Variant report

Variant	rs1714014
Chromosome Location	chr4:57941160-57941161
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs10013945	0.92[EUR][1000 genomes]
rs10866442	0.88[EUR][1000 genomes]
rs11133477	0.88[EUR][1000 genomes]
rs1543178	1.00[CEU][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1543179	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1714013	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1714016	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1718848	0.93[ASW][hapmap];0.96[GIH][hapmap];1.00[LWK][hapmap];0.92[MKK][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes]
rs1718849	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1718850	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2412776	0.94[CEU][hapmap];0.96[GIH][hapmap];0.84[MEX][hapmap];0.85[TSI][hapmap];0.88[EUR][1000 genomes]
rs4508954	0.88[EUR][1000 genomes]
rs4508955	0.88[EUR][1000 genomes]
rs6827768	0.88[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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1714014	POLR2B	cis	parietal	SCAN
rs1714014	SPINK2	cis	cerebellum	SCAN
rs1714014	FIP1L1	cis	parietal	SCAN
rs1714014	KIAA1211	cis	cerebellum	SCAN

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57899600-57942200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr4:57929600-57944400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:57932400-57945600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr4:57932400-57947600	Genic enhancers	Osteobl	bone
5	chr4:57932600-57944000	Weak transcription	Fetal Stomach	stomach
6	chr4:57934400-57951600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:57934600-57948200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr4:57935600-57944000	Weak transcription	Fetal Thymus	thymus
9	chr4:57935800-57945000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr4:57935800-57948000	Weak transcription	Fetal Muscle Leg	muscle
11	chr4:57936200-57945000	Weak transcription	Fetal Muscle Trunk	muscle
12	chr4:57936400-57942000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr4:57937400-57941400	Weak transcription	Fetal Intestine Large	intestine
14	chr4:57937400-57948000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr4:57937600-57942600	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr4:57937600-57944200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr4:57937800-57942000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr4:57937800-57943800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr4:57937800-57944000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr4:57937800-57945000	Weak transcription	Brain Anterior Caudate	brain
21	chr4:57937800-57946800	Weak transcription	Adipose Nuclei	Adipose
22	chr4:57938000-57941200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr4:57938000-57942200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr4:57938000-57945600	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr4:57938000-57955800	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr4:57938600-57941200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr4:57938800-57942600	Enhancers	Right Ventricle	heart
28	chr4:57938800-57947000	Weak transcription	Esophagus	oesophagus
29	chr4:57939000-57942000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr4:57939400-57941200	Enhancers	HSMMtube	muscle
31	chr4:57939800-57941200	Enhancers	Ovary	ovary
32	chr4:57939800-57944200	Enhancers	Muscle Satellite Cultured Cells	--
33	chr4:57939800-57949800	Enhancers	HMEC	breast
34	chr4:57940000-57941200	Enhancers	Aorta	Aorta
35	chr4:57940000-57941800	Enhancers	Stomach Smooth Muscle	stomach
36	chr4:57940000-57942200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr4:57940000-57942600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr4:57940000-57943200	Enhancers	Fetal Kidney	kidney
39	chr4:57940000-57946200	Weak transcription	Lung	lung
40	chr4:57940200-57942200	Weak transcription	Right Atrium	heart
41	chr4:57940200-57942800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr4:57940200-57943800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr4:57940400-57942000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr4:57940400-57942000	Enhancers	NHEK	skin
45	chr4:57940400-57942200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr4:57940400-57943800	Weak transcription	Spleen	Spleen
47	chr4:57940600-57941200	Enhancers	Small Intestine	intestine
48	chr4:57940600-57941200	Enhancers	HSMM	muscle
49	chr4:57940600-57941800	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr4:57940600-57941800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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