Variant report

Variant	rs1546176
Chromosome Location	chr4:79483435-79483436
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:79481834..79483638-chr4:79484393..79486934,2	K562	blood:
2	chr4:79476370..79478643-chr4:79482902..79485016,2	K562	blood:
3	chr4:79481834..79484233-chr4:79484393..79486934,3	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1390738	0.82[ASW][hapmap]
rs1546177	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1546178	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4975071	1.00[ASW][hapmap];0.86[CHB][hapmap];0.84[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.91[MKK][hapmap];0.92[TSI][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs931602	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009633	chr4:78887573-79652236	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS 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	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1546176	ANXA3	cis	multi-tissue	Pritchard

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79473400-79485400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr4:79473600-79487200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:79474400-79486600	Weak transcription	Psoas Muscle	Psoas
4	chr4:79474400-79527200	Weak transcription	Spleen	Spleen
5	chr4:79474600-79488200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr4:79475600-79483800	Genic enhancers	HMEC	breast
7	chr4:79476800-79486600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:79478400-79483600	Enhancers	HUVEC	blood vessel
9	chr4:79478800-79484200	Genic enhancers	NHEK	skin
10	chr4:79478800-79484800	Genic enhancers	Primary neutrophils fromperipheralblood	blood
11	chr4:79478800-79489800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:79480000-79484200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr4:79481200-79484000	Enhancers	NH-A	brain
14	chr4:79481400-79483600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr4:79481400-79483600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:79481400-79483600	Enhancers	HSMM	muscle
17	chr4:79481400-79483600	Enhancers	NHLF	lung
18	chr4:79481400-79483800	Enhancers	NHDF-Ad	bronchial
19	chr4:79481400-79483800	Enhancers	Osteobl	bone
20	chr4:79481400-79484000	Enhancers	Muscle Satellite Cultured Cells	--
21	chr4:79481400-79484000	Enhancers	Stomach Mucosa	stomach
22	chr4:79481400-79484400	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr4:79481400-79484400	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr4:79481400-79484600	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr4:79481600-79484600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr4:79481600-79484600	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr4:79481800-79483800	Enhancers	Fetal Intestine Small	intestine
28	chr4:79481800-79521000	Weak transcription	Right Ventricle	heart
29	chr4:79482200-79484000	Enhancers	Colon Smooth Muscle	Colon
30	chr4:79482400-79483600	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr4:79482400-79483600	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr4:79482400-79486400	Weak transcription	Lung	lung
33	chr4:79482400-79494800	Weak transcription	Left Ventricle	heart
34	chr4:79482600-79487200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr4:79482600-79487200	Weak transcription	Placenta	Placenta
36	chr4:79482600-79488000	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr4:79482600-79490600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr4:79482800-79483600	Enhancers	A549	lung
39	chr4:79482800-79484000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr4:79482800-79484000	Weak transcription	Gastric	stomach
41	chr4:79482800-79486600	Weak transcription	Right Atrium	heart
42	chr4:79482800-79486800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr4:79482800-79488000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr4:79482800-79490800	Weak transcription	Fetal Stomach	stomach
45	chr4:79482800-79505000	Weak transcription	Fetal Lung	lung
46	chr4:79483000-79483600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr4:79483000-79484000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr4:79483000-79484600	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr4:79483000-79485000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr4:79483000-79485400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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