Variant report

Variant	rs7987410
Chromosome Location	chr13:47787020-47787021
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:6)

rs_ID	r²[population]
rs11841008	0.88[EUR][1000 genomes]
rs17376673	0.95[EUR][1000 genomes]
rs57134877	1.00[EUR][1000 genomes]
rs7335241	0.88[EUR][1000 genomes]
rs7985402	0.95[EUR][1000 genomes]
rs7987233	0.86[AMR][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	esv2763019	chr13:47348229-48123447	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	esv3394678	chr13:47678184-48039379	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv832599	chr13:47703075-47873855	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:47784800-47787200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr13:47784800-47790200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr13:47785000-47787800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr13:47785800-47788800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr13:47785800-47788800	Weak transcription	HMEC	breast
6	chr13:47785800-47790000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr13:47786000-47789400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr13:47786000-47789600	Weak transcription	NH-A	brain
9	chr13:47786000-47789600	Weak transcription	NHEK	skin
10	chr13:47786400-47788200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr13:47786600-47787400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr13:47786600-47789600	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr13:47786600-47790000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr13:47786800-47787200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr13:47786800-47787800	Enhancers	HSMMtube	muscle
16	chr13:47786800-47790000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr13:47787000-47788000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr13:47787000-47789000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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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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