Variant report

Variant	rs2007458
Chromosome Location	chr22:30388706-30388707
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30231401..30237558-chr22:30387473..30391733,6	MCF-7	breast:
2	chr22:30162215..30164078-chr22:30387745..30390340,2	MCF-7	breast:
3	chr22:30376984..30378787-chr22:30386876..30389530,2	MCF-7	breast:
4	chr22:30388182..30392809-chr22:30393222..30398050,6	K562	blood:
5	chr22:30388182..30391432-chr22:30393585..30396816,3	K562	blood:
6	chr22:30387371..30390104-chr22:30390840..30392967,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184076	Chromatin interaction
ENSG00000100319	Chromatin interaction
ENSG00000100325	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1076135	0.82[CEU][hapmap]
rs12710565	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1548389	0.89[CEU][hapmap]
rs1807508	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1807513	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1989870	0.92[CEU][hapmap]
rs2007446	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs2189802	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2285667	0.89[EUR][1000 genomes]
rs3747149	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3747150	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3788420	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41155	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs41156	0.84[EUR][1000 genomes]
rs41157	0.84[EUR][1000 genomes]
rs41158	0.86[ASN][1000 genomes]
rs41159	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs41161	0.88[EUR][1000 genomes]
rs41165	1.00[CEU][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs41168	0.92[CEU][hapmap]
rs41171	0.93[CEU][hapmap]
rs41173	0.93[CEU][hapmap];0.82[EUR][1000 genomes]
rs4630869	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4820824	1.00[ASN][1000 genomes]
rs55805200	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5752964	0.81[CEU][hapmap]
rs5752973	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5752975	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5752978	0.96[CEU][hapmap]
rs5752992	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763559	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5763565	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5763581	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5763589	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5763591	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5763614	0.83[EUR][1000 genomes]
rs5763638	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763645	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763646	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5763649	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763650	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5763651	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5763670	0.88[EUR][1000 genomes]
rs5763671	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763688	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763775	0.89[CEU][hapmap]
rs5763779	0.92[CEU][hapmap]
rs59663694	0.88[EUR][1000 genomes]
rs5997546	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6006300	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7285583	0.80[EUR][1000 genomes]
rs7289604	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73162764	0.87[EUR][1000 genomes]
rs737908	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs737911	0.89[CEU][hapmap]
rs737939	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9306468	0.93[CEU][hapmap]
rs960987	0.84[EUR][1000 genomes]
rs997913	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv3591	chr22:30344208-30388897	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30350600-30402600	Weak transcription	Aorta	Aorta
2	chr22:30354600-30390200	Weak transcription	Colonic Mucosa	Colon
3	chr22:30354800-30390400	Weak transcription	Small Intestine	intestine
4	chr22:30363400-30427800	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr22:30366600-30390800	Weak transcription	Gastric	stomach
6	chr22:30367000-30426600	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr22:30367400-30397800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr22:30370000-30391000	Weak transcription	Fetal Heart	heart
9	chr22:30370600-30390800	Weak transcription	Right Ventricle	heart
10	chr22:30370800-30390000	Weak transcription	Stomach Mucosa	stomach
11	chr22:30373800-30391400	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr22:30374200-30389600	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr22:30375200-30389800	Weak transcription	K562	blood
14	chr22:30375200-30403200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr22:30375400-30390800	Weak transcription	Pancreas	Pancrea
16	chr22:30375800-30389800	Weak transcription	HUVEC	blood vessel
17	chr22:30376200-30389800	Weak transcription	Hela-S3	cervix
18	chr22:30376200-30394800	Weak transcription	GM12878-XiMat	blood
19	chr22:30377000-30389400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr22:30377600-30402800	Weak transcription	Fetal Brain Male	brain
21	chr22:30378200-30398800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr22:30378400-30391400	Strong transcription	Primary B cells from peripheral blood	blood
23	chr22:30379200-30391200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr22:30379800-30390800	Weak transcription	Esophagus	oesophagus
25	chr22:30380800-30391800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr22:30381000-30397600	Weak transcription	Fetal Kidney	kidney
27	chr22:30382000-30389600	Strong transcription	Liver	Liver
28	chr22:30382000-30390600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr22:30382200-30389200	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr22:30382400-30388800	Weak transcription	HSMM	muscle
31	chr22:30382600-30392000	Strong transcription	Primary T cells from cord blood	blood
32	chr22:30383200-30389200	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr22:30383200-30390400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr22:30383800-30391600	Strong transcription	Primary B cells from cord blood	blood
35	chr22:30384000-30388800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr22:30384200-30391000	Weak transcription	Brain Substantia Nigra	brain
37	chr22:30384200-30398400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr22:30384200-30403800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr22:30384400-30393400	Weak transcription	Brain Hippocampus Middle	brain
40	chr22:30384400-30404000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr22:30384600-30389200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr22:30384800-30390800	Strong transcription	Primary hematopoietic stem cells	blood
43	chr22:30385000-30390200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr22:30385000-30390600	Strong transcription	Placenta	Placenta
45	chr22:30385000-30404000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr22:30385600-30389000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr22:30385600-30390000	Strong transcription	Dnd41	blood
48	chr22:30385800-30389200	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr22:30385800-30389800	Strong transcription	Fetal Stomach	stomach
50	chr22:30386000-30389400	Strong transcription	Thymus	Thymus

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