Variant report

Variant	rs1485730
Chromosome Location	chr3:59826778-59826779
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11915344	1.00[CHD][hapmap]
rs1485731	1.00[ASN][1000 genomes]
rs17061253	0.91[CEU][hapmap];0.88[EUR][1000 genomes]
rs17061321	1.00[CHD][hapmap]
rs17061322	1.00[CHD][hapmap]
rs17061331	1.00[CHD][hapmap]
rs17061346	1.00[CHD][hapmap]
rs1817587	1.00[CHD][hapmap]
rs526389	1.00[ASN][1000 genomes]
rs640115	1.00[GIH][hapmap]
rs7643424	1.00[GIH][hapmap]
rs7643604	1.00[GIH][hapmap]
rs9822080	1.00[GIH][hapmap]
rs9823903	1.00[GIH][hapmap]
rs9855046	1.00[ASN][1000 genomes]
rs9865813	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014601	chr3:59666609-59888166	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
2	nsv1003387	chr3:59756364-59831340	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv460562	chr3:59760118-59826778	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv590381	chr3:59760118-59826778	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv460563	chr3:59772342-59827390	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv590383	chr3:59772342-59827390	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv428085	chr3:59782509-60070116	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv876837	chr3:59800539-59842644	Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv460564	chr3:59821071-59927727	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv590384	chr3:59821071-59927727	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1485730	MCART6	trans	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:59825000-59827200	Enhancers	Fetal Thymus	thymus
2	chr3:59825200-59827200	Enhancers	Primary T cells from cord blood	blood
3	chr3:59825200-59827200	Enhancers	Dnd41	blood
4	chr3:59825200-59827400	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr3:59825200-59828000	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr3:59825400-59826800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr3:59825400-59827400	Enhancers	Primary T cells fromperipheralblood	blood
8	chr3:59825400-59827400	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr3:59825400-59828200	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr3:59825600-59826800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr3:59825600-59827000	Enhancers	Thymus	Thymus
12	chr3:59825800-59826800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr3:59826600-59829600	Weak transcription	Primary B cells from peripheral blood	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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