Variant report

Variant	rs1987468
Chromosome Location	chr4:121723717-121723718
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10026047	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10033707	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10857072	0.91[EUR][1000 genomes]
rs11098589	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1349347	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1376099	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1397770	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1450462	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17051263	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1868715	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1877214	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1877215	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1912720	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2100237	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2136997	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs237212	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2597536	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2597537	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2597538	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2597540	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2667172	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2667173	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28831670	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs343181	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs343184	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs343187	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs343190	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs343192	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3789141	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3789142	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3804174	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4833183	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4833184	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4833675	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4833676	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4833677	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4833679	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4833681	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57841364	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59085467	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59837089	0.84[EUR][1000 genomes]
rs6835471	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879852	chr4:121108734-121768496	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv998094	chr4:121504565-122374203	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv916737	chr4:121589793-121748847	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv461634	chr4:121623057-121765527	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv595334	chr4:121623057-121765527	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1013704	chr4:121657648-121791601	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
7	nsv879855	chr4:121691899-121747335	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
8	nsv879856	chr4:121697932-121737767	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
9	nsv879857	chr4:121697932-121747335	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
10	nsv879858	chr4:121703336-121747335	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121671800-121728600	Weak transcription	Left Ventricle	heart
2	chr4:121672400-121728800	Weak transcription	Aorta	Aorta
3	chr4:121672400-121728800	Weak transcription	Fetal Stomach	stomach
4	chr4:121673000-121737400	Weak transcription	Fetal Muscle Trunk	muscle
5	chr4:121690600-121728800	Weak transcription	Fetal Intestine Small	intestine
6	chr4:121695800-121730000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr4:121699200-121728200	Weak transcription	Fetal Lung	lung
8	chr4:121704400-121724600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr4:121706400-121728800	Weak transcription	Pancreas	Pancrea
10	chr4:121707200-121730600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr4:121710200-121729600	Weak transcription	Esophagus	oesophagus
12	chr4:121712400-121728600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:121714800-121728600	Weak transcription	Fetal Intestine Large	intestine
14	chr4:121715400-121728200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr4:121715400-121729600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr4:121718600-121730800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr4:121720000-121728600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr4:121720600-121731400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr4:121721000-121728600	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr4:121721400-121728800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr4:121722800-121728400	Weak transcription	Stomach Smooth Muscle	stomach
22	chr4:121722800-121728600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr4:121722800-121728600	Weak transcription	Ovary	ovary
24	chr4:121722800-121728800	Weak transcription	Fetal Muscle Leg	muscle
25	chr4:121722800-121729000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr4:121722800-121729800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr4:121722800-121730400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr4:121722800-121733000	Weak transcription	Rectal Smooth Muscle	rectum
29	chr4:121722800-121737600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr4:121723000-121728200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr4:121723000-121728400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr4:121723000-121728400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr4:121723000-121728400	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr4:121723000-121728400	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr4:121723000-121728600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr4:121723000-121729600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr4:121723000-121729800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr4:121723000-121730000	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr4:121723000-121730600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr4:121723000-121730600	Weak transcription	NHDF-Ad	bronchial
41	chr4:121723000-121738000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr4:121723400-121723800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr4:121723600-121743000	Weak transcription	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links