Variant report

Variant	rs12187921
Chromosome Location	chr5:154209800-154209801
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:154209529..154211376-chr5:154214452..154217277,2	K562	blood:
2	chr5:154209195..154209843-chr5:154222467..154223169,2	MCF-7	breast:
3	chr5:154209594..154211615-chr5:154213176..154215007,2	K562	blood:
4	chr5:154205913..154219158-chr5:154234172..154242635,38	MCF-7	breast:
5	chr5:154209699..154211619-chr5:154317266..154319045,2	MCF-7	breast:
6	chr5:154207634..154212086-chr5:154212438..154216728,14	MCF-7	breast:
7	chr5:154209070..154210004-chr5:154224047..154224831,3	MCF-7	breast:
8	chr5:154133318..154137368-chr5:154208082..154212477,8	MCF-7	breast:
9	chr5:154200501..154205115-chr5:154206575..154209973,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000082516	Chromatin interaction
ENSG00000155506	Chromatin interaction
ENSG00000170271	Chromatin interaction
ENSG00000155508	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs1035368	1.00[CHB][hapmap];1.00[TSI][hapmap]
rs10515727	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs12186480	0.89[EUR][1000 genomes]
rs12186610	0.85[EUR][1000 genomes]
rs12187572	0.97[EUR][1000 genomes]
rs12187890	0.90[EUR][1000 genomes]
rs12187934	0.86[EUR][1000 genomes]
rs12187974	0.86[EUR][1000 genomes]
rs12188149	0.92[EUR][1000 genomes]
rs12188498	1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12188828	1.00[CHB][hapmap]
rs12188906	1.00[CEU][hapmap];0.80[YRI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12189508	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12300	0.90[TSI][hapmap]
rs1421813	0.92[EUR][1000 genomes]
rs1421814	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs1421815	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs1421819	0.91[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs17096232	1.00[CEU][hapmap];0.94[GIH][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17116409	1.00[CEU][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs17116417	1.00[CEU][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17116421	1.00[CHB][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap]
rs17116433	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17116442	1.00[CHB][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap]
rs17116455	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17116489	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17116534	1.00[TSI][hapmap]
rs17116638	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs17116669	0.84[EUR][1000 genomes]
rs180846	1.00[CHB][hapmap]
rs1974776	1.00[CHB][hapmap];1.00[TSI][hapmap]
rs1974777	1.00[CHB][hapmap];1.00[TSI][hapmap]
rs2042168	1.00[CHB][hapmap]
rs2161128	1.00[CHB][hapmap]
rs2258437	1.00[CHB][hapmap];1.00[TSI][hapmap]
rs2291780	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs2544860	0.85[CHB][hapmap]
rs2544880	1.00[CHB][hapmap];1.00[TSI][hapmap]
rs2544884	0.82[CHB][hapmap];0.82[JPT][hapmap];1.00[TSI][hapmap]
rs2644743	1.00[CHB][hapmap];1.00[TSI][hapmap]
rs2644744	1.00[TSI][hapmap]
rs2688198	1.00[TSI][hapmap]
rs2688201	1.00[CHB][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap]
rs32427	0.85[CHB][hapmap]
rs348739	1.00[CHB][hapmap];1.00[TSI][hapmap]
rs348748	1.00[CHB][hapmap]
rs348749	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs348750	1.00[CHB][hapmap];1.00[TSI][hapmap]
rs348752	1.00[CHB][hapmap];1.00[TSI][hapmap]
rs3776984	1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs39614	1.00[CHB][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap]
rs4452598	0.86[EUR][1000 genomes]
rs4626377	0.86[EUR][1000 genomes]
rs55692274	0.90[EUR][1000 genomes]
rs56773390	0.94[EUR][1000 genomes]
rs56895891	0.86[EUR][1000 genomes]
rs61145644	0.86[EUR][1000 genomes]
rs6580123	0.90[EUR][1000 genomes]
rs6865950	0.91[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs6871813	0.86[EUR][1000 genomes]
rs6895588	0.86[EUR][1000 genomes]
rs6895702	0.86[EUR][1000 genomes]
rs6895741	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[LWK][hapmap];0.94[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs702742	1.00[CHB][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap]
rs73806917	0.97[EUR][1000 genomes]
rs73807206	0.92[EUR][1000 genomes]
rs73807207	0.92[EUR][1000 genomes]
rs73807213	0.90[EUR][1000 genomes]
rs73807216	0.86[EUR][1000 genomes]
rs73809507	0.92[EUR][1000 genomes]
rs7709899	0.92[EUR][1000 genomes]
rs7716019	1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[LWK][hapmap];0.94[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs816717	1.00[CHB][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap]
rs816718	1.00[CHB][hapmap];0.95[TSI][hapmap]
rs816720	1.00[CHB][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap]
rs816747	0.85[CHB][hapmap]
rs960499	0.85[CHB][hapmap]

