Variant report

Variant	rs13121176
Chromosome Location	chr4:57838256-57838257
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:57832993..57836325-chr4:57837117..57839570,3	K562	blood:
2	chr4:57832384..57834493-chr4:57837035..57839570,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1107675	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11729152	0.85[ASN][1000 genomes]
rs11736808	0.81[ASN][1000 genomes]
rs11932673	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1277271	0.89[ASN][1000 genomes]
rs1277287	0.80[ASN][1000 genomes]
rs1277288	0.80[ASN][1000 genomes]
rs13131605	0.80[ASN][1000 genomes]
rs1315005	0.80[ASN][1000 genomes]
rs1625691	0.80[ASN][1000 genomes]
rs17081937	0.85[ASN][1000 genomes]
rs17087307	0.94[ASN][1000 genomes]
rs17087317	0.94[ASN][1000 genomes]
rs1718839	0.88[ASN][1000 genomes]
rs1976780	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2014870	0.80[ASN][1000 genomes]
rs2228991	0.85[ASN][1000 genomes]
rs34576794	0.87[ASN][1000 genomes]
rs34659774	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3733306	0.91[ASN][1000 genomes]
rs3796528	0.85[ASN][1000 genomes]
rs6554399	0.85[ASN][1000 genomes]
rs6816457	0.89[ASN][1000 genomes]
rs73242616	0.86[ASN][1000 genomes]
rs7685576	0.86[ASN][1000 genomes]
rs781665	0.88[ASN][1000 genomes]
rs781666	0.88[ASN][1000 genomes]
rs781668	0.88[ASN][1000 genomes]
rs9942208	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[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	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
2	nsv1012287	chr4:57652778-57853485	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv1012125	chr4:57668229-57865803	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57793600-57842000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:57793600-57842000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:57824600-57838400	Weak transcription	Aorta	Aorta
4	chr4:57825600-57838600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr4:57826400-57839800	Strong transcription	Primary T cells from cord blood	blood
6	chr4:57826600-57838600	Strong transcription	Fetal Intestine Small	intestine
7	chr4:57826600-57838800	Strong transcription	Liver	Liver
8	chr4:57826600-57839000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:57826600-57839200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:57826600-57840800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr4:57826600-57840800	Strong transcription	Fetal Brain Female	brain
12	chr4:57826600-57840800	Strong transcription	Fetal Muscle Leg	muscle
13	chr4:57826600-57840800	Strong transcription	Fetal Thymus	thymus
14	chr4:57826600-57841000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr4:57826600-57841400	Strong transcription	Fetal Intestine Large	intestine
16	chr4:57826800-57839000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr4:57826800-57840800	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr4:57826800-57840800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr4:57826800-57840800	Weak transcription	Stomach Mucosa	stomach
20	chr4:57827000-57838400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr4:57827000-57840400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr4:57827000-57843200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr4:57827200-57838400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr4:57827200-57838800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr4:57827200-57839000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr4:57827200-57840200	Strong transcription	H1 Cell Line	embryonic stem cell
27	chr4:57827200-57840400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr4:57827200-57840400	Strong transcription	Primary B cells from peripheral blood	blood
29	chr4:57827200-57840600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr4:57827200-57840800	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr4:57827200-57840800	Strong transcription	Dnd41	blood
32	chr4:57827200-57841000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr4:57827200-57841000	Strong transcription	Fetal Lung	lung
34	chr4:57827200-57841400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr4:57827400-57838400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr4:57827400-57838800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr4:57827400-57838800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr4:57827400-57839600	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr4:57827400-57839600	Strong transcription	Placenta	Placenta
40	chr4:57827400-57841000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr4:57827600-57840200	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr4:57827600-57840600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr4:57827800-57839200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr4:57827800-57839200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr4:57828000-57840400	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr4:57828000-57840600	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr4:57828200-57838800	Strong transcription	Adipose Nuclei	Adipose
48	chr4:57828200-57838800	Strong transcription	Duodenum Mucosa	Duodenum
49	chr4:57828200-57838800	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr4:57828200-57840200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood

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