Variant report

Variant	rs72680484
Chromosome Location	chr4:121826085-121826086
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10518380	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11943025	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12499872	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12501914	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12503895	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12510578	0.97[ASN][1000 genomes]
rs12511422	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12639719	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12639772	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12640648	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12644883	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12648660	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1470695	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1597491	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17051271	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17051275	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2167208	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3806807	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4833688	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4833689	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57023921	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72680432	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72680433	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72680438	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72680440	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72680445	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72680451	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72680462	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72680468	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72680474	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72680476	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72680477	0.97[ASN][1000 genomes]
rs72680480	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72680490	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72680497	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72680498	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs994831	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[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:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121798200-121842400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:121802200-121826600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:121803400-121827400	Weak transcription	NHDF-Ad	bronchial
4	chr4:121804800-121830200	Weak transcription	Fetal Heart	heart
5	chr4:121812000-121831000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr4:121812000-121839400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr4:121812400-121836600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr4:121812800-121839800	Weak transcription	Psoas Muscle	Psoas
9	chr4:121813000-121837400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr4:121813400-121839400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr4:121813400-121841600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr4:121813600-121839800	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr4:121813800-121842400	Weak transcription	NHEK	skin
14	chr4:121814200-121839800	Weak transcription	Pancreas	Pancrea
15	chr4:121814600-121828600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr4:121814600-121829000	Weak transcription	Ovary	ovary
17	chr4:121814600-121830400	Weak transcription	Lung	lung
18	chr4:121814600-121836600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr4:121814600-121840000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr4:121814600-121842600	Weak transcription	Right Ventricle	heart
21	chr4:121814800-121828200	Weak transcription	Colon Smooth Muscle	Colon
22	chr4:121815200-121839800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr4:121818000-121826600	Weak transcription	Left Ventricle	heart
24	chr4:121818000-121842400	Weak transcription	NH-A	brain
25	chr4:121820400-121826400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr4:121821000-121829200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr4:121821000-121839800	Weak transcription	Fetal Muscle Leg	muscle
28	chr4:121821200-121840000	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr4:121821400-121839800	Weak transcription	Fetal Stomach	stomach
30	chr4:121822400-121828000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr4:121823200-121826600	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr4:121823400-121837800	Weak transcription	Fetal Kidney	kidney
33	chr4:121823600-121826800	Weak transcription	Fetal Brain Male	brain
34	chr4:121823600-121827800	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr4:121823600-121827800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr4:121823600-121836400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr4:121823800-121827800	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr4:121823800-121842400	Weak transcription	HSMM	muscle
39	chr4:121824000-121828000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr4:121824000-121828000	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr4:121824400-121827800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr4:121824800-121834200	Weak transcription	Fetal Lung	lung
43	chr4:121824800-121840400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr4:121825000-121830000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr4:121825000-121832800	Weak transcription	Stomach Smooth Muscle	stomach
46	chr4:121825000-121836800	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr4:121825000-121839800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr4:121825000-121839800	Weak transcription	Osteobl	bone
49	chr4:121825000-121842600	Weak transcription	Fetal Muscle Trunk	muscle
50	chr4:121825200-121827000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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