Variant report

Variant	rs1718858
Chromosome Location	chr4:57948187-57948188
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:57947814..57949862-chr4:57955509..57958047,2	MCF-7	breast:
2	chr4:57947462..57949584-chr4:57951331..57953950,2	K562	blood:
3	chr4:57943158..57945422-chr4:57946459..57948764,2	K562	blood:

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

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

rs_ID	r²[population]
rs10015212	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10019698	0.87[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1522609	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1620509	0.95[ASN][1000 genomes]
rs1714004	0.85[ASW][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1714005	0.85[CHD][hapmap];0.81[JPT][hapmap]
rs1714006	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1714007	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1714008	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1714009	0.95[ASN][1000 genomes]
rs1718829	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1718859	0.95[ASN][1000 genomes]
rs1718861	0.86[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs6827171	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1718858	IGFBP7	cis	parietal	SCAN

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57934400-57951600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:57934600-57948200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:57938000-57955800	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr4:57939800-57949800	Enhancers	HMEC	breast
5	chr4:57942800-57960400	Weak transcription	Psoas Muscle	Psoas
6	chr4:57943200-57950000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:57943800-57948600	Enhancers	HSMM	muscle
8	chr4:57943800-57950200	Enhancers	NHLF	lung
9	chr4:57944000-57948200	Enhancers	Fetal Lung	lung
10	chr4:57944000-57948400	Enhancers	Fetal Stomach	stomach
11	chr4:57944400-57964000	Weak transcription	Fetal Thymus	thymus
12	chr4:57944800-57950000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr4:57945000-57948200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr4:57945000-57950000	Enhancers	NHDF-Ad	bronchial
15	chr4:57945200-57958000	Weak transcription	Gastric	stomach
16	chr4:57945200-57960400	Weak transcription	Pancreas	Pancrea
17	chr4:57945400-57948200	Enhancers	Fetal Heart	heart
18	chr4:57945400-57948400	Enhancers	HepG2	liver
19	chr4:57945400-57948600	Enhancers	Brain Hippocampus Middle	brain
20	chr4:57945400-57948800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:57945400-57950000	Enhancers	NHEK	skin
22	chr4:57945600-57948400	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr4:57945600-57948600	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr4:57945600-57948600	Enhancers	Colon Smooth Muscle	Colon
25	chr4:57945600-57948800	Enhancers	Fetal Kidney	kidney
26	chr4:57945800-57948600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr4:57946000-57948400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr4:57946000-57950000	Enhancers	Left Ventricle	heart
29	chr4:57946200-57948200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr4:57946200-57948600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr4:57946200-57949200	Enhancers	Right Atrium	heart
32	chr4:57946400-57948200	Weak transcription	Brain Anterior Caudate	brain
33	chr4:57946400-57948400	Weak transcription	Fetal Intestine Small	intestine
34	chr4:57946600-57948400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr4:57946600-57949800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr4:57946600-57950800	Genic enhancers	NH-A	brain
37	chr4:57946800-57948200	Enhancers	Right Ventricle	heart
38	chr4:57946800-57948400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr4:57946800-57948400	Enhancers	Hela-S3	cervix
40	chr4:57946800-57949200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr4:57946800-57950000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr4:57946800-57950000	Enhancers	Adipose Nuclei	Adipose
43	chr4:57946800-57950000	Enhancers	Ovary	ovary
44	chr4:57947000-57948400	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr4:57947000-57948400	Enhancers	Rectal Smooth Muscle	rectum
46	chr4:57947000-57948400	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr4:57947000-57950000	Enhancers	HSMMtube	muscle
48	chr4:57947200-57948200	Weak transcription	Spleen	Spleen
49	chr4:57947200-57948600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr4:57947200-57949000	Weak transcription	Small Intestine	intestine

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