Variant report

Variant	rs1714005
Chromosome Location	chr4:57948823-57948824
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	chr4:57947814..57949862-chr4:57955509..57958047,2	MCF-7	breast:
2	chr4:57947462..57949584-chr4:57951331..57953950,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10015212	0.85[CHD][hapmap];0.81[JPT][hapmap]
rs10019698	0.81[JPT][hapmap]
rs10516163	0.92[MEX][hapmap]
rs11722333	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13141016	0.84[CEU][hapmap];0.85[AMR][1000 genomes]
rs1522609	0.82[CEU][hapmap];0.81[JPT][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1620509	0.87[CEU][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1714004	0.82[CEU][hapmap];0.87[CHD][hapmap];0.87[GIH][hapmap];0.81[JPT][hapmap];0.84[MEX][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1714008	0.84[CEU][hapmap];0.81[JPT][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1714009	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1714019	0.81[CEU][hapmap];0.82[GIH][hapmap];0.92[MEX][hapmap];0.85[AMR][1000 genomes]
rs1718829	0.80[JPT][hapmap]
rs1718858	0.85[CHD][hapmap];0.81[JPT][hapmap]
rs1718859	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1718861	0.82[CEU][hapmap];0.82[CHD][hapmap];0.87[GIH][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4242004	0.84[AMR][1000 genomes]
rs7695536	0.84[CHD][hapmap];0.84[GIH][hapmap];0.82[JPT][hapmap];0.89[TSI][hapmap];0.92[YRI][hapmap];0.88[AMR][1000 genomes];0.84[EUR][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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1714005	IGFBP7	cis	parietal	SCAN
rs1714005	FIP1L1	cis	parietal	SCAN

Chromatin state (count:61 , 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	chr4:57938000-57955800	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr4:57939800-57949800	Enhancers	HMEC	breast
4	chr4:57942800-57960400	Weak transcription	Psoas Muscle	Psoas
5	chr4:57943200-57950000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:57943800-57950200	Enhancers	NHLF	lung
7	chr4:57944400-57964000	Weak transcription	Fetal Thymus	thymus
8	chr4:57944800-57950000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr4:57945000-57950000	Enhancers	NHDF-Ad	bronchial
10	chr4:57945200-57958000	Weak transcription	Gastric	stomach
11	chr4:57945200-57960400	Weak transcription	Pancreas	Pancrea
12	chr4:57945400-57950000	Enhancers	NHEK	skin
13	chr4:57946000-57950000	Enhancers	Left Ventricle	heart
14	chr4:57946200-57949200	Enhancers	Right Atrium	heart
15	chr4:57946600-57949800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:57946600-57950800	Genic enhancers	NH-A	brain
17	chr4:57946800-57949200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr4:57946800-57950000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr4:57946800-57950000	Enhancers	Adipose Nuclei	Adipose
20	chr4:57946800-57950000	Enhancers	Ovary	ovary
21	chr4:57947000-57950000	Enhancers	HSMMtube	muscle
22	chr4:57947200-57949000	Weak transcription	Small Intestine	intestine
23	chr4:57947200-57949600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr4:57947200-57950600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr4:57947200-57958000	Weak transcription	Aorta	Aorta
26	chr4:57947400-57949000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr4:57947400-57950000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr4:57948000-57955600	Weak transcription	Primary hematopoietic stem cells	blood
29	chr4:57948000-57955800	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr4:57948200-57949000	Weak transcription	Fetal Muscle Leg	muscle
31	chr4:57948200-57949400	Weak transcription	Fetal Lung	lung
32	chr4:57948200-57949600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr4:57948200-57950800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr4:57948200-57951000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr4:57948200-57951000	Enhancers	HUVEC	blood vessel
36	chr4:57948200-57951600	Weak transcription	Fetal Heart	heart
37	chr4:57948200-57952000	Weak transcription	Right Ventricle	heart
38	chr4:57948400-57949200	Weak transcription	Rectal Smooth Muscle	rectum
39	chr4:57948400-57949400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr4:57948400-57949400	Weak transcription	Fetal Stomach	stomach
41	chr4:57948400-57949400	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr4:57948400-57949400	Weak transcription	Hela-S3	cervix
43	chr4:57948400-57949600	Weak transcription	Brain Cingulate Gyrus	brain
44	chr4:57948400-57950200	Enhancers	Muscle Satellite Cultured Cells	--
45	chr4:57948400-57950800	Enhancers	A549	lung
46	chr4:57948400-57955800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr4:57948400-57956000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr4:57948400-57965200	Weak transcription	Brain Anterior Caudate	brain
49	chr4:57948600-57949800	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr4:57948600-57950800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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