Variant report

Variant	rs12501415
Chromosome Location	chr4:7786467-7786468
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:7785064..7787531-chr4:7788291..7790828,3	K562	blood:
2	chr4:7784424..7786891-chr4:7788959..7792253,4	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10516188	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10937859	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12505487	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12509628	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12511332	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12511919	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12512093	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12512166	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16841110	0.92[AMR][1000 genomes]
rs16841121	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16841150	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16841183	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16841209	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16841268	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16841283	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16841288	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2269877	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2285763	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2285768	0.89[AMR][1000 genomes]
rs34002186	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56177309	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6824231	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs730420	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73797315	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs877707	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9683902	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9790400	0.84[EUR][1000 genomes]
rs9790478	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878570	chr4:7534603-7836835	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1007319	chr4:7705550-7832097	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv537018	chr4:7705550-7832097	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7758400-7795400	Weak transcription	Hela-S3	cervix
2	chr4:7759400-7790400	Weak transcription	Psoas Muscle	Psoas
3	chr4:7762000-7788000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr4:7762000-7805800	Weak transcription	Stomach Mucosa	stomach
5	chr4:7770800-7828400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr4:7776400-7787200	Weak transcription	Fetal Brain Male	brain
7	chr4:7776400-7790000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:7776400-7799000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr4:7776400-7800000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr4:7776400-7806800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr4:7780200-7794400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr4:7780600-7788000	Genic enhancers	Osteobl	bone
13	chr4:7780600-7800200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr4:7780800-7790600	Weak transcription	Pancreas	Pancrea
15	chr4:7781000-7800000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr4:7781200-7796000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr4:7781400-7800400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr4:7781400-7801000	Weak transcription	Brain Substantia Nigra	brain
19	chr4:7781400-7801200	Weak transcription	Brain Anterior Caudate	brain
20	chr4:7781600-7786800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr4:7781600-7789400	Strong transcription	Muscle Satellite Cultured Cells	--
22	chr4:7781600-7791400	Strong transcription	Fetal Intestine Large	intestine
23	chr4:7781600-7807400	Weak transcription	Brain Angular Gyrus	brain
24	chr4:7781800-7786800	Weak transcription	Fetal Kidney	kidney
25	chr4:7781800-7790000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr4:7782000-7786600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr4:7782000-7790600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr4:7782200-7791000	Strong transcription	Stomach Smooth Muscle	stomach
29	chr4:7782600-7790800	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr4:7783200-7788200	Enhancers	GM12878-XiMat	blood
31	chr4:7783400-7794000	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr4:7783400-7798800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr4:7783400-7799200	Weak transcription	HepG2	liver
34	chr4:7783600-7789200	Strong transcription	HSMM	muscle
35	chr4:7783800-7806200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr4:7784000-7786600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr4:7784000-7791000	Weak transcription	Spleen	Spleen
38	chr4:7784000-7792800	Weak transcription	Primary T cells from cord blood	blood
39	chr4:7784000-7794200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr4:7784000-7794400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr4:7784000-7801800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr4:7784000-7821200	Weak transcription	Small Intestine	intestine
43	chr4:7784200-7786800	Weak transcription	Lung	lung
44	chr4:7784200-7786800	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr4:7784200-7788800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr4:7784200-7790600	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr4:7784200-7797800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr4:7784200-7800600	Weak transcription	Brain Hippocampus Middle	brain
49	chr4:7784200-7800600	Weak transcription	Esophagus	oesophagus
50	chr4:7784200-7802200	Weak transcription	Aorta	Aorta

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