Variant report

Variant	rs60930947
Chromosome Location	chr5:17024213-17024214
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:17017463..17019806-chr5:17023489..17025073,2	MCF-7	breast:
2	chr5:16935759..16937605-chr5:17023658..17025231,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145555	Chromatin interaction

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

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

rs_ID	r²[population]
rs11133870	0.87[ASN][1000 genomes]
rs11133871	0.91[ASN][1000 genomes]
rs11744619	0.91[ASN][1000 genomes]
rs12658408	0.85[ASN][1000 genomes]
rs34715075	0.82[ASN][1000 genomes]
rs34891284	0.87[ASN][1000 genomes]
rs34945488	0.82[ASN][1000 genomes]
rs4374758	0.82[ASN][1000 genomes]
rs4409083	0.85[ASN][1000 genomes]
rs4446458	0.85[ASN][1000 genomes]
rs4513695	0.85[ASN][1000 genomes]
rs67553836	0.82[ASN][1000 genomes]
rs6859425	0.91[ASN][1000 genomes]
rs6894767	0.87[ASN][1000 genomes]
rs7706916	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025225	chr5:16714512-17234866	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1015247	chr5:16748966-17133274	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv880277	chr5:16829442-17316288	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	esv3510797	chr5:16966764-17125849	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv3510798	chr5:16966764-17125849	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv1795984	chr5:16973769-17078295	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv1796588	chr5:17000364-17033610	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1017222	chr5:17001819-17133274	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1021972	chr5:17011758-17091878	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17017800-17025600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:17019400-17024800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:17019800-17024800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:17019800-17024800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:17019800-17024800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr5:17020000-17024800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:17021600-17024600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr5:17021800-17024800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr5:17022000-17024800	Weak transcription	HUVEC	blood vessel
10	chr5:17022200-17024800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr5:17022400-17024800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr5:17022400-17025000	Weak transcription	Fetal Lung	lung
13	chr5:17022600-17024600	Weak transcription	NHEK	skin
14	chr5:17022600-17024800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:17022600-17024800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr5:17022600-17024800	Weak transcription	HMEC	breast
17	chr5:17022600-17024800	Weak transcription	NHDF-Ad	bronchial
18	chr5:17022600-17024800	Weak transcription	NHLF	lung
19	chr5:17022800-17024800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr5:17022800-17024800	Weak transcription	Fetal Muscle Leg	muscle
21	chr5:17022800-17024800	Weak transcription	Osteobl	bone
22	chr5:17023800-17024800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr5:17023800-17024800	Weak transcription	A549	lung
24	chr5:17023800-17024800	Weak transcription	NH-A	brain
25	chr5:17024000-17024400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr5:17024000-17024600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr5:17024200-17024600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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