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	nsv830521	chr5:154147567-154244266	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:154174000-154212200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:154181000-154211600	Strong transcription	Brain Hippocampus Middle	brain
3	chr5:154182000-154211400	Strong transcription	Left Ventricle	heart
4	chr5:154187000-154211400	Strong transcription	Fetal Stomach	stomach
5	chr5:154191800-154211600	Strong transcription	Adipose Nuclei	Adipose
6	chr5:154193000-154211800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:154195600-154214400	Weak transcription	Small Intestine	intestine
8	chr5:154196000-154229200	Weak transcription	Psoas Muscle	Psoas
9	chr5:154196400-154214000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr5:154197600-154214400	Weak transcription	HUVEC	blood vessel
11	chr5:154197800-154214400	Weak transcription	Hela-S3	cervix
12	chr5:154198600-154211200	Strong transcription	Stomach Smooth Muscle	stomach
13	chr5:154198600-154211400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:154199400-154214400	Weak transcription	Right Atrium	heart
15	chr5:154200200-154214400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:154200800-154214000	Weak transcription	Fetal Heart	heart
17	chr5:154201000-154228000	Weak transcription	Fetal Brain Male	brain
18	chr5:154203400-154229000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr5:154203600-154214400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr5:154203800-154210600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr5:154203800-154211400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr5:154204000-154210000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr5:154204200-154211000	Weak transcription	Thymus	Thymus
24	chr5:154204200-154214400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr5:154204400-154210000	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr5:154204400-154211400	Strong transcription	Liver	Liver
27	chr5:154204400-154213800	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr5:154204400-154213800	Weak transcription	NHDF-Ad	bronchial
29	chr5:154204400-154214400	Weak transcription	Brain Germinal Matrix	brain
30	chr5:154205400-154211400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr5:154205800-154209800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr5:154205800-154211400	Strong transcription	Fetal Intestine Small	intestine
33	chr5:154206400-154212800	Strong transcription	Brain Anterior Caudate	brain
34	chr5:154206600-154210600	Enhancers	Primary T cells fromperipheralblood	blood
35	chr5:154206600-154210800	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr5:154206600-154211800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr5:154206800-154210400	Enhancers	HMEC	breast
38	chr5:154206800-154211000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr5:154206800-154211000	Strong transcription	Brain Cingulate Gyrus	brain
40	chr5:154206800-154211000	Strong transcription	Fetal Lung	lung
41	chr5:154206800-154211400	Genic enhancers	HepG2	liver
42	chr5:154207000-154211400	Strong transcription	Brain Substantia Nigra	brain
43	chr5:154207200-154210000	Strong transcription	Placenta	Placenta
44	chr5:154207200-154210200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr5:154207200-154210800	Strong transcription	Brain Inferior Temporal Lobe	brain
46	chr5:154207200-154211400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr5:154207200-154211400	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr5:154207200-154211600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr5:154207400-154210800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr5:154207400-154211400	Strong transcription	Colon Smooth Muscle	Colon

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