Variant report

Variant	rs9330348
Chromosome Location	chr4:7883887-7883888
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:7881697..7884478-chr4:7901263..7903029,2	MCF-7	breast:

Extended variants
information (count: 64 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs12641498	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13139805	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13140108	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13151529	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1317111	0.89[ASN][1000 genomes]
rs1320070	0.86[ASN][1000 genomes]
rs1320071	0.86[ASN][1000 genomes]
rs1320074	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1320075	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13435730	0.89[ASN][1000 genomes]
rs17770447	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17833038	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1878325	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2385898	0.90[ASN][1000 genomes]
rs2385900	0.87[ASN][1000 genomes]
rs2385901	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2385902	0.90[ASN][1000 genomes]
rs2385908	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2385909	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2385910	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28370977	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28464089	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28489592	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28631205	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28681260	0.83[EUR][1000 genomes]
rs28715921	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28726254	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28734123	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28752120	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs28795989	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2891928	0.91[ASN][1000 genomes]
rs34179701	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34317049	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34505548	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34685551	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34701321	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34984446	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35661042	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4627847	0.89[ASN][1000 genomes]
rs4696746	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4696778	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4696779	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55937650	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57831033	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62289341	0.82[AFR][1000 genomes]
rs62289351	0.82[AFR][1000 genomes]
rs6811851	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6846317	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6848540	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6857814	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7437940	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7437984	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7441569	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7655918	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7663205	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7686202	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7687431	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7694650	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs938604	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9330348	AFAP1	cis	Whole Blood	GTEx

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7857800-7896400	Weak transcription	Spleen	Spleen
2	chr4:7866000-7885600	Weak transcription	Esophagus	oesophagus
3	chr4:7873600-7894000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:7874600-7887600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr4:7874600-7892800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr4:7874600-7894000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr4:7876000-7891800	Weak transcription	Hela-S3	cervix
8	chr4:7876800-7885400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr4:7877400-7885000	Enhancers	NH-A	brain
10	chr4:7878200-7898400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr4:7878400-7886600	Weak transcription	Small Intestine	intestine
12	chr4:7879000-7888200	Weak transcription	Fetal Intestine Large	intestine
13	chr4:7879400-7888000	Weak transcription	Fetal Brain Female	brain
14	chr4:7879400-7891800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr4:7879800-7886800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr4:7880200-7884800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr4:7880400-7888000	Weak transcription	Brain Anterior Caudate	brain
18	chr4:7881000-7887200	Weak transcription	Brain Germinal Matrix	brain
19	chr4:7881200-7885800	Enhancers	Osteobl	bone
20	chr4:7881200-7887000	Weak transcription	Aorta	Aorta
21	chr4:7881200-7887200	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr4:7881200-7888200	Weak transcription	Psoas Muscle	Psoas
23	chr4:7881200-7888400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr4:7881400-7884200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr4:7881400-7886600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr4:7881400-7887000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr4:7881800-7884000	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr4:7881800-7889800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr4:7881800-7896600	Weak transcription	Lung	lung
30	chr4:7882400-7885400	Enhancers	A549	lung
31	chr4:7882400-7885800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr4:7882600-7885200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr4:7882600-7886400	Weak transcription	HepG2	liver
34	chr4:7882600-7887000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr4:7882600-7888200	Weak transcription	Stomach Mucosa	stomach
36	chr4:7882600-7888400	Weak transcription	Fetal Brain Male	brain
37	chr4:7882800-7884400	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr4:7882800-7884600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr4:7882800-7885600	Weak transcription	Fetal Intestine Small	intestine
40	chr4:7882800-7887200	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr4:7882800-7888000	Weak transcription	NHDF-Ad	bronchial
42	chr4:7883000-7887000	Weak transcription	HSMMtube	muscle
43	chr4:7883000-7887800	Weak transcription	Fetal Lung	lung
44	chr4:7883000-7891800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr4:7883200-7884200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr4:7883200-7884200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr4:7883200-7885600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr4:7883200-7886400	Weak transcription	HSMM	muscle
49	chr4:7883200-7886600	Weak transcription	Rectal Smooth Muscle	rectum
50	chr4:7883200-7886600	Weak transcription	Stomach Smooth Muscle	stomach

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