Variant report

Variant	rs8031111
Chromosome Location	chr15:43203742-43203743
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	USF1	chr15:43203520-43203913	K562	blood:	n/a	chr15:43203691-43203702
2	USF2	chr15:43203529-43203825	Hela-S3	cervix:	n/a	chr15:43203691-43203702
3	USF1	chr15:43203510-43203816	K562	blood:	n/a	chr15:43203691-43203702
4	USF1	chr15:43203598-43203819	ECC-1	luminal epithelium:	n/a	chr15:43203691-43203702
5	USF1	chr15:43203533-43203762	SK-N-SH	brain:	n/a	chr15:43203691-43203702
6	USF1	chr15:43203488-43203825	H1-hESC	embryonic stem cell:	n/a	chr15:43203691-43203702
7	USF1	chr15:43203612-43203743	SK-N-SH_RA	brain:	n/a	chr15:43203691-43203702
8	USF1	chr15:43203536-43203819	H1-hESC	embryonic stem cell:	n/a	chr15:43203691-43203702
9	USF1	chr15:43203519-43203926	HCT-116	colon:	n/a	chr15:43203691-43203702
10	USF2	chr15:43203575-43203836	H1-hESC	embryonic stem cell:	n/a	chr15:43203691-43203702
11	USF1	chr15:43203521-43203812	SK-N-SH_RA	brain:	n/a	chr15:43203691-43203702
12	STAT3	chr15:43203252-43203861	MCF10A-Er-Src	breast:	n/a	n/a
13	USF1	chr15:43203473-43203890	ECC-1	luminal epithelium:	n/a	chr15:43203691-43203702
14	USF2	chr15:43203588-43203788	HepG2	liver:	n/a	chr15:43203691-43203702

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:43197523..43199091-chr15:43202841..43204475,2	K562	blood:
2	chr15:43201061..43205182-chr15:43207494..43209457,4	K562	blood:

Variant related genes	Relation type
TTBK2	TF binding region

Extended variants
information (count: 57 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10220713	1.00[EUR][1000 genomes]
rs10220718	1.00[EUR][1000 genomes]
rs10220726	1.00[CHD][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10220875	1.00[EUR][1000 genomes]
rs11070384	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11504666	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1317628	1.00[EUR][1000 genomes]
rs13379871	1.00[EUR][1000 genomes]
rs13380157	1.00[EUR][1000 genomes]
rs13380212	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13380301	1.00[EUR][1000 genomes]
rs16957002	1.00[EUR][1000 genomes]
rs16957125	1.00[EUR][1000 genomes]
rs16957138	1.00[EUR][1000 genomes]
rs16957164	1.00[EUR][1000 genomes]
rs16957185	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16957187	1.00[EUR][1000 genomes]
rs16957201	1.00[EUR][1000 genomes]
rs16957292	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1877137	1.00[EUR][1000 genomes]
rs1877138	1.00[EUR][1000 genomes]
rs2054388	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2306127	1.00[ASN][1000 genomes]
rs2306128	1.00[ASN][1000 genomes]
rs28535059	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34436896	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35584827	1.00[EUR][1000 genomes]
rs56894749	1.00[EUR][1000 genomes]
rs57880396	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59276064	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60789298	1.00[EUR][1000 genomes]
rs60832391	1.00[EUR][1000 genomes]
rs60881935	1.00[EUR][1000 genomes]
rs61682243	1.00[EUR][1000 genomes]
rs7164041	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7165249	1.00[EUR][1000 genomes]
rs7174661	1.00[EUR][1000 genomes]
rs7175062	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7495345	1.00[ASN][1000 genomes]
rs8032994	1.00[EUR][1000 genomes]
rs9806161	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9806313	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427959	chr15:42931181-43207353	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1050128	chr15:43056145-43262736	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv542368	chr15:43056145-43262736	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	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
5	nsv904134	chr15:43097652-43357406	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	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
7	nsv515876	chr15:43116906-43445305	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv904135	chr15:43143998-43392075	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv1036512	chr15:43164906-43274531	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	esv3408090	chr15:43172709-43207571	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	esv3366604	chr15:43172709-43210677	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	esv3408604	chr15:43175709-43207571	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv569239	chr15:43201109-43392075	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv569240	chr15:43201109-43445305	Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
15	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8031111	CCNDBP1	cis	multi-tissue	Pritchard

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43182800-43207000	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr15:43183200-43211600	Weak transcription	Left Ventricle	heart
3	chr15:43183800-43207200	Weak transcription	Ovary	ovary
4	chr15:43184200-43207400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr15:43185600-43207000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr15:43187000-43207600	Weak transcription	Primary B cells from cord blood	blood
7	chr15:43187000-43211600	Weak transcription	Fetal Muscle Leg	muscle
8	chr15:43187200-43210600	Weak transcription	Primary T cells from cord blood	blood
9	chr15:43187400-43206600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr15:43189200-43211600	Weak transcription	Fetal Intestine Small	intestine
11	chr15:43196000-43211600	Weak transcription	Small Intestine	intestine
12	chr15:43196200-43205400	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr15:43196200-43206200	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr15:43196200-43207000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr15:43196200-43211400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr15:43196400-43207000	Weak transcription	Brain Hippocampus Middle	brain
17	chr15:43196400-43207400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr15:43196400-43211600	Weak transcription	Right Atrium	heart
19	chr15:43196400-43211600	Weak transcription	Right Ventricle	heart
20	chr15:43196600-43211800	Weak transcription	Fetal Stomach	stomach
21	chr15:43201000-43211600	Weak transcription	Aorta	Aorta
22	chr15:43201600-43207400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr15:43201600-43210400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr15:43201800-43207200	Weak transcription	K562	blood
25	chr15:43201800-43210400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr15:43201800-43210400	Weak transcription	NHEK	skin
27	chr15:43202200-43204200	Enhancers	Fetal Heart	heart
28	chr15:43202200-43207000	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr15:43202200-43211600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr15:43203200-43206400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr15:43203200-43207000	Weak transcription	Brain Angular Gyrus	brain
32	chr15:43203400-43203800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr15:43203400-43203800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr15:43203400-43203800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr15:43203400-43203800	Enhancers	Placenta	Placenta
36	chr15:43203400-43203800	Enhancers	Pancreas	Pancrea
37	chr15:43203400-43203800	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr15:43203400-43203800	Enhancers	Spleen	Spleen
39	chr15:43203400-43203800	Enhancers	HMEC	breast
40	chr15:43203400-43203800	Enhancers	NHDF-Ad	bronchial
41	chr15:43203400-43204400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr15:43203400-43207200	Weak transcription	Thymus	Thymus
43	chr15:43203600-43204000	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr15:43203600-43207000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr15:43203600-43208200	Weak transcription	Psoas Muscle	Psoas

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