Variant report

Variant	rs7378106
Chromosome Location	chr4:7867470-7867471
allele	A/C
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	MAFK	chr4:7867297-7867593	IMR90	lung:	n/a	chr4:7867416-7867431 chr4:7867416-7867427 chr4:7867417-7867428 chr4:7867417-7867437 chr4:7867416-7867432 chr4:7867420-7867434 chr4:7867417-7867428 chr4:7867416-7867427 chr4:7867415-7867429 chr4:7867419-7867435
2	MAFK	chr4:7867268-7867570	HepG2	liver:	n/a	chr4:7867416-7867431 chr4:7867416-7867427 chr4:7867417-7867428 chr4:7867417-7867437 chr4:7867416-7867432 chr4:7867420-7867434 chr4:7867417-7867428 chr4:7867416-7867427 chr4:7867415-7867429 chr4:7867419-7867435
3	MAFK	chr4:7867279-7867578	HepG2	liver:	n/a	chr4:7867416-7867431 chr4:7867416-7867427 chr4:7867417-7867428 chr4:7867417-7867437 chr4:7867416-7867432 chr4:7867420-7867434 chr4:7867417-7867428 chr4:7867416-7867427 chr4:7867415-7867429 chr4:7867419-7867435
4	MAFK	chr4:7867319-7867512	H1-hESC	embryonic stem cell:	n/a	chr4:7867416-7867431 chr4:7867416-7867427 chr4:7867417-7867428 chr4:7867417-7867437 chr4:7867416-7867432 chr4:7867420-7867434 chr4:7867417-7867428 chr4:7867416-7867427 chr4:7867415-7867429 chr4:7867419-7867435
5	MAFF	chr4:7867318-7867581	HepG2	liver:	n/a	chr4:7867414-7867432 chr4:7867420-7867434

Variant related genes	Relation type
AFAP1	TF binding region

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	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28376859	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28410206	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28500712	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28503942	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28572044	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4549363	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59283470	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59521811	0.81[ASN][1000 genomes]
rs62289323	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62289332	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6831381	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6845653	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7375284	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7376648	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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
rs7378106	AFAP1	cis	Whole Blood	GTEx

Chromatin state (count:105 , 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	chr4:7857600-7873000	Weak transcription	Colonic Mucosa	Colon
5	chr4:7857800-7896400	Weak transcription	Spleen	Spleen
6	chr4:7859600-7869000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr4:7859600-7869400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr4:7859800-7872600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr4:7860200-7867600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr4:7860400-7870200	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr4:7860800-7869000	Weak transcription	Aorta	Aorta
12	chr4:7860800-7872800	Weak transcription	Right Ventricle	heart
13	chr4:7861200-7872800	Weak transcription	Psoas Muscle	Psoas
14	chr4:7862600-7870000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr4:7862800-7868600	Weak transcription	Left Ventricle	heart
16	chr4:7863600-7868400	Weak transcription	Placenta	Placenta
17	chr4:7863600-7869000	Weak transcription	Adipose Nuclei	Adipose
18	chr4:7863600-7871000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr4:7863800-7869000	Weak transcription	Colon Smooth Muscle	Colon
20	chr4:7863800-7869000	Weak transcription	Fetal Brain Female	brain
21	chr4:7863800-7869000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr4:7863800-7872800	Weak transcription	Brain Hippocampus Middle	brain
23	chr4:7864800-7873000	Weak transcription	Primary T cells from cord blood	blood
24	chr4:7865200-7872200	Weak transcription	Right Atrium	heart
25	chr4:7865400-7868400	Weak transcription	Brain Germinal Matrix	brain
26	chr4:7865400-7869000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr4:7865400-7872600	Weak transcription	Fetal Heart	heart
28	chr4:7865400-7875800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr4:7865800-7869200	Weak transcription	Brain Anterior Caudate	brain
30	chr4:7865800-7870000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr4:7865800-7871400	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr4:7865800-7872000	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr4:7865800-7872800	Strong transcription	Fetal Stomach	stomach
34	chr4:7866000-7867600	Genic enhancers	HSMM	muscle
35	chr4:7866000-7867600	Strong transcription	NH-A	brain
36	chr4:7866000-7868600	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr4:7866000-7868600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr4:7866000-7868600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr4:7866000-7868600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr4:7866000-7869000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr4:7866000-7869000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr4:7866000-7869000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr4:7866000-7869000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr4:7866000-7869000	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr4:7866000-7869000	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr4:7866000-7869000	Weak transcription	Duodenum Mucosa	Duodenum
47	chr4:7866000-7869000	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr4:7866000-7869000	Weak transcription	Ovary	ovary
49	chr4:7866000-7869000	Weak transcription	HMEC	breast
50	chr4:7866000-7869000	Weak transcription	NHEK	skin

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