Variant report

Variant	rs4698139
Chromosome Location	chr4:16254973-16254974
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10002625	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10939659	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10939661	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11946067	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13102329	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13110673	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13111956	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13120292	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13121695	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13131868	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13132621	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16893287	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34019415	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34274223	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34880816	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35281534	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35892656	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs36104258	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4698140	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4698142	0.83[EUR][1000 genomes]
rs4698468	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7688779	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9994269	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004821	chr4:16055996-16830629	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv537046	chr4:16055996-16830629	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv537047	chr4:16182060-16375787	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv537048	chr4:16226406-16375787	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:16229800-16259800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr4:16234000-16255000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr4:16234200-16257400	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr4:16234200-16264800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr4:16234400-16261600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr4:16235400-16272800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr4:16235600-16261600	Weak transcription	Fetal Kidney	kidney
8	chr4:16236200-16257400	Weak transcription	Left Ventricle	heart
9	chr4:16237200-16257400	Weak transcription	Brain Hippocampus Middle	brain
10	chr4:16238200-16258800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr4:16238200-16266000	Weak transcription	Fetal Brain Male	brain
12	chr4:16238400-16258400	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr4:16240000-16259800	Weak transcription	Fetal Lung	lung
14	chr4:16240400-16263400	Weak transcription	Fetal Thymus	thymus
15	chr4:16242200-16257600	Weak transcription	Gastric	stomach
16	chr4:16242200-16267800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr4:16243000-16258000	Weak transcription	Esophagus	oesophagus
18	chr4:16243400-16255200	Weak transcription	Small Intestine	intestine
19	chr4:16243400-16259200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr4:16244000-16265000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr4:16244200-16258200	Weak transcription	Stomach Smooth Muscle	stomach
22	chr4:16245000-16261200	Weak transcription	Spleen	Spleen
23	chr4:16245600-16266000	Weak transcription	Brain Angular Gyrus	brain
24	chr4:16246000-16255200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr4:16246000-16261400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr4:16246400-16258000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr4:16246400-16259200	Weak transcription	Thymus	Thymus
28	chr4:16246600-16257200	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr4:16248200-16258000	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr4:16248200-16258000	Weak transcription	Aorta	Aorta
31	chr4:16249400-16257200	Weak transcription	Fetal Stomach	stomach
32	chr4:16249600-16257400	Weak transcription	Adipose Nuclei	Adipose
33	chr4:16249600-16261200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr4:16250200-16255800	Enhancers	HepG2	liver
35	chr4:16251000-16259200	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr4:16251000-16260000	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr4:16251400-16255400	Strong transcription	Primary B cells from peripheral blood	blood
38	chr4:16251800-16264400	Weak transcription	Fetal Brain Female	brain
39	chr4:16252000-16256400	Strong transcription	Primary hematopoietic stem cells	blood
40	chr4:16252000-16260400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr4:16252800-16258000	Weak transcription	Fetal Intestine Small	intestine
42	chr4:16252800-16259600	Weak transcription	Duodenum Mucosa	Duodenum
43	chr4:16252800-16266600	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr4:16252800-16267400	Weak transcription	Pancreas	Pancrea
45	chr4:16253000-16258000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr4:16253200-16258000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr4:16253600-16255000	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr4:16253600-16255400	Strong transcription	Primary T cells from cord blood	blood
49	chr4:16253600-16256200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr4:16253600-16259600	Strong transcription	Primary B cells from cord blood	blood

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