Variant report

Variant	rs10027904
Chromosome Location	chr4:121727313-121727314
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10021556	0.85[ASN][1000 genomes]
rs10022309	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10022314	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10025630	0.82[ASN][1000 genomes]
rs10033410	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1074134	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11098741	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11098742	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1115519	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11736348	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11936123	0.91[ASN][1000 genomes]
rs12502224	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12506212	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12510204	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12510243	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12511890	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12513177	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12639996	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12640638	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13111877	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13118924	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13128134	0.82[ASN][1000 genomes]
rs1371996	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1440860	0.92[ASN][1000 genomes]
rs1440861	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1440862	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1440863	0.90[ASN][1000 genomes]
rs1440865	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1440866	0.82[ASN][1000 genomes]
rs1561638	0.90[ASN][1000 genomes]
rs1561639	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1561640	0.90[ASN][1000 genomes]
rs1595966	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1899232	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1971838	0.87[ASN][1000 genomes]
rs1992367	0.84[ASN][1000 genomes]
rs2119419	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2119420	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2119421	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4975052	0.91[ASN][1000 genomes]
rs4975053	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4975054	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4975055	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs723243	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs723245	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7655446	0.90[ASN][1000 genomes]
rs7663844	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7670107	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7684683	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7690520	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7691021	0.90[ASN][1000 genomes]
rs7691868	0.85[ASN][1000 genomes]
rs7691918	0.85[ASN][1000 genomes]
rs7697359	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs880988	0.85[ASN][1000 genomes]
rs9307532	0.92[ASN][1000 genomes]
rs998437	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9993773	0.95[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:45 , 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	chr4:121706400-121728800	Weak transcription	Pancreas	Pancrea
9	chr4:121707200-121730600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr4:121710200-121729600	Weak transcription	Esophagus	oesophagus
11	chr4:121712400-121728600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:121714800-121728600	Weak transcription	Fetal Intestine Large	intestine
13	chr4:121715400-121728200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr4:121715400-121729600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr4:121718600-121730800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr4:121720000-121728600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:121720600-121731400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr4:121721000-121728600	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr4:121721400-121728800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr4:121722800-121728400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr4:121722800-121728600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr4:121722800-121728600	Weak transcription	Ovary	ovary
23	chr4:121722800-121728800	Weak transcription	Fetal Muscle Leg	muscle
24	chr4:121722800-121729000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr4:121722800-121729800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr4:121722800-121730400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr4:121722800-121733000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr4:121722800-121737600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr4:121723000-121728200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr4:121723000-121728400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr4:121723000-121728400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr4:121723000-121728400	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr4:121723000-121728400	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr4:121723000-121728600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr4:121723000-121729600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr4:121723000-121729800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr4:121723000-121730000	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr4:121723000-121730600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr4:121723000-121730600	Weak transcription	NHDF-Ad	bronchial
40	chr4:121723000-121738000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr4:121723600-121743000	Weak transcription	Fetal Heart	heart
42	chr4:121723800-121729600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr4:121726400-121743400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr4:121727200-121728800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr4:121727200-121739000	Weak transcription	Gastric	stomach

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