Variant report

Variant	rs7739527
Chromosome Location	chr6:4838827-4838828
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1265329	1.00[YRI][hapmap]
rs1265331	1.00[YRI][hapmap]
rs233475	1.00[YRI][hapmap]
rs2875969	1.00[YRI][hapmap]
rs4367417	1.00[YRI][hapmap]
rs59561097	0.81[AFR][1000 genomes]
rs808591	0.80[AFR][1000 genomes]
rs808605	0.83[AFR][1000 genomes]
rs808609	0.83[AFR][1000 genomes]
rs808610	0.83[AFR][1000 genomes]
rs808619	1.00[YRI][hapmap]
rs808623	1.00[YRI][hapmap]
rs808624	1.00[YRI][hapmap]
rs808637	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3366530	chr6:4471528-4865322	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1023527	chr6:4729592-5387176	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv2422499	chr6:4745428-5073222	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1015888	chr6:4787784-4883663	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv966675	chr6:4819733-4855009	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv830577	chr6:4834567-5050544	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4820400-4844200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:4821200-4853600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr6:4830000-4840600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr6:4830000-4848800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:4830800-4844200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr6:4835200-4844200	Weak transcription	NHEK	skin
7	chr6:4836200-4844600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr6:4836800-4848600	Weak transcription	Right Ventricle	heart
9	chr6:4837200-4842800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr6:4837400-4839200	Weak transcription	Primary B cells from cord blood	blood
11	chr6:4837400-4840400	Weak transcription	K562	blood
12	chr6:4837400-4848400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr6:4837600-4839200	Weak transcription	Hela-S3	cervix
14	chr6:4838400-4839200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr6:4838800-4839200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr6:4838800-4839600	ZNF genes & repeats	Primary T cells from cord blood	blood
17	chr6:4838800-4839600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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