Variant report

Variant	rs17177064
Chromosome Location	chr4:7930553-7930554
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:7807226..7807954-chr4:7930533..7931051,2	K562	blood:
2	chr4:7930429..7933293-chr4:7935968..7937557,2	MCF-7	breast:
3	chr4:7852354..7852869-chr4:7930519..7931223,2	MCF-7	breast:
4	chr4:7877287..7878806-chr4:7930542..7931312,4	MCF-7	breast:
5	chr4:7924008..7927501-chr4:7928282..7930975,3	MCF-7	breast:
6	chr4:7845826..7846609-chr4:7930534..7931357,3	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11733177	0.82[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes]
rs11733297	0.88[AFR][1000 genomes]
rs11930623	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs12500566	1.00[CHB][hapmap]
rs12509421	0.82[AFR][1000 genomes]
rs13124202	1.00[CHB][hapmap]
rs13137827	1.00[CHB][hapmap]
rs16840961	1.00[CHB][hapmap]
rs17177036	0.86[AFR][1000 genomes]
rs17771470	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs55767717	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17177064	AFAP1	cis	Whole Blood	GTEx
rs17177064	AFAP1	cis	Esophagus Mucosa	GTEx
rs17177064	AFAP1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7899800-7930600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr4:7907800-7935800	Weak transcription	Right Ventricle	heart
3	chr4:7912000-7931200	Weak transcription	Aorta	Aorta
4	chr4:7912800-7931200	Weak transcription	Gastric	stomach
5	chr4:7913000-7930600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr4:7913000-7931000	Weak transcription	Fetal Intestine Large	intestine
7	chr4:7914200-7930800	Weak transcription	Fetal Kidney	kidney
8	chr4:7919200-7930600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr4:7919600-7930800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr4:7919800-7931200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr4:7920600-7931200	Weak transcription	Lung	lung
12	chr4:7921000-7930600	Weak transcription	Esophagus	oesophagus
13	chr4:7921200-7930600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr4:7923000-7931600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr4:7926000-7931200	Weak transcription	NHDF-Ad	bronchial
16	chr4:7926200-7930600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:7926200-7930600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr4:7926400-7930800	Weak transcription	Brain Hippocampus Middle	brain
19	chr4:7926400-7931200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr4:7926600-7930600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr4:7926600-7930600	Weak transcription	Fetal Brain Female	brain
22	chr4:7926600-7930600	Weak transcription	Pancreas	Pancrea
23	chr4:7926600-7930800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr4:7926600-7936600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr4:7926800-7931200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr4:7926800-7931200	Weak transcription	Right Atrium	heart
27	chr4:7926800-7931200	Weak transcription	NHLF	lung
28	chr4:7926800-7935400	Weak transcription	Fetal Brain Male	brain
29	chr4:7927000-7930600	Weak transcription	Brain Cingulate Gyrus	brain
30	chr4:7927000-7930600	Weak transcription	Placenta	Placenta
31	chr4:7927000-7930600	Weak transcription	Hela-S3	cervix
32	chr4:7927000-7930600	Weak transcription	HSMM	muscle
33	chr4:7927000-7931000	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr4:7927000-7931200	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr4:7927000-7931200	Weak transcription	Fetal Heart	heart
36	chr4:7927200-7930600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr4:7927200-7930600	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr4:7927200-7930600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr4:7927200-7930800	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr4:7927400-7931000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr4:7927600-7930600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr4:7927800-7931200	Enhancers	A549	lung
43	chr4:7927800-7932400	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr4:7928000-7930600	Weak transcription	HepG2	liver
45	chr4:7928000-7932000	Enhancers	Stomach Mucosa	stomach
46	chr4:7928200-7932200	Enhancers	Colon Smooth Muscle	Colon
47	chr4:7928400-7930600	Weak transcription	Colonic Mucosa	Colon
48	chr4:7928400-7931200	Weak transcription	Left Ventricle	heart
49	chr4:7928600-7930600	Weak transcription	Fetal Muscle Leg	muscle
50	chr4:7928800-7930600	Weak transcription	Rectal Mucosa Donor 29	rectum

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