Variant report

Variant	rs60154123
Chromosome Location	chr1:210468999-210469000
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:210428073..210429613-chr1:210467774..210469897,2	MCF-7	breast:
2	chr1:210467132..210470101-chr1:210476675..210478835,2	MCF-7	breast:
3	chr1:210418192..210421005-chr1:210465903..210469381,6	MCF-7	breast:
4	chr1:210467411..210469958-chr1:210471110..210473541,2	K562	blood:
5	chr1:210468992..210470663-chr1:210546905..210548880,2	K562	blood:
6	chr1:210468377..210470093-chr1:210472227..210474687,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233455	Chromatin interaction
ENSG00000200972	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs1005174	0.86[AFR][1000 genomes]
rs10489383	0.86[AFR][1000 genomes]
rs10489385	0.86[AFR][1000 genomes]
rs10489386	0.86[AFR][1000 genomes]
rs10863819	0.86[AFR][1000 genomes]
rs10863820	0.86[AFR][1000 genomes]
rs10863822	0.86[AFR][1000 genomes]
rs10863825	0.86[AFR][1000 genomes]
rs11119458	0.86[AFR][1000 genomes]
rs11119462	0.86[AFR][1000 genomes]
rs11119473	0.86[AFR][1000 genomes]
rs11119475	0.86[AFR][1000 genomes]
rs11119485	0.86[AFR][1000 genomes]
rs12024862	0.86[AFR][1000 genomes]
rs12030512	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12030856	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12034871	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12040684	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12046133	0.86[AFR][1000 genomes]
rs12049137	0.86[AFR][1000 genomes]
rs12062126	0.86[AFR][1000 genomes]
rs12074229	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12087955	0.86[AFR][1000 genomes]
rs12120970	0.86[AFR][1000 genomes]
rs12134251	0.86[AFR][1000 genomes]
rs12138216	0.83[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs12141780	0.86[AFR][1000 genomes]
rs12143463	0.86[AFR][1000 genomes]
rs1338289	0.86[AFR][1000 genomes]
rs1338290	0.89[EUR][1000 genomes]
rs17016002	0.86[AFR][1000 genomes]
rs1774107	0.83[AFR][1000 genomes]
rs2143591	0.86[AFR][1000 genomes]
rs2294843	0.86[AFR][1000 genomes]
rs2294851	0.86[AFR][1000 genomes]
rs3753230	0.86[AFR][1000 genomes]
rs3765865	0.86[AFR][1000 genomes]
rs3765866	0.86[AFR][1000 genomes]
rs3765877	0.86[AFR][1000 genomes]
rs3765878	0.86[AFR][1000 genomes]
rs3765886	0.86[AFR][1000 genomes]
rs4844520	0.86[AFR][1000 genomes]
rs4844996	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4844997	0.86[AFR][1000 genomes]
rs583148	0.86[EUR][1000 genomes]
rs58366398	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs58469250	0.86[AFR][1000 genomes]
rs587203	0.86[EUR][1000 genomes]
rs588197	0.86[EUR][1000 genomes]
rs58960429	0.86[AFR][1000 genomes]
rs590380	0.86[EUR][1000 genomes]
rs608791	0.86[EUR][1000 genomes]
rs614167	0.83[AFR][1000 genomes]
rs628908	0.83[AFR][1000 genomes]
rs634601	0.83[AFR][1000 genomes]
rs650728	0.83[AFR][1000 genomes]
rs650854	0.87[EUR][1000 genomes]
rs652241	0.86[EUR][1000 genomes]
rs652256	0.86[EUR][1000 genomes]
rs664097	0.83[AFR][1000 genomes]
rs672819	0.83[AFR][1000 genomes]
rs689248	0.86[EUR][1000 genomes]
rs701941	0.83[AFR][1000 genomes]
rs701942	0.83[AFR][1000 genomes]
rs701943	0.83[AFR][1000 genomes]
rs701944	0.83[AFR][1000 genomes]
rs7525927	0.86[AFR][1000 genomes]
rs815358	0.83[AFR][1000 genomes]
rs845455	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv8769	chr1:210403509-210564588	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	126 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210465800-210470200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:210466400-210469400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:210466600-210469000	Enhancers	NHLF	lung
4	chr1:210466600-210469200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr1:210466600-210469600	Enhancers	Rectal Smooth Muscle	rectum
6	chr1:210466600-210470000	Enhancers	Fetal Stomach	stomach
7	chr1:210466600-210474200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr1:210466800-210469200	Enhancers	Colon Smooth Muscle	Colon
9	chr1:210466800-210469400	Enhancers	Adipose Nuclei	Adipose
10	chr1:210466800-210469400	Enhancers	Duodenum Smooth Muscle	Duodenum
11	chr1:210466800-210477400	Enhancers	Fetal Muscle Leg	muscle
12	chr1:210467000-210469400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:210467000-210470000	Enhancers	Fetal Muscle Trunk	muscle
14	chr1:210467200-210469000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:210467200-210469400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:210467200-210469400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:210467200-210469800	Enhancers	Fetal Heart	heart
18	chr1:210467200-210470000	Weak transcription	Fetal Kidney	kidney
19	chr1:210467400-210469200	Enhancers	Aorta	Aorta
20	chr1:210467600-210469000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
21	chr1:210467600-210469200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr1:210467600-210469200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:210467800-210469000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr1:210467800-210469000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:210467800-210469200	Enhancers	Placenta	Placenta
26	chr1:210467800-210469400	Enhancers	Fetal Lung	lung
27	chr1:210467800-210469400	Enhancers	Placenta Amnion	Placenta Amnion
28	chr1:210468000-210469000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr1:210468000-210469000	Enhancers	H1 Cell Line	embryonic stem cell
30	chr1:210468000-210469000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
31	chr1:210468000-210469000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr1:210468000-210469000	Enhancers	HSMMtube	muscle
33	chr1:210468000-210469200	Enhancers	Fetal Intestine Small	intestine
34	chr1:210468000-210469400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:210468200-210469000	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr1:210468200-210469000	Enhancers	Muscle Satellite Cultured Cells	--
37	chr1:210468200-210469200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr1:210468200-210469200	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr1:210468200-210475000	Weak transcription	Ovary	ovary
40	chr1:210468400-210469000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr1:210468400-210469000	Bivalent Enhancer	Fetal Intestine Large	intestine
42	chr1:210468400-210469000	Enhancers	NHEK	skin
43	chr1:210468600-210469000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:210468600-210473600	Weak transcription	Lung	lung
45	chr1:210468600-210474200	Weak transcription	Brain Substantia Nigra	brain
46	chr1:210468800-210469000	Enhancers	NHDF-Ad	bronchial
47	chr1:210468800-210469200	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr1:210468800-210469200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr1:210468800-210470000	Weak transcription	Esophagus	oesophagus
50	chr1:210468800-210470000	Enhancers	Stomach Smooth Muscle	stomach

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