Variant report

Variant	rs7441783
Chromosome Location	chr4:7866500-7866501
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs13115283	0.83[CHB][hapmap]
rs28394500	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28400396	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28485784	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28542303	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28552075	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28584083	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28644432	0.81[EUR][1000 genomes]
rs28650789	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28699608	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28729656	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28738908	0.82[CEU][hapmap];0.84[TSI][hapmap]
rs4549363	0.82[CHB][hapmap]
rs6831381	0.83[CHB][hapmap]

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
rs7441783	AFAP1	cis	cerebellum	SCAN

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	chr4:7863200-7867400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr4:7863400-7867200	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr4:7863600-7868400	Weak transcription	Placenta	Placenta
19	chr4:7863600-7869000	Weak transcription	Adipose Nuclei	Adipose
20	chr4:7863600-7871000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr4:7863800-7869000	Weak transcription	Colon Smooth Muscle	Colon
22	chr4:7863800-7869000	Weak transcription	Fetal Brain Female	brain
23	chr4:7863800-7869000	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr4:7863800-7872800	Weak transcription	Brain Hippocampus Middle	brain
25	chr4:7864000-7866600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr4:7864800-7867200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr4:7864800-7873000	Weak transcription	Primary T cells from cord blood	blood
28	chr4:7865200-7872200	Weak transcription	Right Atrium	heart
29	chr4:7865400-7867200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr4:7865400-7868400	Weak transcription	Brain Germinal Matrix	brain
31	chr4:7865400-7869000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr4:7865400-7872600	Weak transcription	Fetal Heart	heart
33	chr4:7865400-7875800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr4:7865600-7867400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr4:7865800-7869200	Weak transcription	Brain Anterior Caudate	brain
36	chr4:7865800-7870000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr4:7865800-7871400	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr4:7865800-7872000	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr4:7865800-7872800	Strong transcription	Fetal Stomach	stomach
40	chr4:7866000-7866600	Weak transcription	Lung	lung
41	chr4:7866000-7866800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr4:7866000-7866800	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr4:7866000-7866800	Weak transcription	Fetal Muscle Leg	muscle
44	chr4:7866000-7866800	Weak transcription	A549	lung
45	chr4:7866000-7866800	Strong transcription	Osteobl	bone
46	chr4:7866000-7867000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr4:7866000-7867000	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr4:7866000-7867000	Weak transcription	Stomach Smooth Muscle	stomach
49	chr4:7866000-7867000	Weak transcription	HUVEC	blood vessel
50	chr4:7866000-7867200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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