Variant report

Variant	rs2134707
Chromosome Location	chr4:148719459-148719460
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10001327	0.97[ASN][1000 genomes]
rs10519917	0.83[ASN][1000 genomes]
rs1119887	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs11935450	0.83[ASN][1000 genomes]
rs11935510	0.83[ASN][1000 genomes]
rs11935620	0.83[ASN][1000 genomes]
rs11940379	0.83[ASN][1000 genomes]
rs17023844	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs17023845	0.89[ASN][1000 genomes]
rs17023846	0.90[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs17023870	0.83[ASN][1000 genomes]
rs55714518	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs58068435	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs58274809	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs58762227	0.80[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs59535925	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs60042554	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[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	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv880242	chr4:148659137-148727355	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148708400-148721200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:148709000-148721200	Weak transcription	Lung	lung
3	chr4:148709000-148721400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr4:148709000-148721400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:148709000-148721400	Weak transcription	Esophagus	oesophagus
6	chr4:148710400-148729600	Weak transcription	HSMM	muscle
7	chr4:148711000-148720200	Weak transcription	Fetal Stomach	stomach
8	chr4:148711000-148729200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr4:148711600-148721200	Weak transcription	Pancreas	Pancrea
10	chr4:148713000-148721400	Weak transcription	Fetal Muscle Trunk	muscle
11	chr4:148713800-148720400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr4:148714200-148720200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr4:148715000-148721000	Weak transcription	Right Atrium	heart
14	chr4:148715200-148720000	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr4:148715200-148720200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr4:148715200-148721400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr4:148715200-148735200	Weak transcription	Stomach Mucosa	stomach
18	chr4:148715400-148719600	Weak transcription	Left Ventricle	heart
19	chr4:148715400-148719600	Weak transcription	Right Ventricle	heart
20	chr4:148715400-148720200	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr4:148715400-148720200	Weak transcription	Stomach Smooth Muscle	stomach
22	chr4:148715400-148720400	Weak transcription	Fetal Muscle Leg	muscle
23	chr4:148715400-148721200	Weak transcription	Gastric	stomach
24	chr4:148715400-148721200	Weak transcription	Ovary	ovary
25	chr4:148715400-148722800	Weak transcription	Fetal Heart	heart
26	chr4:148715600-148720000	Weak transcription	Colon Smooth Muscle	Colon
27	chr4:148715600-148720200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr4:148715800-148720000	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr4:148716000-148720000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr4:148716000-148720200	Weak transcription	Duodenum Mucosa	Duodenum
31	chr4:148716000-148722800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr4:148716000-148734800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr4:148716200-148720200	Weak transcription	Adipose Nuclei	Adipose
34	chr4:148716400-148720200	Weak transcription	Primary T cells from cord blood	blood
35	chr4:148716400-148720400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr4:148716400-148720600	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr4:148716400-148720600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr4:148716400-148720600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr4:148716400-148720800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr4:148716400-148720800	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr4:148716400-148721200	Weak transcription	Small Intestine	intestine
42	chr4:148716600-148720000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr4:148716600-148720200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr4:148716600-148720400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr4:148716600-148720400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr4:148716600-148720400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr4:148716600-148732800	Weak transcription	Fetal Intestine Small	intestine
48	chr4:148716800-148720000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr4:148716800-148720200	Weak transcription	Primary hematopoietic stem cells	blood
50	chr4:148716800-148720200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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