Variant report

Variant	rs11730568
Chromosome Location	chr4:7958643-7958644
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:7958027..7960096-chr4:7963574..7966311,3	MCF-7	breast:
2	chr4:7939022..7943379-chr4:7955959..7960860,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196526	Chromatin interaction
ENSG00000228919	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10008860	0.89[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs11722433	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11726359	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11731931	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11733842	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28850594	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55943378	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73214069	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
7	nsv525135	chr4:7955488-7959029	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11730568	AFAP1	cis	Whole Blood	GTEx

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7951400-7962200	Weak transcription	Small Intestine	intestine
2	chr4:7957000-7958800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:7957000-7958800	Enhancers	Fetal Heart	heart
4	chr4:7957000-7959600	Enhancers	Fetal Intestine Small	intestine
5	chr4:7957000-7962000	Enhancers	Hela-S3	cervix
6	chr4:7957200-7958800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:7957200-7961200	Enhancers	Fetal Intestine Large	intestine
8	chr4:7957400-7959000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:7957400-7959400	Enhancers	Placenta	Placenta
10	chr4:7957600-7959000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:7957600-7959400	Enhancers	Fetal Muscle Leg	muscle
12	chr4:7957800-7959000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr4:7957800-7959000	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr4:7957800-7959400	Enhancers	Fetal Muscle Trunk	muscle
15	chr4:7957800-7960000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr4:7958000-7958800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr4:7958000-7958800	Enhancers	Brain Cingulate Gyrus	brain
18	chr4:7958000-7958800	Enhancers	Brain Hippocampus Middle	brain
19	chr4:7958000-7958800	Enhancers	Fetal Stomach	stomach
20	chr4:7958000-7958800	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr4:7958000-7958800	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr4:7958000-7959000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr4:7958000-7959200	Enhancers	Fetal Lung	lung
24	chr4:7958000-7959200	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr4:7958000-7959200	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr4:7958000-7959400	Enhancers	Duodenum Mucosa	Duodenum
27	chr4:7958000-7959400	Enhancers	Ovary	ovary
28	chr4:7958000-7962400	Enhancers	A549	lung
29	chr4:7958200-7958800	Flanking Active TSS	HepG2	liver
30	chr4:7958200-7959400	Enhancers	Colonic Mucosa	Colon
31	chr4:7958200-7961200	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr4:7958200-7961800	Weak transcription	Stomach Mucosa	stomach
33	chr4:7958400-7958800	Flanking Active TSS	HUVEC	blood vessel
34	chr4:7958400-7959400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr4:7958400-7961800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr4:7958400-7962000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr4:7958400-7962000	Weak transcription	Right Ventricle	heart
38	chr4:7958600-7958800	Enhancers	H9 Cell Line	embryonic stem cell
39	chr4:7958600-7958800	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr4:7958600-7959000	Enhancers	Fetal Kidney	kidney
41	chr4:7958600-7959600	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr4:7958600-7960600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr4:7958600-7960600	Weak transcription	Spleen	Spleen
44	chr4:7958600-7961000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr4:7958600-7961000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr4:7958600-7961000	Weak transcription	Osteobl	bone
47	chr4:7958600-7961600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr4:7958600-7961600	Weak transcription	Pancreas	Pancrea
49	chr4:7958600-7961800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr4:7958600-7961800	Weak transcription	Left Ventricle	heart

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