Variant report

Variant	rs4975143
Chromosome Location	chr4:79466047-79466048
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:79464026..79467254-chr4:79471898..79474362,3	MCF-7	breast:
2	chr4:79465962..79468442-chr4:79470106..79473828,4	MCF-7	breast:
3	chr4:79463978..79466119-chr4:79474806..79476481,2	K562	blood:
4	chr4:79463825..79467444-chr4:79478158..79482300,4	MCF-7	breast:
5	chr4:79463304..79464850-chr4:79465136..79467888,2	K562	blood:

Variant related genes	Relation type
ENSG00000138772	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11098227	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11098228	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11098229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11936220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11940309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13137102	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13142813	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17003337	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17003342	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34970825	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs36039411	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3749482	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3749485	0.82[ASN][1000 genomes]
rs3811747	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4563523	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4975144	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66676781	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs67325389	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9760192	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9761952	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[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
rs4975143	ANXA3	cis	Esophagus Muscularis	GTEx

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79385000-79467400	Weak transcription	Fetal Brain Male	brain
2	chr4:79393800-79467200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr4:79401000-79467200	Weak transcription	Psoas Muscle	Psoas
4	chr4:79428200-79466200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr4:79435600-79467200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr4:79440600-79467200	Weak transcription	Left Ventricle	heart
7	chr4:79444800-79472400	Weak transcription	Right Atrium	heart
8	chr4:79453400-79467200	Weak transcription	Placenta	Placenta
9	chr4:79456400-79471200	Weak transcription	Fetal Kidney	kidney
10	chr4:79457000-79471200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr4:79458600-79471000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr4:79462200-79467200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr4:79462200-79468800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr4:79462600-79467800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr4:79463000-79466200	Enhancers	Fetal Heart	heart
16	chr4:79463000-79467600	Enhancers	HMEC	breast
17	chr4:79463000-79468000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr4:79463000-79468400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr4:79463000-79472200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr4:79463200-79466400	Weak transcription	HepG2	liver
21	chr4:79463200-79467600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:79463200-79470800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr4:79463400-79467800	Enhancers	NHDF-Ad	bronchial
24	chr4:79463400-79467800	Enhancers	NHLF	lung
25	chr4:79463400-79468000	Enhancers	Hela-S3	cervix
26	chr4:79463600-79466600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr4:79463600-79471200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr4:79463600-79472600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr4:79463800-79466800	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr4:79463800-79471800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr4:79464200-79466200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:79464200-79466200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr4:79464200-79466200	Enhancers	Fetal Intestine Large	intestine
34	chr4:79464200-79466400	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr4:79464200-79466600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr4:79464200-79466600	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr4:79464200-79467400	Enhancers	A549	lung
38	chr4:79464200-79467600	Enhancers	Fetal Lung	lung
39	chr4:79464200-79469800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr4:79464600-79466400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr4:79464600-79467600	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr4:79464800-79467200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr4:79464800-79467200	Weak transcription	Pancreas	Pancrea
44	chr4:79464800-79471200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr4:79464800-79472200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr4:79465000-79466600	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr4:79465200-79466400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr4:79465200-79466600	Weak transcription	NHEK	skin
49	chr4:79465200-79467200	Weak transcription	HSMMtube	muscle
50	chr4:79465400-79466200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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