Variant report

Variant	rs12965515
Chromosome Location	chr18:29460482-29460483
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr18:29460439-29460819	GM12891	blood:	n/a	n/a
2	SPI1	chr18:29460377-29460939	HL-60	blood:	n/a	n/a
3	SPI1	chr18:29460427-29460919	HL-60	blood:	n/a	n/a
4	SPI1	chr18:29460426-29460797	GM12891	blood:	n/a	n/a
5	SPI1	chr18:29460476-29460789	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000270518	TF binding region
ENSG00000270879	TF binding region

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

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10153421	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12326219	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12326244	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12327141	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12709653	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12956638	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12957365	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12957830	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12959996	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12963424	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12963629	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12965893	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12967531	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12968487	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2035418	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2291238	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28540496	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34011014	0.97[ASN][1000 genomes]
rs34846731	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36062390	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4581778	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7233820	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7244508	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73954904	0.97[ASN][1000 genomes]
rs73958215	0.97[ASN][1000 genomes]
rs8084584	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8086196	0.97[ASN][1000 genomes]
rs8087104	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9675795	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9807439	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431975	chr18:29311034-29527902	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv1057229	chr18:29335175-29514265	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29405600-29481800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr18:29406200-29518600	Weak transcription	Fetal Brain Male	brain
3	chr18:29408600-29471800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr18:29409800-29466600	Weak transcription	Gastric	stomach
5	chr18:29415800-29461800	Weak transcription	Fetal Heart	heart
6	chr18:29417600-29515600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr18:29418400-29470400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr18:29419000-29461800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr18:29431800-29461800	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr18:29431800-29499000	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr18:29431800-29512600	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr18:29432400-29461200	Weak transcription	Psoas Muscle	Psoas
13	chr18:29432400-29468200	Weak transcription	Small Intestine	intestine
14	chr18:29432400-29480000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr18:29432600-29481600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr18:29432600-29507600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr18:29432600-29521400	Weak transcription	Stomach Mucosa	stomach
18	chr18:29434000-29460800	Weak transcription	A549	lung
19	chr18:29446000-29489000	Strong transcription	Fetal Thymus	thymus
20	chr18:29449200-29460600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr18:29449200-29489000	Strong transcription	Adipose Nuclei	Adipose
22	chr18:29450000-29464800	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr18:29450200-29471800	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr18:29450400-29462600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr18:29451800-29465400	Strong transcription	Dnd41	blood
26	chr18:29452000-29472000	Strong transcription	Primary B cells from peripheral blood	blood
27	chr18:29453200-29461200	Strong transcription	Primary B cells from cord blood	blood
28	chr18:29455800-29464200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr18:29455800-29465200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr18:29456000-29479200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr18:29456000-29480000	Weak transcription	Rectal Smooth Muscle	rectum
32	chr18:29456200-29466600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr18:29457000-29465200	Weak transcription	HSMMtube	muscle
34	chr18:29457000-29480400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr18:29457000-29505800	Weak transcription	Brain Angular Gyrus	brain
36	chr18:29457200-29460600	Weak transcription	Brain Anterior Caudate	brain
37	chr18:29457200-29460600	Weak transcription	GM12878-XiMat	blood
38	chr18:29457200-29460600	Weak transcription	HUVEC	blood vessel
39	chr18:29457200-29461800	Weak transcription	Placenta	Placenta
40	chr18:29457200-29462000	Weak transcription	Stomach Smooth Muscle	stomach
41	chr18:29457200-29462200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr18:29457200-29463200	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr18:29457200-29463400	Weak transcription	NH-A	brain
44	chr18:29457200-29463800	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr18:29457200-29465200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr18:29457200-29468600	Weak transcription	HMEC	breast
47	chr18:29457200-29479600	Weak transcription	Colonic Mucosa	Colon
48	chr18:29457200-29493200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr18:29457400-29462000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr18:29457400-29479800	Weak transcription	Pancreas	Pancrea

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