Variant report

Variant	rs62134775
Chromosome Location	chr2:55123717-55123718
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:55123462..55125095-chr2:55125621..55127233,2	MCF-7	breast:
2	chr2:55122046..55124252-chr2:55124464..55126303,3	MCF-7	breast:
3	chr2:55122602..55124737-chr2:55161405..55163876,2	K562	blood:

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

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

rs_ID	r²[population]
rs10189076	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10189184	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10191555	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1438817	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs891777	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs891778	0.94[AMR][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	nsv1005449	chr2:54938633-55129503	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv834069	chr2:55096597-55251680	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55087800-55126000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr2:55095200-55148200	Weak transcription	Primary B cells from peripheral blood	blood
3	chr2:55106600-55124000	Weak transcription	Spleen	Spleen
4	chr2:55109200-55126800	Weak transcription	Brain Angular Gyrus	brain
5	chr2:55109200-55127600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr2:55119000-55124600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr2:55119000-55124600	Weak transcription	Fetal Brain Female	brain
8	chr2:55119400-55124600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr2:55120400-55130200	Weak transcription	Hela-S3	cervix
10	chr2:55122000-55130200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:55122800-55125200	Weak transcription	Primary B cells from cord blood	blood
12	chr2:55123000-55124000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:55123000-55125000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:55123000-55126800	Weak transcription	HSMMtube	muscle
15	chr2:55123000-55127400	Weak transcription	Brain Anterior Caudate	brain
16	chr2:55123000-55127400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr2:55123200-55125400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:55123200-55126800	Weak transcription	Brain Substantia Nigra	brain
19	chr2:55123200-55127000	Enhancers	Thymus	Thymus
20	chr2:55123200-55128200	Weak transcription	HepG2	liver
21	chr2:55123400-55124600	Weak transcription	NHDF-Ad	bronchial
22	chr2:55123400-55124800	Weak transcription	Small Intestine	intestine
23	chr2:55123400-55125000	Weak transcription	Duodenum Mucosa	Duodenum
24	chr2:55123400-55125000	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr2:55123400-55127600	Enhancers	Fetal Thymus	thymus
26	chr2:55123400-55130800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:55123600-55124000	Enhancers	Brain Hippocampus Middle	brain
28	chr2:55123600-55124600	Enhancers	Fetal Muscle Leg	muscle
29	chr2:55123600-55126600	Weak transcription	Rectal Mucosa Donor 31	rectum

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