Variant report

Variant	rs73214051
Chromosome Location	chr4:7935754-7935755
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr4:7935644-7935971	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr4:7935670-7936390	IMR90	lung:	n/a	n/a

Variant related genes	Relation type
ENSG00000228919	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11733177	0.82[ASN][1000 genomes]
rs11930623	0.82[ASN][1000 genomes]
rs17771470	0.82[ASN][1000 genomes]
rs55938116	0.82[ASN][1000 genomes]
rs56078222	0.82[ASN][1000 genomes]
rs62290601	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv34140	chr4:7787936-8172491	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	esv2754386	chr4:7822449-7992909	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2756298	chr4:7822449-7992909	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv878578	chr4:7841833-7969594	Enhancers Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs73214051	AFAP1	cis	Skin Sun Exposed Lower leg	GTEx
rs73214051	AFAP1	cis	Esophagus Mucosa	GTEx
rs73214051	AFAP1	cis	Whole Blood	GTEx

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7907800-7935800	Weak transcription	Right Ventricle	heart
2	chr4:7926600-7936600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr4:7931400-7939800	Weak transcription	Fetal Kidney	kidney
4	chr4:7931600-7939600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr4:7931600-7939600	Weak transcription	Ovary	ovary
6	chr4:7931600-7939600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr4:7931600-7939800	Weak transcription	Lung	lung
8	chr4:7931800-7935800	Weak transcription	NHDF-Ad	bronchial
9	chr4:7931800-7937200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr4:7931800-7937600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:7931800-7938000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr4:7931800-7938600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr4:7931800-7939600	Weak transcription	Brain Angular Gyrus	brain
14	chr4:7932000-7935800	Weak transcription	Stomach Mucosa	stomach
15	chr4:7932000-7936200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr4:7932000-7937400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr4:7932000-7938000	Weak transcription	Brain Germinal Matrix	brain
18	chr4:7932000-7938800	Weak transcription	Fetal Lung	lung
19	chr4:7932000-7939600	Weak transcription	Brain Anterior Caudate	brain
20	chr4:7932000-7939600	Weak transcription	Duodenum Mucosa	Duodenum
21	chr4:7932000-7939600	Weak transcription	Left Ventricle	heart
22	chr4:7932000-7939600	Weak transcription	NHLF	lung
23	chr4:7932000-7939800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr4:7932000-7939800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr4:7932000-7939800	Weak transcription	Small Intestine	intestine
26	chr4:7932200-7935800	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr4:7932200-7936000	Weak transcription	Colonic Mucosa	Colon
28	chr4:7932200-7936000	Weak transcription	Colon Smooth Muscle	Colon
29	chr4:7932200-7936000	Weak transcription	Right Atrium	heart
30	chr4:7932200-7938400	Weak transcription	Fetal Muscle Trunk	muscle
31	chr4:7932200-7939600	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr4:7932200-7939600	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr4:7932200-7939800	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr4:7932200-7939800	Weak transcription	Pancreas	Pancrea
35	chr4:7932400-7936000	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr4:7932400-7936600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr4:7932400-7937200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr4:7932400-7937400	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr4:7932400-7939600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr4:7932600-7937400	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr4:7932800-7939600	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr4:7933000-7935800	Weak transcription	Fetal Heart	heart
43	chr4:7933200-7935800	Weak transcription	Hela-S3	cervix
44	chr4:7934000-7935800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr4:7934200-7936200	Strong transcription	Muscle Satellite Cultured Cells	--
46	chr4:7934200-7936400	Strong transcription	Fetal Stomach	stomach
47	chr4:7934400-7935800	Strong transcription	A549	lung
48	chr4:7934400-7936600	Strong transcription	Fetal Intestine Large	intestine
49	chr4:7934800-7936400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr4:7934800-7936400	Strong transcription	Fetal Intestine Small	intestine

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