Variant report

Variant	rs4418603
Chromosome Location	chr1:150989274-150989275
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:150989173..150990736-chr1:150994732..150997367,2	MCF-7	breast:
2	chr1:150981579..150983515-chr1:150988748..150990453,2	MCF-7	breast:
3	chr1:150988741..150990309-chr1:151021860..151024811,2	MCF-7	breast:
4	chr1:150967937..150969769-chr1:150986462..150989877,3	K562	blood:
5	chr1:150984595..150987305-chr1:150988636..150991774,4	K562	blood:
6	chr1:150988457..150989978-chr1:151028949..151031751,2	K562	blood:

Variant related genes	Relation type
ENSG00000213190	Chromatin interaction
ENSG00000200759	Chromatin interaction
ENSG00000143363	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11204755	0.89[EUR][1000 genomes]
rs11204765	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11204766	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12068365	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12068631	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12070288	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12073630	0.89[EUR][1000 genomes]
rs12074446	0.89[EUR][1000 genomes]
rs12075317	0.89[EUR][1000 genomes]
rs12078033	0.89[EUR][1000 genomes]
rs12079970	0.87[EUR][1000 genomes]
rs12096801	0.87[EUR][1000 genomes]
rs1673161	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16832976	0.85[EUR][1000 genomes]
rs28527376	0.87[EUR][1000 genomes]
rs2925740	0.89[EUR][1000 genomes]
rs3002292	0.98[EUR][1000 genomes]
rs41266632	0.85[EUR][1000 genomes]
rs41310885	0.87[EUR][1000 genomes]
rs6664387	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6695311	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7526955	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs955955	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9661107	0.86[AFR][1000 genomes];0.91[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	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
4	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150981800-150997000	Weak transcription	Aorta	Aorta
2	chr1:150981800-151006400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:150982000-150990200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr1:150982000-150990400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr1:150982000-150990400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr1:150982000-150996800	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr1:150982000-150997000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr1:150982000-150997000	Weak transcription	Esophagus	oesophagus
9	chr1:150982000-150997000	Weak transcription	Psoas Muscle	Psoas
10	chr1:150982000-150998000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr1:150982000-150999600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr1:150982000-151009000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:150982200-150990400	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr1:150982200-150990600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr1:150982200-150995200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:150982200-150997200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:150982200-150997200	Weak transcription	HUVEC	blood vessel
18	chr1:150982200-150999400	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr1:150982200-150999800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr1:150982200-151002800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr1:150982400-150992800	Weak transcription	NHDF-Ad	bronchial
22	chr1:150982400-150995200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:150983200-150997200	Weak transcription	Thymus	Thymus
24	chr1:150983600-150990200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr1:150984000-150990400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:150984000-150990400	Weak transcription	Brain Hippocampus Middle	brain
27	chr1:150984000-150990600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:150984000-150997000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr1:150984000-150999800	Weak transcription	Hela-S3	cervix
30	chr1:150984200-150989800	Weak transcription	Dnd41	blood
31	chr1:150984200-150990400	Weak transcription	Fetal Thymus	thymus
32	chr1:150984200-150990600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr1:150984200-150990800	Weak transcription	HSMM	muscle
34	chr1:150984200-150995200	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr1:150984200-150997000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr1:150984200-150997000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr1:150984200-150997000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr1:150984200-150998800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr1:150984200-150999600	Weak transcription	NHEK	skin
40	chr1:150984200-151006400	Weak transcription	HMEC	breast
41	chr1:150984800-150990200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr1:150984800-150991000	Weak transcription	Brain Germinal Matrix	brain
43	chr1:150984800-150995400	Weak transcription	HSMMtube	muscle
44	chr1:150985000-150994200	Strong transcription	Fetal Muscle Trunk	muscle
45	chr1:150985800-150990600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr1:150986000-150997000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr1:150986000-151000800	Weak transcription	A549	lung
48	chr1:150986000-151003200	Weak transcription	Fetal Brain Male	brain
49	chr1:150986200-150989400	Weak transcription	Lung	lung
50	chr1:150986200-150989800	Weak transcription	Brain Inferior Temporal Lobe	brain

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