Variant report

Variant	rs602717
Chromosome Location	chr6:27848275-27848276
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs172083	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs200945	1.00[AMR][1000 genomes]
rs200946	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs200957	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs200960	1.00[AMR][1000 genomes]
rs6902266	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022797	chr6:27396961-27864277	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	390 gene(s)	inside rSNPs	diseases
2	nsv432858	chr6:27719375-28011652	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	387 gene(s)	inside rSNPs	diseases
3	nsv1017440	chr6:27734824-27864277	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	370 gene(s)	inside rSNPs	diseases
4	nsv1022173	chr6:27734824-27959408	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	379 gene(s)	inside rSNPs	diseases
5	nsv883512	chr6:27748631-27969004	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	379 gene(s)	inside rSNPs	diseases
6	nsv601208	chr6:27810626-27969004	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	237 gene(s)	inside rSNPs	diseases
7	nsv965700	chr6:27845514-27848765	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27842200-27857000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr6:27842400-27850600	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr6:27842600-27855600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:27842800-27855600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr6:27843200-27849200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:27846800-27850000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr6:27847800-27849400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:27848000-27855800	Weak transcription	Dnd41	blood
9	chr6:27848200-27855400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr6:27848200-27855800	Weak transcription	K562	blood
11	chr6:27848200-27857000	Weak transcription	Thymus	Thymus

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dbSNP/dbVar ID: rs12345 /nsv7879
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