Variant report

Variant	rs970349
Chromosome Location	chr4:122871632-122871633
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1396081	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4833780	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.97[TSI][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6831513	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6841843	0.92[GIH][hapmap]
rs6846974	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][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	nsv817261	chr4:122085173-123020068	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv997539	chr4:122544104-123274266	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv530157	chr4:122557302-123248756	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	esv1843861	chr4:122871632-122878371	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	n/a
5	esv1844606	chr4:122871632-122878371	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs970349	FGF2	cis	cerebellum	SCAN
rs970349	CCNA2	cis	cerebellum	SCAN

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122870800-122872200	Active TSS	Fetal Heart	heart
2	chr4:122870800-122873400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr4:122870800-122873800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr4:122871000-122872600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr4:122871000-122873000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:122871000-122873400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
7	chr4:122871000-122873600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr4:122871000-122873600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
9	chr4:122871000-122873600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
10	chr4:122871000-122873600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr4:122871200-122871800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
12	chr4:122871200-122871800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr4:122871200-122872000	Active TSS	Muscle Satellite Cultured Cells	--
14	chr4:122871200-122872000	Active TSS	Brain Hippocampus Middle	brain
15	chr4:122871200-122872000	Enhancers	Pancreas	Pancrea
16	chr4:122871200-122872000	Bivalent Enhancer	Stomach Mucosa	stomach
17	chr4:122871200-122872200	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr4:122871200-122872200	Active TSS	Brain Cingulate Gyrus	brain
19	chr4:122871200-122872200	Bivalent Enhancer	Fetal Brain Male	brain
20	chr4:122871200-122872200	Active TSS	Right Ventricle	heart
21	chr4:122871200-122872200	Active TSS	Stomach Smooth Muscle	stomach
22	chr4:122871200-122872400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
23	chr4:122871200-122872400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
24	chr4:122871200-122872400	Flanking Bivalent TSS/Enh	HepG2	liver
25	chr4:122871200-122872600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
26	chr4:122871200-122872600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr4:122871200-122872600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr4:122871200-122872600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
29	chr4:122871200-122872800	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
30	chr4:122871200-122872800	Active TSS	Right Atrium	heart
31	chr4:122871200-122873000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr4:122871200-122873000	Bivalent/Poised TSS	A549	lung
33	chr4:122871200-122873200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr4:122871200-122873200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr4:122871200-122873200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr4:122871200-122873200	Active TSS	Brain Angular Gyrus	brain
37	chr4:122871200-122873200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
38	chr4:122871200-122873400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr4:122871200-122873400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr4:122871200-122873400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr4:122871200-122873400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr4:122871200-122873400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr4:122871200-122873400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr4:122871200-122873400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr4:122871200-122873400	Active TSS	Colon Smooth Muscle	Colon
46	chr4:122871200-122873400	Active TSS	HSMM	muscle
47	chr4:122871200-122873600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
48	chr4:122871200-122873600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr4:122871200-122873600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr4:122871200-122873600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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