Variant report

Variant	rs62408905
Chromosome Location	chr3:179171258-179171259
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:179167462..179172988-chr3:179279337..179282140,7	K562	blood:
2	chr3:179167585..179172988-chr3:179278428..179282004,7	K562	blood:

Variant related genes	Relation type
ENSG00000136518	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11715227	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs11717019	0.81[AFR][1000 genomes]
rs12632246	0.81[ASN][1000 genomes]
rs12632708	0.81[AFR][1000 genomes]
rs60388496	0.85[AMR][1000 genomes]
rs62408893	0.81[AFR][1000 genomes]
rs9790192	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998253	chr3:178622707-179196274	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv536814	chr3:178622707-179196274	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1002962	chr3:178943753-179224548	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv536815	chr3:178943753-179224548	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats 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 miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv1003021	chr3:178944806-179246179	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv1006584	chr3:178944822-179241429	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv471116	chr3:178968634-179252263	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	nsv592650	chr3:178968634-179252263	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv1010513	chr3:178976107-179196274	Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv536816	chr3:178976107-179196274	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	nsv1003514	chr3:178990037-179177029	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:179170000-179171800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:179170000-179171800	Weak transcription	HMEC	breast
3	chr3:179170000-179172000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr3:179170000-179172200	Weak transcription	HSMM	muscle
5	chr3:179170000-179172600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:179170200-179171600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr3:179170400-179171400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:179170400-179171800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr3:179170400-179171800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr3:179170400-179171800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr3:179170400-179171800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr3:179170400-179171800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:179170400-179171800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr3:179170400-179171800	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr3:179170400-179171800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr3:179170400-179172200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr3:179170400-179172200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr3:179170400-179172200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr3:179170600-179171600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:179170600-179171600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr3:179170600-179171600	Weak transcription	Primary hematopoietic stem cells	blood
22	chr3:179170600-179171600	Weak transcription	NHEK	skin
23	chr3:179170600-179171800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr3:179170600-179171800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr3:179170800-179172200	Weak transcription	HUVEC	blood vessel
26	chr3:179171000-179171400	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr3:179171000-179171800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr3:179171200-179172600	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr3:179171200-179173400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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