Variant report

Variant	rs4241514
Chromosome Location	chr3:23956617-23956618
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:23956587..23958412-chr3:24004653..24006341,2	K562	blood:
2	chr3:23956507..23958836-chr3:25705831..25708315,2	K562	blood:
3	chr3:23956080..23959048-chr3:23995915..23997492,2	MCF-7	breast:
4	chr3:23954505..23971330-chr3:23977357..23992645,61	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197885	Chromatin interaction
ENSG00000174738	Chromatin interaction
ENSG00000077097	Chromatin interaction
ENSG00000264219	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11717862	0.84[EUR][1000 genomes]
rs12631785	0.88[EUR][1000 genomes]
rs13091509	0.88[EUR][1000 genomes]
rs13095392	0.82[EUR][1000 genomes]
rs4024642	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4025822	0.88[EUR][1000 genomes]
rs4131403	0.85[EUR][1000 genomes]
rs4241517	0.92[EUR][1000 genomes]
rs4241520	0.83[EUR][1000 genomes]
rs4321479	0.85[EUR][1000 genomes]
rs4546101	0.83[EUR][1000 genomes]
rs4589882	0.85[EUR][1000 genomes]
rs4619734	0.85[EUR][1000 genomes]
rs4858094	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4858095	0.85[EUR][1000 genomes]
rs4858098	0.84[EUR][1000 genomes]
rs4858550	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4858551	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4858553	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4858565	0.81[EUR][1000 genomes]
rs4858567	0.84[EUR][1000 genomes]
rs62253379	0.81[EUR][1000 genomes]
rs6419846	0.81[EUR][1000 genomes]
rs6550807	0.82[AMR][1000 genomes]
rs6550815	0.91[EUR][1000 genomes]
rs6550819	0.86[EUR][1000 genomes]
rs6550823	0.82[EUR][1000 genomes]
rs6550824	0.81[EUR][1000 genomes]
rs6762238	0.97[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs6764154	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6779476	0.85[EUR][1000 genomes]
rs6790557	0.83[EUR][1000 genomes]
rs6794922	0.85[EUR][1000 genomes]
rs6807856	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7371944	0.83[EUR][1000 genomes]
rs7431301	0.84[EUR][1000 genomes]
rs7615009	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7615255	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7626431	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7648931	0.83[EUR][1000 genomes]
rs7651185	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9842907	0.83[EUR][1000 genomes]
rs9845287	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9863320	0.91[EUR][1000 genomes]
rs9882735	0.82[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533980	chr3:23445901-24311972	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:23923400-23957000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr3:23923600-23956800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr3:23924200-23957800	Weak transcription	Esophagus	oesophagus
4	chr3:23924200-23957800	Weak transcription	Lung	lung
5	chr3:23928000-23957200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr3:23928800-23957400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr3:23930800-23956800	Weak transcription	Brain Hippocampus Middle	brain
8	chr3:23935000-23957400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr3:23936800-23957200	Weak transcription	Brain Substantia Nigra	brain
10	chr3:23940600-23956800	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr3:23940800-23957000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr3:23940800-23957200	Weak transcription	Right Ventricle	heart
13	chr3:23941400-23956800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr3:23942600-23957000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr3:23942800-23957000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr3:23943000-23957200	Weak transcription	Primary T cells from cord blood	blood
17	chr3:23944600-23957200	Weak transcription	HSMMtube	muscle
18	chr3:23944800-23957000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr3:23946000-23957000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:23946000-23957800	Weak transcription	Gastric	stomach
21	chr3:23952000-23957200	Weak transcription	Spleen	Spleen
22	chr3:23952000-23957800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr3:23952400-23957200	Weak transcription	HSMM	muscle
24	chr3:23952400-23957600	Weak transcription	Fetal Muscle Trunk	muscle
25	chr3:23952600-23956800	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr3:23952600-23956800	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr3:23952600-23957000	Weak transcription	Primary B cells from peripheral blood	blood
28	chr3:23952600-23957400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr3:23952800-23957000	Weak transcription	Fetal Brain Female	brain
30	chr3:23952800-23957200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr3:23952800-23957200	Weak transcription	Placenta	Placenta
32	chr3:23953000-23956800	Weak transcription	Duodenum Mucosa	Duodenum
33	chr3:23953000-23957000	Weak transcription	Fetal Stomach	stomach
34	chr3:23954800-23956800	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr3:23955200-23956800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr3:23955200-23957200	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr3:23955200-23957200	Weak transcription	HUVEC	blood vessel
38	chr3:23955400-23956800	Enhancers	Brain Angular Gyrus	brain
39	chr3:23955400-23957000	Enhancers	A549	lung
40	chr3:23955400-23957200	Enhancers	NHEK	skin
41	chr3:23955800-23957000	Enhancers	Brain Cingulate Gyrus	brain
42	chr3:23956000-23956800	Enhancers	Brain Anterior Caudate	brain
43	chr3:23956000-23957000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr3:23956000-23957000	Enhancers	Fetal Lung	lung
45	chr3:23956000-23957000	Enhancers	Hela-S3	cervix
46	chr3:23956000-23957000	Enhancers	HMEC	breast
47	chr3:23956000-23957000	Enhancers	Osteobl	bone
48	chr3:23956000-23957200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr3:23956000-23957400	Enhancers	Fetal Heart	heart
50	chr3:23956000-23957400	Flanking Active TSS	GM12878-XiMat	blood

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