Variant report

Variant	rs73845482
Chromosome Location	chr4:121670701-121670702
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10003374	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10005334	0.89[ASN][1000 genomes]
rs10023476	0.89[ASN][1000 genomes]
rs10023764	0.89[ASN][1000 genomes]
rs10026006	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10049714	0.89[ASN][1000 genomes]
rs11933936	0.87[EUR][1000 genomes]
rs11941156	0.87[EUR][1000 genomes]
rs1496275	0.89[ASN][1000 genomes]
rs1511310	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1588522	0.87[EUR][1000 genomes]
rs17051233	0.89[ASN][1000 genomes]
rs17051242	0.96[EUR][1000 genomes]
rs17051245	0.87[EUR][1000 genomes]
rs17051249	1.00[ASN][1000 genomes]
rs17051257	1.00[ASN][1000 genomes]
rs17051264	1.00[ASN][1000 genomes]
rs28362092	0.87[EUR][1000 genomes]
rs28384319	0.89[ASN][1000 genomes]
rs28532205	0.89[ASN][1000 genomes]
rs28564955	0.89[ASN][1000 genomes]
rs28611362	0.89[ASN][1000 genomes]
rs28752050	0.89[ASN][1000 genomes]
rs28846396	0.87[EUR][1000 genomes]
rs56998648	1.00[ASN][1000 genomes]
rs57391956	1.00[ASN][1000 genomes]
rs57504308	1.00[ASN][1000 genomes]
rs58312461	1.00[ASN][1000 genomes]
rs58663639	1.00[ASN][1000 genomes]
rs58779616	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59281550	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59315146	0.89[ASN][1000 genomes]
rs59788809	1.00[ASN][1000 genomes]
rs60012498	1.00[ASN][1000 genomes]
rs60371752	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs60937110	1.00[ASN][1000 genomes]
rs61055437	1.00[ASN][1000 genomes]
rs6814313	1.00[ASN][1000 genomes]
rs6818794	0.87[EUR][1000 genomes]
rs6826221	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6826227	0.87[EUR][1000 genomes]
rs73845483	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73845486	0.96[EUR][1000 genomes]
rs7681445	1.00[ASN][1000 genomes]
rs9992625	0.87[EUR][1000 genomes]
rs9996180	0.87[EUR][1000 genomes]
rs9998810	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv1004485	chr4:121542992-121716769	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121620800-121671400	Weak transcription	Pancreas	Pancrea
2	chr4:121630000-121671400	Weak transcription	Ovary	ovary
3	chr4:121647200-121671400	Weak transcription	Fetal Lung	lung
4	chr4:121648200-121671600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:121648200-121671600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr4:121649600-121670800	Weak transcription	Fetal Intestine Large	intestine
7	chr4:121652000-121673600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr4:121652400-121670800	Weak transcription	Right Ventricle	heart
9	chr4:121652600-121687000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:121653200-121671600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr4:121653200-121672200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr4:121658800-121671400	Weak transcription	Left Ventricle	heart
13	chr4:121661600-121670800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr4:121662400-121673200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr4:121663000-121670800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr4:121663000-121672000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr4:121664000-121671600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr4:121665800-121671600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:121668200-121671000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr4:121668400-121690400	Weak transcription	Osteobl	bone
21	chr4:121668600-121673600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
22	chr4:121669200-121672200	Strong transcription	Fetal Muscle Trunk	muscle
23	chr4:121669400-121672800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr4:121669600-121670800	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr4:121669600-121670800	Enhancers	Fetal Thymus	thymus
26	chr4:121669600-121671000	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr4:121669600-121671200	Strong transcription	Fetal Intestine Small	intestine
28	chr4:121670000-121671800	Enhancers	GM12878-XiMat	blood
29	chr4:121670000-121675000	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr4:121670200-121671200	Enhancers	Primary T cells from cord blood	blood
31	chr4:121670400-121672400	ZNF genes & repeats	Lung	lung
32	chr4:121670400-121673000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr4:121670400-121673000	ZNF genes & repeats	Fetal Muscle Leg	muscle
34	chr4:121670600-121671000	Enhancers	Primary T cells fromperipheralblood	blood
35	chr4:121670600-121671000	ZNF genes & repeats	Adipose Nuclei	Adipose
36	chr4:121670600-121671400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr4:121670600-121672400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr4:121670600-121672400	ZNF genes & repeats	Aorta	Aorta
39	chr4:121670600-121672400	ZNF genes & repeats	Fetal Stomach	stomach
40	chr4:121670600-121673000	Strong transcription	Stomach Smooth Muscle	stomach
41	chr4:121670600-121673800	Weak transcription	Colon Smooth Muscle	Colon

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