Variant report

Variant	rs72921590
Chromosome Location	chr4:121763070-121763071
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10518379	0.80[AFR][1000 genomes]
rs72921573	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
4	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
5	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

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121729600-121770400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr4:121743800-121765400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:121750400-121768400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr4:121755800-121774600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr4:121756600-121763600	Weak transcription	Esophagus	oesophagus
6	chr4:121756800-121779800	Weak transcription	Aorta	Aorta
7	chr4:121758200-121765000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:121758200-121770400	Weak transcription	HSMM	muscle
9	chr4:121758200-121774600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr4:121759600-121775400	Weak transcription	Gastric	stomach
11	chr4:121760000-121765400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr4:121760400-121775800	Weak transcription	Lung	lung
13	chr4:121760600-121765000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr4:121760600-121765600	Weak transcription	Ovary	ovary
15	chr4:121761200-121778200	Weak transcription	Fetal Muscle Leg	muscle
16	chr4:121761200-121783600	Weak transcription	Pancreas	Pancrea
17	chr4:121761400-121765000	Weak transcription	Fetal Intestine Large	intestine
18	chr4:121761400-121774600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr4:121761400-121777600	Weak transcription	Left Ventricle	heart
20	chr4:121761600-121763200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr4:121761600-121767400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr4:121761800-121763400	Weak transcription	Right Ventricle	heart
23	chr4:121761800-121763800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr4:121762000-121763400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr4:121762000-121765400	Weak transcription	Fetal Intestine Small	intestine
26	chr4:121762200-121763600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr4:121762200-121763600	Enhancers	Fetal Lung	lung
28	chr4:121762200-121764200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr4:121762200-121764200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr4:121762200-121764200	Enhancers	NHDF-Ad	bronchial
31	chr4:121762400-121763800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr4:121762400-121763800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr4:121762400-121763800	Enhancers	Muscle Satellite Cultured Cells	--
34	chr4:121762400-121763800	Enhancers	Fetal Heart	heart
35	chr4:121762600-121763200	Enhancers	Osteobl	bone
36	chr4:121762600-121763400	Enhancers	Primary T cells from cord blood	blood
37	chr4:121762600-121763600	Enhancers	NH-A	brain
38	chr4:121762800-121763600	Enhancers	Fetal Stomach	stomach
39	chr4:121762800-121763600	Enhancers	Rectal Smooth Muscle	rectum
40	chr4:121762800-121763600	Enhancers	NHLF	lung
41	chr4:121762800-121764000	Weak transcription	Fetal Muscle Trunk	muscle
42	chr4:121763000-121763200	Enhancers	Pancreatic Islets	Pancreatic Islet
43	chr4:121763000-121764000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr4:121763000-121764200	Enhancers	Colon Smooth Muscle	Colon

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