Variant report

Variant	rs8040769
Chromosome Location	chr15:43473153-43473154
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	POLR2A	chr15:43473029-43473161	HepG2	liver:	n/a	n/a
2	CEBPB	chr15:43473058-43473335	HepG2	liver:	n/a	chr15:43473174-43473185 chr15:43473174-43473187 chr15:43473176-43473187

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:43471322..43474436-chr15:43477554..43479456,3	K562	blood:

Variant related genes	Relation type
EPB42	TF binding region
CCNDBP1	TF binding region
ENSG00000166946	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10048057	1.00[EUR][1000 genomes]
rs10083725	1.00[EUR][1000 genomes]
rs10152237	1.00[EUR][1000 genomes]
rs10220812	1.00[EUR][1000 genomes]
rs1042168	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10438267	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10467909	1.00[EUR][1000 genomes]
rs1078243	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11504654	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11504655	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12324094	1.00[EUR][1000 genomes]
rs12324436	1.00[EUR][1000 genomes]
rs12324573	1.00[EUR][1000 genomes]
rs1474199	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1520519	1.00[EUR][1000 genomes]
rs16957409	1.00[EUR][1000 genomes]
rs16957462	1.00[EUR][1000 genomes]
rs16957499	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16957502	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16957507	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1863601	1.00[GIH][hapmap];1.00[EUR][1000 genomes]
rs2004809	1.00[EUR][1000 genomes]
rs2271964	1.00[EUR][1000 genomes]
rs2271965	0.91[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MKK][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28444219	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28539201	1.00[EUR][1000 genomes]
rs3177296	0.91[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MKK][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34222269	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4419035	1.00[EUR][1000 genomes]
rs505276	1.00[EUR][1000 genomes]
rs58059509	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59401274	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59900401	1.00[EUR][1000 genomes]
rs60435696	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60481556	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61268760	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61343376	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61711558	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7162620	1.00[EUR][1000 genomes]
rs7162971	1.00[EUR][1000 genomes]
rs7171797	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7176183	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7182685	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7183024	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8030850	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8035881	1.00[GIH][hapmap];1.00[EUR][1000 genomes]
rs8039342	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8040960	1.00[EUR][1000 genomes]
rs8041312	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9806236	1.00[EUR][1000 genomes]
rs9806629	1.00[EUR][1000 genomes]
rs9972314	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MKK][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9972367	1.00[EUR][1000 genomes]
rs999025	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525461	chr15:43062548-43482127	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	nsv1044522	chr15:43115348-43658417	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv569241	chr15:43201109-43522922	Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv904136	chr15:43257475-43482127	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv904139	chr15:43268970-43482127	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv1044508	chr15:43270637-43658417	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv904144	chr15:43276345-43482127	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	esv1802035	chr15:43370916-43487742	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8040769	CCNDBP1	cis	multi-tissue	Pritchard

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43427600-43475000	Weak transcription	Stomach Mucosa	stomach
2	chr15:43440800-43476800	Weak transcription	Fetal Brain Male	brain
3	chr15:43441800-43477200	Weak transcription	HSMMtube	muscle
4	chr15:43442000-43476800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr15:43444600-43477200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr15:43444800-43477000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr15:43444800-43477000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr15:43446000-43476600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr15:43447600-43477600	Weak transcription	Small Intestine	intestine
10	chr15:43448000-43477400	Weak transcription	Ovary	ovary
11	chr15:43448200-43477200	Weak transcription	Brain Substantia Nigra	brain
12	chr15:43449600-43477000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr15:43461000-43475400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr15:43461200-43476600	Weak transcription	Fetal Thymus	thymus
15	chr15:43461200-43476800	Weak transcription	Gastric	stomach
16	chr15:43461200-43477000	Weak transcription	A549	lung
17	chr15:43461400-43476800	Weak transcription	Hela-S3	cervix
18	chr15:43461400-43477200	Weak transcription	Right Ventricle	heart
19	chr15:43461600-43477000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr15:43461600-43477000	Weak transcription	Spleen	Spleen
21	chr15:43461600-43477400	Weak transcription	NHLF	lung
22	chr15:43461800-43476800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr15:43462200-43473400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr15:43462400-43477200	Weak transcription	Brain Angular Gyrus	brain
25	chr15:43462600-43477000	Weak transcription	Fetal Heart	heart
26	chr15:43462600-43477200	Weak transcription	HMEC	breast
27	chr15:43463000-43477000	Weak transcription	HUVEC	blood vessel
28	chr15:43463000-43477200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr15:43463400-43477200	Weak transcription	Osteobl	bone
30	chr15:43463600-43476400	Weak transcription	Stomach Smooth Muscle	stomach
31	chr15:43463600-43477000	Weak transcription	Brain Hippocampus Middle	brain
32	chr15:43466400-43477200	Weak transcription	Psoas Muscle	Psoas
33	chr15:43467000-43477200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr15:43467000-43477600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr15:43467800-43475200	Weak transcription	K562	blood
36	chr15:43467800-43475600	Weak transcription	Fetal Brain Female	brain
37	chr15:43467800-43477000	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr15:43467800-43477200	Weak transcription	Colon Smooth Muscle	Colon
39	chr15:43467800-43477200	Weak transcription	HSMM	muscle
40	chr15:43468000-43473200	Weak transcription	HepG2	liver
41	chr15:43468000-43476600	Weak transcription	Fetal Muscle Trunk	muscle
42	chr15:43468000-43476600	Weak transcription	Fetal Muscle Leg	muscle
43	chr15:43468000-43477000	Weak transcription	Placenta	Placenta
44	chr15:43468000-43477200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr15:43468000-43477200	Weak transcription	Fetal Kidney	kidney
46	chr15:43468200-43473200	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr15:43468200-43473600	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr15:43468200-43473600	Weak transcription	Liver	Liver
49	chr15:43468200-43475200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr15:43468200-43476600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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