Variant report

Variant	rs11852712
Chromosome Location	chr15:76030221-76030222
allele	C/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	ELF1	chr15:76030207-76031604	GM12878	blood:	n/a	chr15:76030528-76030539 chr15:76030996-76031008 chr15:76030529-76030538
2	POLR2A	chr15:76030053-76030457	GM12878	blood:	n/a	n/a
3	POLR2A	chr15:76030039-76030233	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000256530	TF binding region

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10163112	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10519109	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11852472	0.80[ASN][1000 genomes]
rs11854305	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11858818	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12898509	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12899163	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12899303	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12900007	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12900167	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12903661	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12904654	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12905062	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12905730	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13329104	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1823175	0.89[ASN][1000 genomes]
rs1850261	0.89[ASN][1000 genomes]
rs1964473	0.88[ASN][1000 genomes]
rs1964474	0.86[ASN][1000 genomes]
rs1996302	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1996303	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2002668	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2004630	0.86[ASN][1000 genomes]
rs2004920	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2009508	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2010392	0.91[ASN][1000 genomes]
rs2017312	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2290484	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2405718	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2405719	0.81[EUR][1000 genomes]
rs2405882	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28404806	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28541422	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28615348	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28651447	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28657001	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28688252	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28695212	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28695716	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28744558	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28833005	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28837134	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34243492	0.88[ASN][1000 genomes]
rs34402412	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34469290	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34571038	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34605750	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34611707	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34941412	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35019194	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35135316	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35136767	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35147271	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35237189	0.80[ASN][1000 genomes]
rs35411779	0.87[ASN][1000 genomes]
rs35575236	0.85[AMR][1000 genomes]
rs35745834	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35842909	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35880865	0.80[ASN][1000 genomes]
rs36057011	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3751536	0.80[ASN][1000 genomes]
rs3845233	0.86[ASN][1000 genomes]
rs3845234	0.86[ASN][1000 genomes]
rs3850092	0.87[ASN][1000 genomes]
rs3861184	0.89[ASN][1000 genomes]
rs4503758	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55744943	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57905971	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60214227	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs66838310	0.88[ASN][1000 genomes]
rs67908345	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71403504	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71403505	0.84[AMR][1000 genomes]
rs71462532	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7163633	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7165531	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7181595	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs74026532	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8026234	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8027311	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8028002	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8037672	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs8041390	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs8041670	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3445070	chr15:75623136-76045948	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
2	nsv531903	chr15:75889302-76342128	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
3	nsv527186	chr15:75924443-76107730	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	69 gene(s)	inside rSNPs	diseases
4	nsv904392	chr15:75930757-76039262	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
5	nsv904394	chr15:75948671-76039262	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv904396	chr15:75961518-76071105	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76024400-76030400	Weak transcription	Primary B cells from cord blood	blood
2	chr15:76024800-76030400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr15:76025000-76030400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr15:76025200-76030400	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr15:76025200-76030400	Weak transcription	Right Atrium	heart
6	chr15:76025400-76030400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr15:76025600-76030400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr15:76025600-76030400	Weak transcription	Brain Anterior Caudate	brain
9	chr15:76025600-76030400	Weak transcription	Right Ventricle	heart
10	chr15:76026400-76030400	Weak transcription	Lung	lung
11	chr15:76027200-76030400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr15:76029000-76030400	Weak transcription	Brain Substantia Nigra	brain
13	chr15:76029000-76030400	Enhancers	Colon Smooth Muscle	Colon
14	chr15:76029000-76032000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr15:76029400-76031200	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr15:76029600-76030400	Enhancers	Liver	Liver
17	chr15:76029600-76030400	Weak transcription	Esophagus	oesophagus
18	chr15:76029600-76031200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr15:76029600-76031400	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr15:76029600-76031400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr15:76029800-76031200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr15:76029800-76031200	Active TSS	GM12878-XiMat	blood
23	chr15:76029800-76031600	Active TSS	H9 Cell Line	embryonic stem cell
24	chr15:76029800-76031600	Active TSS	HSMM	muscle
25	chr15:76030000-76031600	Active TSS	NHEK	skin
26	chr15:76030200-76030400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
27	chr15:76030200-76030400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr15:76030200-76030400	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr15:76030200-76030400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr15:76030200-76030400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr15:76030200-76030400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr15:76030200-76030400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr15:76030200-76030400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr15:76030200-76030400	Enhancers	Primary B cells from peripheral blood	blood
35	chr15:76030200-76030400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
36	chr15:76030200-76030400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr15:76030200-76030400	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr15:76030200-76030400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr15:76030200-76030400	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr15:76030200-76030400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr15:76030200-76030400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr15:76030200-76030400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr15:76030200-76030400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr15:76030200-76030400	Active TSS	Brain Germinal Matrix	brain
45	chr15:76030200-76030400	Flanking Active TSS	Brain Hippocampus Middle	brain
46	chr15:76030200-76030400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
47	chr15:76030200-76030400	Flanking Active TSS	Fetal Heart	heart
48	chr15:76030200-76030400	Flanking Active TSS	Fetal Lung	lung
49	chr15:76030200-76030400	Flanking Active TSS	Fetal Muscle Leg	muscle
50	chr15:76030200-76030400	Enhancers	Placenta	Placenta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links