Variant report

Variant	rs7375284
Chromosome Location	chr4:7865045-7865046
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10938695	0.82[ASN][1000 genomes]
rs13115283	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28376859	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28410206	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28500712	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28503942	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28572044	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4549363	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59283470	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59521811	0.81[ASN][1000 genomes]
rs62289323	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62289332	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6831381	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6845653	0.88[ASN][1000 genomes]
rs7376648	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7378106	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	esv3330221	chr4:7863700-7868089	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7375284	AFAP1	cis	Whole Blood	GTEx

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7848000-7872200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:7852600-7873600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr4:7856200-7872800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr4:7856400-7865600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr4:7856400-7865800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr4:7857600-7873000	Weak transcription	Colonic Mucosa	Colon
7	chr4:7857800-7896400	Weak transcription	Spleen	Spleen
8	chr4:7859000-7865600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr4:7859400-7865600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr4:7859400-7865600	Genic enhancers	Osteobl	bone
11	chr4:7859600-7869000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr4:7859600-7869400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr4:7859800-7865600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr4:7859800-7865600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr4:7859800-7865600	Weak transcription	Brain Angular Gyrus	brain
16	chr4:7859800-7865600	Weak transcription	Stomach Mucosa	stomach
17	chr4:7859800-7872600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr4:7860000-7865600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr4:7860000-7865600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr4:7860200-7867600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr4:7860400-7865600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr4:7860400-7870200	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr4:7860600-7865600	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr4:7860800-7865600	Weak transcription	Gastric	stomach
25	chr4:7860800-7865600	Weak transcription	Lung	lung
26	chr4:7860800-7865600	Weak transcription	Pancreas	Pancrea
27	chr4:7860800-7869000	Weak transcription	Aorta	Aorta
28	chr4:7860800-7872800	Weak transcription	Right Ventricle	heart
29	chr4:7861200-7872800	Weak transcription	Psoas Muscle	Psoas
30	chr4:7861400-7865600	Weak transcription	HepG2	liver
31	chr4:7862000-7865200	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr4:7862000-7865600	Genic enhancers	HSMM	muscle
33	chr4:7862200-7865200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr4:7862200-7865400	Enhancers	Fetal Brain Male	brain
35	chr4:7862400-7865400	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr4:7862600-7865200	Enhancers	Fetal Lung	lung
37	chr4:7862600-7865600	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr4:7862600-7870000	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr4:7862800-7865600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr4:7862800-7865600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr4:7862800-7865600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr4:7862800-7865600	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr4:7862800-7865600	Weak transcription	Esophagus	oesophagus
44	chr4:7862800-7865600	Weak transcription	Ovary	ovary
45	chr4:7862800-7868600	Weak transcription	Left Ventricle	heart
46	chr4:7863000-7865400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr4:7863200-7865600	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr4:7863200-7867400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr4:7863400-7865200	Enhancers	Fetal Muscle Trunk	muscle
50	chr4:7863400-7865400	Enhancers	Fetal Heart	heart

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