Variant report

Variant	rs73214069
Chromosome Location	chr4:7965250-7965251
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:7959441..7961778-chr4:7964289..7966996,2	K562	blood:
2	chr4:7961563..7964655-chr4:7964819..7967108,3	K562	blood:
3	chr4:7965044..7967214-chr4:7970387..7972613,2	MCF-7	breast:
4	chr4:7958027..7960096-chr4:7963574..7966311,3	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10008860	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11722433	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11726359	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11730568	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11731931	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11733842	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28850594	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55943378	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
6	nsv593621	chr4:7943106-7969594	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv829851	chr4:7958698-8049060	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised 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 miRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs73214069	AFAP1	cis	Whole Blood	GTEx

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7959400-7971600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:7961800-7965400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:7962800-7966600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:7962800-7966800	Weak transcription	Left Ventricle	heart
5	chr4:7962800-7966800	Weak transcription	Spleen	Spleen
6	chr4:7963000-7966400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr4:7963000-7966600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr4:7963000-7966800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr4:7963000-7968200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr4:7963000-7971600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr4:7963200-7965800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr4:7963200-7966400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr4:7963200-7966400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr4:7963200-7966400	Weak transcription	Fetal Lung	lung
15	chr4:7963200-7966400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr4:7963200-7966400	Weak transcription	A549	lung
17	chr4:7963200-7966600	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr4:7963200-7966800	Weak transcription	Right Ventricle	heart
19	chr4:7963200-7967400	Weak transcription	Pancreas	Pancrea
20	chr4:7963200-7968000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr4:7963200-7969200	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr4:7963200-7969200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr4:7963200-7969400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr4:7963200-7969800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr4:7963200-7971600	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr4:7963200-7971800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr4:7963400-7965600	Weak transcription	Fetal Thymus	thymus
28	chr4:7963400-7965800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr4:7963400-7966200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr4:7963400-7966400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr4:7963400-7966400	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr4:7963400-7966400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr4:7963400-7966400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr4:7963400-7966600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr4:7963400-7966600	Weak transcription	Stomach Mucosa	stomach
36	chr4:7963400-7966800	Weak transcription	HUVEC	blood vessel
37	chr4:7963400-7975400	Weak transcription	Aorta	Aorta
38	chr4:7963600-7965800	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr4:7963600-7966000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr4:7963600-7966600	Weak transcription	Lung	lung
41	chr4:7963600-7969400	Weak transcription	Fetal Kidney	kidney
42	chr4:7963800-7966400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr4:7963800-7966600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr4:7963800-7969200	Weak transcription	Colon Smooth Muscle	Colon
45	chr4:7963800-7969400	Weak transcription	Osteobl	bone
46	chr4:7964200-7965600	Enhancers	Fetal Heart	heart
47	chr4:7964200-7967600	Enhancers	Placenta Amnion	Placenta Amnion
48	chr4:7964400-7965400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr4:7964400-7965400	Flanking Active TSS	HepG2	liver
50	chr4:7964400-7965600	Enhancers	Brain Hippocampus Middle	brain

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