Variant report

Variant	rs12639719
Chromosome Location	chr4:121818040-121818041
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10518380	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11943025	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12499872	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12501914	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12503895	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12510578	1.00[ASN][1000 genomes]
rs12511422	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12639772	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12640648	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12644883	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12648660	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1450461	0.81[ASN][1000 genomes]
rs1470695	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1588524	0.81[ASN][1000 genomes]
rs1597491	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs168226	0.81[ASN][1000 genomes]
rs17051271	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17051275	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs171068	0.81[ASN][1000 genomes]
rs1809075	0.81[ASN][1000 genomes]
rs2167208	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2667171	0.81[ASN][1000 genomes]
rs343185	0.81[ASN][1000 genomes]
rs343189	0.81[ASN][1000 genomes]
rs3806807	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4833688	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4833689	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57023921	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72680418	0.81[ASN][1000 genomes]
rs72680432	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72680433	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72680438	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72680440	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72680445	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72680451	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72680462	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72680468	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72680474	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72680476	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72680477	1.00[ASN][1000 genomes]
rs72680480	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72680484	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72680490	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72680497	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72680498	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs896060	0.81[ASN][1000 genomes]
rs994831	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121796400-121824400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr4:121797000-121823800	Weak transcription	Osteobl	bone
3	chr4:121798200-121842400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:121802200-121826600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:121803400-121822600	Weak transcription	Aorta	Aorta
6	chr4:121803400-121827400	Weak transcription	NHDF-Ad	bronchial
7	chr4:121804200-121822400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr4:121804800-121830200	Weak transcription	Fetal Heart	heart
9	chr4:121811200-121824600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr4:121812000-121831000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr4:121812000-121839400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr4:121812400-121836600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr4:121812800-121823000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr4:121812800-121824400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr4:121812800-121839800	Weak transcription	Psoas Muscle	Psoas
16	chr4:121813000-121824600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr4:121813000-121837400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr4:121813200-121824000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr4:121813400-121839400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr4:121813400-121841600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr4:121813600-121824000	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr4:121813600-121839800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr4:121813800-121842400	Weak transcription	NHEK	skin
24	chr4:121814200-121839800	Weak transcription	Pancreas	Pancrea
25	chr4:121814400-121823200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:121814400-121824000	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr4:121814600-121820000	Weak transcription	Fetal Stomach	stomach
28	chr4:121814600-121820200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr4:121814600-121820200	Weak transcription	Fetal Muscle Leg	muscle
30	chr4:121814600-121820400	Weak transcription	Fetal Muscle Trunk	muscle
31	chr4:121814600-121822600	Weak transcription	Fetal Intestine Large	intestine
32	chr4:121814600-121822800	Weak transcription	Fetal Intestine Small	intestine
33	chr4:121814600-121823600	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr4:121814600-121823800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr4:121814600-121823800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr4:121814600-121824000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr4:121814600-121824200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr4:121814600-121824600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr4:121814600-121824600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr4:121814600-121828600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr4:121814600-121829000	Weak transcription	Ovary	ovary
42	chr4:121814600-121830400	Weak transcription	Lung	lung
43	chr4:121814600-121836600	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr4:121814600-121840000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr4:121814600-121842600	Weak transcription	Right Ventricle	heart
46	chr4:121814800-121824000	Weak transcription	Fetal Lung	lung
47	chr4:121814800-121828200	Weak transcription	Colon Smooth Muscle	Colon
48	chr4:121815000-121819800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr4:121815200-121839800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr4:121815600-121822400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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