Variant report

Variant	rs61224554
Chromosome Location	chr6:131036766-131036767
allele	C/T
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:11)

rs_ID	r²[population]
rs17059488	0.85[AFR][1000 genomes]
rs57936989	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58234734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61591453	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6914486	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73772392	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73772394	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73772400	0.85[AFR][1000 genomes]
rs73774118	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7740130	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7740434	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533971	chr6:130490694-131172051	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv830806	chr6:130938330-131107137	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv604664	chr6:131004998-131115817	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv3376496	chr6:131036719-131037046	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131030000-131037200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr6:131033200-131036800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr6:131034600-131036800	Enhancers	Fetal Stomach	stomach
4	chr6:131034800-131036800	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr6:131035200-131037600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr6:131035400-131037800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr6:131035400-131038000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr6:131035400-131038000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr6:131036000-131037600	Enhancers	Colon Smooth Muscle	Colon
10	chr6:131036200-131036800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr6:131036400-131036800	Enhancers	H9 Cell Line	embryonic stem cell
12	chr6:131036400-131036800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr6:131036400-131036800	Enhancers	iPS-15b 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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