Variant report

Variant	rs1396081
Chromosome Location	chr4:122871465-122871466
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs4833780	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6831513	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6846974	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs970349	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:115 , 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	chr4:122871000-122871600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
5	chr4:122871000-122872600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr4:122871000-122873000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr4:122871000-122873400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
8	chr4:122871000-122873600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr4:122871000-122873600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
10	chr4:122871000-122873600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
11	chr4:122871000-122873600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
12	chr4:122871200-122871600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr4:122871200-122871600	Bivalent/Poised TSS	Primary B cells from cord blood	blood
14	chr4:122871200-122871600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
15	chr4:122871200-122871600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
16	chr4:122871200-122871600	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
17	chr4:122871200-122871600	Bivalent Enhancer	Liver	Liver
18	chr4:122871200-122871600	Active TSS	Fetal Brain Female	brain
19	chr4:122871200-122871600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
20	chr4:122871200-122871600	Bivalent Enhancer	Placenta	Placenta
21	chr4:122871200-122871600	Bivalent Enhancer	Fetal Thymus	thymus
22	chr4:122871200-122871600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
23	chr4:122871200-122871600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
24	chr4:122871200-122871600	Active TSS	NH-A	brain
25	chr4:122871200-122871600	Bivalent/Poised TSS	NHEK	skin
26	chr4:122871200-122871800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr4:122871200-122871800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr4:122871200-122872000	Active TSS	Muscle Satellite Cultured Cells	--
29	chr4:122871200-122872000	Active TSS	Brain Hippocampus Middle	brain
30	chr4:122871200-122872000	Enhancers	Pancreas	Pancrea
31	chr4:122871200-122872000	Bivalent Enhancer	Stomach Mucosa	stomach
32	chr4:122871200-122872200	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr4:122871200-122872200	Active TSS	Brain Cingulate Gyrus	brain
34	chr4:122871200-122872200	Bivalent Enhancer	Fetal Brain Male	brain
35	chr4:122871200-122872200	Active TSS	Right Ventricle	heart
36	chr4:122871200-122872200	Active TSS	Stomach Smooth Muscle	stomach
37	chr4:122871200-122872400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
38	chr4:122871200-122872400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
39	chr4:122871200-122872400	Flanking Bivalent TSS/Enh	HepG2	liver
40	chr4:122871200-122872600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
41	chr4:122871200-122872600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
42	chr4:122871200-122872600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr4:122871200-122872600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
44	chr4:122871200-122872800	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
45	chr4:122871200-122872800	Active TSS	Right Atrium	heart
46	chr4:122871200-122873000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr4:122871200-122873000	Bivalent/Poised TSS	A549	lung
48	chr4:122871200-122873200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr4:122871200-122873200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr4:122871200-122873200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin

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