Variant report

Variant	rs73738316
Chromosome Location	chr6:45940339-45940340
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1338468	1.00[EUR][1000 genomes]
rs2022420	1.00[EUR][1000 genomes]
rs58075690	1.00[EUR][1000 genomes]
rs59418367	1.00[EUR][1000 genomes]
rs60072106	1.00[EUR][1000 genomes]
rs73454889	1.00[EUR][1000 genomes]
rs73735485	1.00[EUR][1000 genomes]
rs73735486	1.00[EUR][1000 genomes]
rs73735487	1.00[EUR][1000 genomes]
rs73735489	1.00[EUR][1000 genomes]
rs73738315	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7760252	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532024	chr6:45475088-45982640	Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv428482	chr6:45926644-46050182	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv885867	chr6:45936223-45982976	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr6:45933600-45941400	Enhancers	Skeletal Muscle Male	skeletal muscle
2	chr6:45936000-45941200	Enhancers	Fetal Heart	heart
3	chr6:45936800-45942000	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr6:45937600-45941600	Enhancers	Right Ventricle	heart
5	chr6:45938600-45940400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:45938600-45940400	Weak transcription	Fetal Muscle Leg	muscle
7	chr6:45938600-45942800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr6:45938600-45943400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr6:45938600-45949800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr6:45938600-45953200	Weak transcription	Lung	lung
11	chr6:45938800-45942800	Weak transcription	Fetal Intestine Small	intestine
12	chr6:45939400-45941000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:45940000-45940600	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr6:45940200-45940600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr6:45940200-45940600	Weak transcription	Psoas Muscle	Psoas
16	chr6:45940200-45941000	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr6:45940200-45941000	Enhancers	Right Atrium	heart
18	chr6:45940200-45942200	Enhancers	Left Ventricle	heart

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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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