Variant report

Variant	rs7661193
Chromosome Location	chr4:121669224-121669225
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs13111620	1.00[CHB][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap]
rs13142907	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13147610	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17414992	0.80[EUR][1000 genomes]
rs343199	1.00[CHB][hapmap]
rs35774122	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62325578	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6824362	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7681598	0.80[CEU][hapmap]
rs843576	1.00[JPT][hapmap]
rs907296	0.82[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:31 , 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	chr4:121641200-121670400	Weak transcription	Fetal Muscle Leg	muscle
4	chr4:121641400-121669600	Weak transcription	Fetal Intestine Small	intestine
5	chr4:121642800-121670600	Weak transcription	Fetal Stomach	stomach
6	chr4:121647200-121671400	Weak transcription	Fetal Lung	lung
7	chr4:121647400-121670600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr4:121648200-121671600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:121648200-121671600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr4:121648400-121670600	Weak transcription	Adipose Nuclei	Adipose
11	chr4:121649600-121670800	Weak transcription	Fetal Intestine Large	intestine
12	chr4:121652000-121673600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr4:121652400-121670800	Weak transcription	Right Ventricle	heart
14	chr4:121652600-121687000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:121653200-121671600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr4:121653200-121672200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr4:121656000-121670600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr4:121658800-121670600	Weak transcription	Aorta	Aorta
19	chr4:121658800-121671400	Weak transcription	Left Ventricle	heart
20	chr4:121659000-121669600	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr4:121661600-121670800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr4:121662400-121673200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr4:121663000-121670800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr4:121663000-121672000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr4:121664000-121671600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr4:121665800-121671600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr4:121668200-121671000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr4:121668400-121690400	Weak transcription	Osteobl	bone
29	chr4:121668600-121673600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
30	chr4:121668800-121669400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr4:121669200-121672200	Strong transcription	Fetal Muscle Trunk	muscle

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