Variant report

Variant	rs1247589
Chromosome Location	chr4:74486889-74486890
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1247584	1.00[AMR][1000 genomes]
rs1247585	1.00[AMR][1000 genomes]
rs1247586	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1247590	1.00[AMR][1000 genomes]
rs1247591	1.00[AMR][1000 genomes]
rs1247592	1.00[AMR][1000 genomes]
rs1247595	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs1247596	1.00[AMR][1000 genomes]
rs1247598	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs1247600	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs1261933	1.00[AMR][1000 genomes]
rs1528920	1.00[AMR][1000 genomes]
rs1528921	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs1729715	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs1729716	1.00[AMR][1000 genomes]
rs1745285	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs1745288	1.00[AMR][1000 genomes]
rs2476027	1.00[AMR][1000 genomes]
rs55678226	1.00[AMR][1000 genomes]
rs6826233	1.00[AMR][1000 genomes]
rs72865466	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001725	chr4:74354050-74860924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv530126	chr4:74376622-74843892	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1008104	chr4:74468434-74621952	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74482000-74487000	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr4:74485800-74490600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr4:74486200-74497200	Weak transcription	Gastric	stomach
4	chr4:74486400-74487000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
5	chr4:74486400-74487000	Flanking Active TSS	HMEC	breast
6	chr4:74486600-74487200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr4:74486600-74487400	Enhancers	Fetal Thymus	thymus
8	chr4:74486600-74487600	Enhancers	Placenta	Placenta
9	chr4:74486600-74488000	Enhancers	Fetal Intestine Large	intestine
10	chr4:74486600-74488000	Enhancers	Stomach Mucosa	stomach
11	chr4:74486800-74487000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
12	chr4:74486800-74487000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr4:74486800-74487000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr4:74486800-74487200	Enhancers	Duodenum Mucosa	Duodenum
15	chr4:74486800-74487200	Enhancers	A549	lung
16	chr4:74486800-74487600	Enhancers	NHEK	skin
17	chr4:74486800-74487800	Weak transcription	Thymus	Thymus
18	chr4:74486800-74488000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:74486800-74488000	Enhancers	Fetal Intestine Small	intestine
20	chr4:74486800-74488000	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr4:74486800-74489000	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr4:74486800-74489400	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr4:74486800-74489600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr4:74486800-74490200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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