Variant report

Variant	rs417641
Chromosome Location	chr6:4666842-4666843
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs437875	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9328263	0.85[AMR][1000 genomes]
rs9328266	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9378895	0.84[ASN][1000 genomes]
rs9405759	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9504183	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][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	esv3366530	chr6:4471528-4865322	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv528627	chr6:4614058-4731340	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4662000-4667200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:4662000-4667800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr6:4664000-4667000	Enhancers	Osteobl	bone
4	chr6:4664000-4669600	Enhancers	K562	blood
5	chr6:4664800-4667800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr6:4664800-4668600	Weak transcription	HSMM	muscle
7	chr6:4665000-4668600	Weak transcription	NHDF-Ad	bronchial
8	chr6:4665000-4670400	Weak transcription	Fetal Muscle Leg	muscle
9	chr6:4665000-4680400	Weak transcription	Right Atrium	heart
10	chr6:4665200-4668600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:4665200-4670400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr6:4666000-4670400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr6:4666600-4667800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:4666600-4668000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr6:4666600-4668000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:4666600-4672400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr6:4666800-4668600	Weak transcription	HSMMtube	muscle
18	chr6:4666800-4668600	Weak transcription	NH-A	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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