Variant report

Variant	rs1648121
Chromosome Location	chr8:42869132-42869133
allele	A/G
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	chr8:42868913-42869235	HL-60	blood:	n/a	chr8:42869123-42869136
2	SPI1	chr8:42868951-42869242	HL-60	blood:	n/a	chr8:42869123-42869136

Variant related genes	Relation type
ENSG00000254673	TF binding region
HOOK3	TF binding region

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10087388	0.90[JPT][hapmap]
rs10095511	0.80[CEU][hapmap];0.84[CHB][hapmap];0.90[JPT][hapmap]
rs10111452	0.81[ASN][1000 genomes]
rs10448065	0.84[CHB][hapmap];0.90[JPT][hapmap]
rs10958736	1.00[ASW][hapmap];1.00[CEU][hapmap];0.84[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];0.84[LWK][hapmap];0.94[MEX][hapmap];0.94[MKK][hapmap];0.87[TSI][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10958738	0.87[CEU][hapmap];0.84[CHB][hapmap];0.97[CHD][hapmap];0.90[JPT][hapmap]
rs1129987	0.86[YRI][hapmap];0.80[EUR][1000 genomes]
rs11986681	0.81[CEU][hapmap]
rs13251524	0.81[CEU][hapmap]
rs13257298	0.81[CEU][hapmap]
rs13261180	0.92[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.90[ASN][1000 genomes]
rs13280254	0.80[ASN][1000 genomes]
rs1620525	0.90[JPT][hapmap];0.84[MEX][hapmap];0.84[ASN][1000 genomes]
rs1625050	0.90[JPT][hapmap];0.84[MEX][hapmap]
rs1648119	0.87[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap]
rs16891647	0.84[MEX][hapmap]
rs2042674	0.95[ASN][1000 genomes]
rs2376489	0.85[ASN][1000 genomes]
rs2376490	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2692077	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28626408	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35252795	0.81[CEU][hapmap]
rs4236927	0.92[CHB][hapmap];0.97[CHD][hapmap];0.90[JPT][hapmap];0.89[MEX][hapmap];0.85[ASN][1000 genomes]
rs4272427	0.84[CHB][hapmap];0.84[CHD][hapmap];0.90[JPT][hapmap];0.86[YRI][hapmap]
rs4294230	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4512420	0.84[CHB][hapmap];0.90[JPT][hapmap]
rs4523300	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs4559283	0.81[CEU][hapmap];0.84[CHB][hapmap];0.97[CHD][hapmap];0.90[JPT][hapmap]
rs4623474	0.82[ASW][hapmap];0.87[CEU][hapmap];0.84[CHB][hapmap];0.97[CHD][hapmap];0.90[JPT][hapmap];0.89[LWK][hapmap];0.84[MKK][hapmap];0.93[TSI][hapmap];0.89[YRI][hapmap]
rs4736844	0.84[CHB][hapmap];0.87[CHD][hapmap];0.90[JPT][hapmap]
rs6474429	0.94[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];0.90[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.93[TSI][hapmap];0.83[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6993615	0.82[AFR][1000 genomes]
rs7001861	1.00[CHB][hapmap];0.94[CHD][hapmap];0.90[JPT][hapmap];0.84[MEX][hapmap];0.87[ASN][1000 genomes]
rs7012985	0.86[ASN][1000 genomes]
rs7014595	0.81[CEU][hapmap]
rs7016673	0.82[ASN][1000 genomes]
rs7463608	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs773068	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.93[TSI][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs773069	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs773070	0.90[JPT][hapmap]
rs773071	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs773072	0.90[JPT][hapmap];0.84[MEX][hapmap]
rs7819737	0.85[ASN][1000 genomes]
rs7829867	0.81[CEU][hapmap]
rs7835435	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7838753	0.81[CEU][hapmap];0.84[CHB][hapmap];0.84[CHD][hapmap];0.90[JPT][hapmap]
rs7838899	0.87[AMR][1000 genomes]
rs798827	0.82[CHB][hapmap];0.90[JPT][hapmap];0.84[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890846	chr8:42625663-43240123	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1024688	chr8:42709414-43333639	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv539563	chr8:42709414-43333639	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	nsv1033927	chr8:42748842-43575771	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
5	nsv533812	chr8:42755447-43528350	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
6	nsv1032781	chr8:42772394-43461484	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
7	nsv1021281	chr8:42807619-43472678	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
8	nsv429912	chr8:42852444-43701143	ZNF genes & repeats Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
9	nsv869499	chr8:42858608-43541986	Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
10	nsv916847	chr8:42858611-43541984	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
11	nsv1027779	chr8:42863024-43729296	Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42776000-42874800	Weak transcription	Fetal Heart	heart
2	chr8:42823400-42875600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr8:42824800-42874800	Weak transcription	Hela-S3	cervix
4	chr8:42831800-42872200	Weak transcription	Gastric	stomach
5	chr8:42838200-42872200	Weak transcription	K562	blood
6	chr8:42844600-42873200	Weak transcription	HMEC	breast
7	chr8:42847000-42889400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:42847200-42886800	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr8:42847400-42875400	Weak transcription	Psoas Muscle	Psoas
10	chr8:42848400-42877200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr8:42848400-42879600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr8:42848600-42870400	Weak transcription	Thymus	Thymus
13	chr8:42856800-42877200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:42859000-42891600	Weak transcription	Small Intestine	intestine
15	chr8:42860400-42883200	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr8:42861400-42873800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:42861400-42883200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr8:42861600-42874800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr8:42861600-42881800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:42861800-42873200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr8:42862000-42873800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr8:42862000-42874400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr8:42862200-42877800	Strong transcription	Fetal Muscle Trunk	muscle
24	chr8:42862400-42876600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:42862400-42877800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr8:42862400-42878000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr8:42862400-42881000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr8:42862400-42883000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr8:42862400-42883200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr8:42862400-42884600	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr8:42863000-42869200	Strong transcription	Brain Germinal Matrix	brain
32	chr8:42863000-42870600	Strong transcription	Osteobl	bone
33	chr8:42863000-42873800	Strong transcription	Fetal Intestine Large	intestine
34	chr8:42863000-42878000	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr8:42863000-42881600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr8:42863000-42883200	Strong transcription	Adipose Nuclei	Adipose
37	chr8:42863000-42883200	Strong transcription	Placenta	Placenta
38	chr8:42863400-42879400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr8:42863600-42869200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr8:42863600-42873800	Strong transcription	Fetal Muscle Leg	muscle
41	chr8:42863800-42870200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr8:42864000-42870200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr8:42864000-42883200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr8:42864000-42889400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr8:42864200-42869800	Strong transcription	HSMMtube	muscle
46	chr8:42864200-42870200	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr8:42864200-42873800	Strong transcription	Left Ventricle	heart
48	chr8:42864200-42876000	Strong transcription	Liver	Liver
49	chr8:42864200-42876400	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr8:42864200-42877600	Strong transcription	Primary neutrophils fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links