Variant report

Variant	rs34983773
Chromosome Location	chr12:105634211-105634212
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr12:105633983-105634283	GM12891	blood:	n/a	n/a
2	SPI1	chr12:105634061-105634317	K562	blood:	n/a	n/a
3	SPI1	chr12:105634005-105634346	GM12891	blood:	n/a	n/a
4	SPI1	chr12:105634112-105634264	GM12878	blood:	n/a	n/a
5	SPI1	chr12:105633983-105634456	HL-60	blood:	n/a	n/a
6	SPI1	chr12:105633915-105634490	GM12878	blood:	n/a	n/a
7	SPI1	chr12:105633935-105634484	HL-60	blood:	n/a	n/a
8	SPI1	chr12:105634037-105634287	GM12878	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:105632034..105634612-chr12:105649228..105651077,2	MCF-7	breast:
2	chr12:105628928..105631591-chr12:105632421..105636831,6	MCF-7	breast:
3	chr12:105628535..105631488-chr12:105632035..105634749,3	K562	blood:

No data

Variant related genes	Relation type
APPL2	TF binding region
ENSG00000235162	Chromatin interaction
ENSG00000136044	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs1014502	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10431460	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1057110	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1077896	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10861359	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10861361	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10861363	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10861367	0.82[AFR][1000 genomes]
rs1109433	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11112369	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11112370	0.87[EUR][1000 genomes]
rs11112372	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11112375	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11112376	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11112379	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11112388	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11112409	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11112412	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11112415	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11112416	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11112421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112423	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11112432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11112433	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11112440	0.82[AFR][1000 genomes]
rs11831854	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11832489	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11834277	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12228093	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12228948	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12580027	0.82[AFR][1000 genomes]
rs12812433	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12815031	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12819309	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12819795	0.82[AFR][1000 genomes]
rs1317955	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1373552	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1444611	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1470381	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2272495	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2293643	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2293644	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28549976	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34075890	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35462155	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35672903	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3736628	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3794222	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3794223	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3794224	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3794227	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3817607	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3829296	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4964125	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4964128	0.82[ASN][1000 genomes]
rs4964334	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4964335	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4964336	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4964338	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4964339	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4964340	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4964342	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4964347	0.81[ASN][1000 genomes]
rs4964351	0.82[AFR][1000 genomes]
rs4964352	0.82[AFR][1000 genomes]
rs56693261	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73179994	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7484699	0.81[ASN][1000 genomes]
rs7485364	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7485511	0.82[AFR][1000 genomes]
rs7485535	0.82[AFR][1000 genomes]
rs7487098	0.81[ASN][1000 genomes]
rs755604	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8015	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs881279	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9919746	0.87[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	nsv832506	chr12:105461274-105637561	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	nsv455704	chr12:105583877-105651356	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
3	nsv560053	chr12:105583877-105651356	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
4	nsv899499	chr12:105616297-105722529	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105630800-105634400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr12:105630800-105639000	Weak transcription	Pancreas	Pancrea
3	chr12:105630800-105639000	Weak transcription	NHLF	lung
4	chr12:105632400-105638800	Weak transcription	NHDF-Ad	bronchial
5	chr12:105632800-105634400	Enhancers	Stomach Mucosa	stomach
6	chr12:105633400-105635000	Enhancers	Primary B cells from peripheral blood	blood
7	chr12:105633400-105635200	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr12:105633600-105634400	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr12:105633600-105634400	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr12:105633600-105634600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr12:105633600-105635200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:105633600-105635200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:105633800-105634600	Enhancers	Primary T cells from cord blood	blood
14	chr12:105633800-105634600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr12:105633800-105634600	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr12:105633800-105634800	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr12:105633800-105637000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr12:105633800-105638800	Weak transcription	Osteobl	bone
19	chr12:105633800-105639000	Weak transcription	Gastric	stomach
20	chr12:105633800-105639200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr12:105634000-105635200	Enhancers	Primary B cells from cord blood	blood
22	chr12:105634200-105634600	Active TSS	Primary hematopoietic stem cells	blood
23	chr12:105634200-105634600	Enhancers	Primary T helper cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links