Variant report

Variant	rs58007166
Chromosome Location	chr3:154787957-154787958
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:154786648..154789407-chr3:154799781..154802335,2	K562	blood:
2	chr3:154785573..154787999-chr3:154793340..154794957,2	K562	blood:

Variant related genes	Relation type
ENSG00000196549	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11923608	1.00[EUR][1000 genomes]
rs16824536	1.00[ASN][1000 genomes]
rs34876701	1.00[ASN][1000 genomes]
rs3773906	1.00[EUR][1000 genomes]
rs4414806	1.00[ASN][1000 genomes]
rs55954373	1.00[EUR][1000 genomes]
rs56072333	1.00[EUR][1000 genomes]
rs57231033	1.00[EUR][1000 genomes]
rs58662380	1.00[EUR][1000 genomes]
rs60197267	1.00[EUR][1000 genomes]
rs60339637	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60995161	1.00[EUR][1000 genomes]
rs61057682	1.00[ASN][1000 genomes]
rs61064256	1.00[EUR][1000 genomes]
rs61281054	1.00[EUR][1000 genomes]
rs61489236	1.00[EUR][1000 genomes]
rs61761163	0.86[EUR][1000 genomes]
rs6769341	1.00[ASN][1000 genomes]
rs6770028	1.00[EUR][1000 genomes]
rs6793490	1.00[EUR][1000 genomes]
rs6799870	1.00[EUR][1000 genomes]
rs73874461	1.00[EUR][1000 genomes]
rs73874463	1.00[EUR][1000 genomes]
rs73874467	1.00[EUR][1000 genomes]
rs73874471	1.00[EUR][1000 genomes]
rs73874479	1.00[EUR][1000 genomes]
rs73874487	1.00[ASN][1000 genomes]
rs73874488	1.00[EUR][1000 genomes]
rs73874491	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73874493	1.00[EUR][1000 genomes]
rs73874497	1.00[EUR][1000 genomes]
rs73874498	1.00[ASN][1000 genomes]
rs7632185	1.00[EUR][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	nsv868930	chr3:154076125-154820242	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1000140	chr3:154336261-154905740	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv534289	chr3:154535584-154987166	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv532663	chr3:154561578-154960353	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv999994	chr3:154579254-155175303	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv532664	chr3:154588346-155162615	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 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	chr3:154774600-154788800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:154783600-154788600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr3:154783600-154788800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr3:154783800-154788600	Weak transcription	K562	blood
5	chr3:154784200-154788400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr3:154784200-154788600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:154784600-154788000	Weak transcription	HSMMtube	muscle
8	chr3:154784800-154788000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr3:154785200-154790600	Enhancers	NHDF-Ad	bronchial
10	chr3:154785600-154789600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr3:154786600-154788000	Enhancers	HUVEC	blood vessel
12	chr3:154786600-154790200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr3:154786800-154790200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr3:154787000-154789600	Enhancers	HSMM	muscle
15	chr3:154787000-154789800	Enhancers	Muscle Satellite Cultured Cells	--
16	chr3:154787200-154789200	Enhancers	Dnd41	blood
17	chr3:154787200-154789600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr3:154787400-154788800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr3:154787600-154788000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr3:154787600-154788800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr3:154787600-154788800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr3:154787600-154788800	Enhancers	Osteobl	bone
23	chr3:154787600-154789200	Enhancers	HMEC	breast
24	chr3:154787600-154789600	Enhancers	NH-A	brain
25	chr3:154787600-154790200	Enhancers	NHLF	lung
26	chr3:154787800-154788800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr3:154787800-154788800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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