2:11514600-11517200	Enhancers	Spleen	Spleen
5	chr2:11514800-11518000	Weak transcription	Primary B cells from cord blood	blood
6	chr2:11514800-11519200	Enhancers	Fetal Intestine Large	intestine
7	chr2:11515000-11517200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:11515000-11517200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:11515000-11517400	Enhancers	Fetal Muscle Leg	muscle
10	chr2:11515000-11518400	Weak transcription	K562	blood
11	chr2:11515200-11517200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:11515200-11517400	Enhancers	Fetal Muscle Trunk	muscle
13	chr2:11515200-11518200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:11515200-11518200	Weak transcription	Brain Angular Gyrus	brain
15	chr2:11515200-11518400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr2:11515200-11519000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr2:11515400-11518000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:11515400-11518200	Weak transcription	Brain Hippocampus Middle	brain
19	chr2:11515400-11518400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr2:11515400-11518600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr2:11515400-11520000	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr2:11515400-11526000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr2:11515600-11517600	Weak transcription	Primary B cells from peripheral blood	blood
24	chr2:11515600-11518000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:11515600-11518000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:11515600-11518200	Weak transcription	Right Ventricle	heart
27	chr2:11515600-11518200	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr2:11515600-11519200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:11515600-11519400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:11515600-11520000	Weak transcription	Liver	Liver
31	chr2:11515800-11517800	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr2:11515800-11518200	Weak transcription	HSMM	muscle
33	chr2:11515800-11518400	Weak transcription	Osteobl	bone
34	chr2:11515800-11519200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:11515800-11519400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr2:11515800-11519400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:11515800-11519600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr2:11515800-11519600	Weak transcription	NHEK	skin
39	chr2:11515800-11520000	Weak transcription	Fetal Heart	heart
40	chr2:11516000-11517000	Weak transcription	Lung	lung
41	chr2:11516000-11518200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr2:11516000-11518200	Weak transcription	Brain Anterior Caudate	brain
43	chr2:11516000-11518200	Weak transcription	Right Atrium	heart
44	chr2:11516000-11518600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr2:11516000-11526000	Weak transcription	Aorta	Aorta
46	chr2:11516200-11517000	Weak transcription	Psoas Muscle	Psoas
47	chr2:11516200-11517600	Weak transcription	Fetal Stomach	stomach
48	chr2:11516200-11518000	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr2:11516200-11518200	Weak transcription	Adipose Nuclei	Adipose
50	chr2:11516200-11518200	Weak transcription	Colonic Mucosa	Colon

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