Variant report

Variant	rs72973730
Chromosome Location	chr6:128256981-128256982
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10484718	1.00[ASN][1000 genomes]
rs11752561	1.00[ASN][1000 genomes]
rs13204742	1.00[ASN][1000 genomes]
rs1342649	1.00[ASN][1000 genomes]
rs269996	1.00[ASN][1000 genomes]
rs269999	1.00[ASN][1000 genomes]
rs270001	1.00[ASN][1000 genomes]
rs270002	1.00[ASN][1000 genomes]
rs270003	1.00[ASN][1000 genomes]
rs2780929	1.00[ASN][1000 genomes]
rs34867897	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36082631	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67572105	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs67707912	1.00[ASN][1000 genomes]
rs6921729	1.00[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	esv1849854	chr6:128143774-128287313	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv1024516	chr6:128184182-128298278	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128246000-128260200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:128254200-128271400	Weak transcription	Thymus	Thymus
3	chr6:128254400-128260200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr6:128256200-128260400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr6:128256200-128261400	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr6:128256400-128257200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr6:128256400-128259200	Enhancers	Primary T cells from cord blood	blood
8	chr6:128256400-128261000	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr6:128256600-128261200	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr6:128256600-128261400	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr6:128256800-128257800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr6:128256800-128258000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr6:128256800-128258000	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr6:128256800-128259000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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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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