Variant report

Variant	rs2389541
Chromosome Location	chr6:121773999-121774000
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11154026	0.81[EUR][1000 genomes]
rs12204909	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12207042	0.81[EUR][1000 genomes]
rs2038834	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2038835	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62427611	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6930871	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7753979	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv530527	chr6:121298528-121789855	ZNF genes & repeats Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:121764200-121775200	Weak transcription	Psoas Muscle	Psoas
2	chr6:121769200-121774000	Weak transcription	Right Atrium	heart
3	chr6:121769200-121776800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:121769200-121776800	Weak transcription	Esophagus	oesophagus
5	chr6:121769400-121774200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr6:121769400-121776400	Weak transcription	Aorta	Aorta
7	chr6:121769400-121779000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr6:121770200-121774800	Weak transcription	Ovary	ovary
9	chr6:121770800-121774400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:121770800-121778800	Weak transcription	A549	lung
11	chr6:121771000-121776800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:121771200-121774000	Weak transcription	NH-A	brain
13	chr6:121771400-121774600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr6:121771400-121774600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr6:121771400-121774800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr6:121771400-121775200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr6:121771400-121777200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr6:121771600-121774800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr6:121772000-121774000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr6:121772200-121774400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr6:121772200-121777200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr6:121772200-121777200	Weak transcription	Osteobl	bone
23	chr6:121773400-121775000	Enhancers	HUVEC	blood vessel

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