Variant report

Variant	rs2123755
Chromosome Location	chr2:30878707-30878708
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:30859134..30861368-chr2:30876511..30879135,2	K562	blood:
2	chr2:30872918..30875377-chr2:30876249..30879009,2	K562	blood:
3	chr2:30855476..30857973-chr2:30878238..30880495,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2602778	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6548026	0.83[ASN][1000 genomes]
rs7583600	0.84[ASN][1000 genomes]
rs895663	0.89[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2123755	LYCAT	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30863600-30882200	Weak transcription	Ovary	ovary
2	chr2:30875200-30879400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:30876200-30879600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:30876400-30879200	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr2:30876400-30879800	Enhancers	Fetal Muscle Leg	muscle
6	chr2:30876400-30879800	Enhancers	NHDF-Ad	bronchial
7	chr2:30876400-30880000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:30876600-30879400	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr2:30876800-30879000	Enhancers	Fetal Muscle Trunk	muscle
10	chr2:30877600-30879000	Enhancers	HSMMtube	muscle
11	chr2:30877800-30879000	Enhancers	Placenta	Placenta
12	chr2:30877800-30879200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:30877800-30879200	Enhancers	Fetal Heart	heart
14	chr2:30877800-30879400	Enhancers	NH-A	brain
15	chr2:30877800-30879800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:30878000-30878800	Enhancers	Muscle Satellite Cultured Cells	--
17	chr2:30878000-30879200	Enhancers	Psoas Muscle	Psoas
18	chr2:30878000-30879400	Enhancers	K562	blood
19	chr2:30878200-30879000	Enhancers	Fetal Stomach	stomach
20	chr2:30878200-30879000	Enhancers	A549	lung
21	chr2:30878200-30879400	Enhancers	Left Ventricle	heart
22	chr2:30878200-30879400	Enhancers	NHLF	lung
23	chr2:30878400-30879400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr2:30878400-30879400	Enhancers	Osteobl	bone
25	chr2:30878400-30881200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:30878600-30878800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:30878600-30879000	Enhancers	HSMM	muscle

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