Variant report

Variant	rs7681378
Chromosome Location	chr4:7945763-7945764
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:7943913..7945893-chr4:7981237..7983380,2	MCF-7	breast:
2	chr4:7940292..7942827-chr4:7945120..7947736,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228919	Chromatin interaction
ENSG00000196526	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1320069	0.86[ASN][1000 genomes]
rs1814873	0.86[ASN][1000 genomes]
rs2385911	0.84[ASN][1000 genomes]
rs2385913	0.82[ASN][1000 genomes]
rs2386056	0.86[ASN][1000 genomes]
rs4235268	0.88[ASN][1000 genomes]
rs4235269	0.88[ASN][1000 genomes]
rs4345163	0.88[ASN][1000 genomes]
rs4385040	0.88[ASN][1000 genomes]
rs4696825	0.90[ASN][1000 genomes]
rs4696827	0.90[ASN][1000 genomes]
rs4696834	0.88[ASN][1000 genomes]
rs5012708	0.88[ASN][1000 genomes]
rs5012709	0.88[ASN][1000 genomes]
rs6447871	0.82[ASN][1000 genomes]
rs6816560	0.86[ASN][1000 genomes]
rs6819776	0.85[ASN][1000 genomes]
rs7655226	0.88[ASN][1000 genomes]
rs7667982	0.84[ASN][1000 genomes]
rs7683285	0.84[ASN][1000 genomes]
rs7685634	0.86[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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7681378	AFAP1	cis	Whole Blood	GTEx

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7941600-7951200	Weak transcription	Small Intestine	intestine
2	chr4:7942000-7946200	Weak transcription	Liver	Liver
3	chr4:7942000-7946400	Weak transcription	Colon Smooth Muscle	Colon
4	chr4:7942000-7946400	Weak transcription	Fetal Stomach	stomach
5	chr4:7942000-7950400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr4:7942000-7951000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr4:7942000-7951400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr4:7942200-7947400	Weak transcription	Fetal Brain Male	brain
9	chr4:7942200-7950600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr4:7942600-7947800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr4:7942800-7948000	Weak transcription	Fetal Kidney	kidney
12	chr4:7943200-7947400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr4:7943200-7947800	Weak transcription	Ovary	ovary
14	chr4:7943400-7946200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:7943600-7946200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr4:7943600-7950600	Weak transcription	Fetal Heart	heart
17	chr4:7943800-7947400	Weak transcription	Pancreas	Pancrea
18	chr4:7944200-7946200	Weak transcription	Fetal Intestine Large	intestine
19	chr4:7944200-7946400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr4:7944200-7947800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr4:7944400-7946200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr4:7944400-7946200	Weak transcription	Fetal Intestine Small	intestine
23	chr4:7945000-7947600	Weak transcription	Fetal Muscle Leg	muscle
24	chr4:7945200-7946200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:7945200-7946200	Weak transcription	A549	lung
26	chr4:7945400-7945800	Weak transcription	HepG2	liver
27	chr4:7945400-7947200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr4:7945400-7957400	Weak transcription	Placenta	Placenta

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