Variant report

Variant	rs10030513
Chromosome Location	chr4:148769873-148769874
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:148768907..148770611-chr4:148774533..148777296,2	MCF-7	breast:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10004850	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10007231	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10018820	0.93[ASN][1000 genomes]
rs10018903	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10021936	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10022691	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10023057	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10025684	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10029385	0.88[ASN][1000 genomes]
rs1013842	0.99[EUR][1000 genomes]
rs10461235	0.83[EUR][1000 genomes]
rs11099670	0.99[EUR][1000 genomes]
rs11733409	0.97[EUR][1000 genomes]
rs12498257	0.96[EUR][1000 genomes]
rs12511313	0.99[EUR][1000 genomes]
rs12641291	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12647314	0.96[ASN][1000 genomes]
rs13116821	0.90[ASN][1000 genomes]
rs13129747	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13148956	0.97[EUR][1000 genomes]
rs13434396	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1347596	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1436489	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1436490	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1469865	0.99[EUR][1000 genomes]
rs1469867	0.97[EUR][1000 genomes]
rs17023919	0.96[ASN][1000 genomes]
rs17023928	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs17023995	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28662484	0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35115631	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4240338	0.81[ASN][1000 genomes]
rs4240339	0.88[ASN][1000 genomes]
rs4419463	0.81[ASN][1000 genomes]
rs4835101	0.97[EUR][1000 genomes]
rs4835461	0.88[EUR][1000 genomes]
rs4835463	0.99[EUR][1000 genomes]
rs4835464	0.86[EUR][1000 genomes]
rs6535565	0.99[EUR][1000 genomes]
rs66488204	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6839440	0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6846526	0.97[EUR][1000 genomes]
rs6846899	0.89[EUR][1000 genomes]
rs6853296	0.95[EUR][1000 genomes]
rs71616571	0.96[EUR][1000 genomes]
rs7654433	0.97[EUR][1000 genomes]
rs7655236	0.82[ASN][1000 genomes]
rs7664567	0.97[EUR][1000 genomes]
rs7666127	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs893024	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9995896	0.95[ASN][1000 genomes]
rs9996108	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9996209	0.91[ASN][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	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv880243	chr4:148735644-148879583	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv880244	chr4:148764252-148920089	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1029845	chr4:148766290-148916437	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148737800-148782200	Weak transcription	Thymus	Thymus
2	chr4:148743200-148782200	Weak transcription	Fetal Intestine Large	intestine
3	chr4:148751400-148776000	Weak transcription	Fetal Stomach	stomach
4	chr4:148753400-148782000	Weak transcription	Gastric	stomach
5	chr4:148755600-148773200	Weak transcription	Esophagus	oesophagus
6	chr4:148756800-148777800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr4:148762400-148770000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr4:148762400-148771000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr4:148762800-148775400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr4:148763200-148771000	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr4:148763200-148796200	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr4:148763800-148776000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr4:148764400-148770600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr4:148764400-148786000	Weak transcription	NH-A	brain
15	chr4:148764400-148787000	Weak transcription	NHEK	skin
16	chr4:148764600-148771200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr4:148764600-148771200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr4:148764600-148771400	Weak transcription	Aorta	Aorta
19	chr4:148764600-148772400	Weak transcription	Brain Angular Gyrus	brain
20	chr4:148764600-148775800	Weak transcription	HSMMtube	muscle
21	chr4:148764600-148776200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr4:148764600-148787800	Weak transcription	HMEC	breast
23	chr4:148765000-148771400	Weak transcription	Fetal Muscle Trunk	muscle
24	chr4:148766000-148770200	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr4:148766200-148782000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr4:148766400-148787600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr4:148766600-148771400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr4:148766600-148796200	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr4:148766800-148770000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr4:148767200-148773200	Strong transcription	HSMM	muscle
31	chr4:148767600-148770200	Enhancers	Fetal Lung	lung
32	chr4:148767600-148796400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr4:148767800-148770400	Enhancers	Fetal Kidney	kidney
34	chr4:148767800-148770800	Weak transcription	Fetal Thymus	thymus
35	chr4:148767800-148774400	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr4:148768000-148770000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr4:148768000-148772200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr4:148768200-148770200	Enhancers	Adipose Nuclei	Adipose
39	chr4:148768200-148782400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr4:148768400-148781000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr4:148768400-148815600	Weak transcription	Primary T cells from cord blood	blood
42	chr4:148768600-148771400	Weak transcription	Fetal Intestine Small	intestine
43	chr4:148768600-148775400	Weak transcription	HUVEC	blood vessel
44	chr4:148768800-148770200	Enhancers	Osteobl	bone
45	chr4:148769000-148770000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr4:148769000-148770200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr4:148769000-148770400	Enhancers	NHLF	lung
48	chr4:148769000-148771000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr4:148769000-148771400	Weak transcription	Left Ventricle	heart
50	chr4:148769000-148774200	Weak transcription	NHDF-Ad	bronchial

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links