Variant report

Variant	rs8032994
Chromosome Location	chr15:43103765-43103766
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:43102804..43105030-chr15:43109590..43112345,2	K562	blood:
2	chr15:43102804..43105292-chr15:43108115..43111090,2	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10220713	0.89[CHB][hapmap];0.89[JPT][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10220718	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10220726	1.00[GIH][hapmap];1.00[EUR][1000 genomes]
rs10220875	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.86[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10438302	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11070381	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11070384	1.00[EUR][1000 genomes]
rs11504666	1.00[EUR][1000 genomes]
rs12324135	0.81[JPT][hapmap]
rs1317628	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13379871	1.00[EUR][1000 genomes]
rs13380157	1.00[EUR][1000 genomes]
rs13380212	1.00[EUR][1000 genomes]
rs13380301	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16956991	1.00[EUR][1000 genomes]
rs16957002	1.00[EUR][1000 genomes]
rs16957043	0.81[JPT][hapmap]
rs16957052	1.00[MEX][hapmap]
rs16957125	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16957138	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16957164	1.00[EUR][1000 genomes]
rs16957178	1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs16957185	1.00[EUR][1000 genomes]
rs16957187	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16957201	1.00[EUR][1000 genomes]
rs16957224	0.92[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[YRI][hapmap];0.90[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs16957292	1.00[EUR][1000 genomes]
rs16973395	1.00[EUR][1000 genomes]
rs1877137	1.00[EUR][1000 genomes]
rs1877138	1.00[EUR][1000 genomes]
rs1915243	0.90[JPT][hapmap]
rs2054388	1.00[EUR][1000 genomes]
rs28535059	1.00[EUR][1000 genomes]
rs34348991	0.87[ASN][1000 genomes]
rs34436896	1.00[EUR][1000 genomes]
rs35584827	1.00[EUR][1000 genomes]
rs56894749	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57880396	1.00[EUR][1000 genomes]
rs58506324	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs58754188	0.96[ASN][1000 genomes]
rs58756153	0.96[ASN][1000 genomes]
rs59276064	1.00[EUR][1000 genomes]
rs60752181	0.89[ASN][1000 genomes]
rs60789298	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60807675	0.87[ASN][1000 genomes]
rs60832391	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60881935	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61682243	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6493058	1.00[MEX][hapmap]
rs7162040	1.00[JPT][hapmap];1.00[MEX][hapmap]
rs7163324	1.00[JPT][hapmap];1.00[MEX][hapmap]
rs7164041	0.92[ASW][hapmap];1.00[EUR][1000 genomes]
rs7165249	0.81[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7174661	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7175062	1.00[EUR][1000 genomes]
rs7177501	1.00[ASW][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7181448	1.00[MEX][hapmap]
rs8023743	0.81[JPT][hapmap]
rs8027319	1.00[JPT][hapmap];1.00[MEX][hapmap]
rs8031111	1.00[EUR][1000 genomes]
rs8039217	1.00[JPT][hapmap];1.00[MEX][hapmap]
rs8039346	1.00[JPT][hapmap]
rs8039438	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs8043143	0.81[JPT][hapmap]
rs9806161	1.00[EUR][1000 genomes]
rs9806313	0.92[ASW][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528725	chr15:42755555-43104406	Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	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
3	nsv977054	chr15:43015821-43171355	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8032994	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	chr15:43053600-43112200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr15:43054800-43146000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr15:43056800-43116800	Weak transcription	HepG2	liver
4	chr15:43057600-43107000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr15:43060800-43122200	Weak transcription	GM12878-XiMat	blood
6	chr15:43063400-43136200	Weak transcription	Psoas Muscle	Psoas
7	chr15:43064000-43114200	Weak transcription	Fetal Kidney	kidney
8	chr15:43064800-43150800	Weak transcription	HSMM	muscle
9	chr15:43067400-43147200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr15:43075200-43143800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr15:43075400-43135800	Weak transcription	HSMMtube	muscle
12	chr15:43075600-43150800	Weak transcription	Colon Smooth Muscle	Colon
13	chr15:43075800-43117200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr15:43075800-43119200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr15:43075800-43124800	Weak transcription	Hela-S3	cervix
16	chr15:43075800-43134800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr15:43075800-43159200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr15:43089400-43104000	Weak transcription	NHDF-Ad	bronchial
19	chr15:43089400-43105800	Weak transcription	Osteobl	bone
20	chr15:43089600-43118400	Weak transcription	HMEC	breast
21	chr15:43089800-43165200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr15:43091800-43135400	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr15:43092600-43105000	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr15:43093000-43111800	Weak transcription	Fetal Heart	heart
25	chr15:43093000-43124600	Weak transcription	Small Intestine	intestine
26	chr15:43094400-43104400	Weak transcription	NHLF	lung
27	chr15:43094400-43118000	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr15:43094400-43118000	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr15:43094400-43163800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr15:43094600-43111400	Weak transcription	Pancreas	Pancrea
31	chr15:43094600-43115800	Weak transcription	Colonic Mucosa	Colon
32	chr15:43094600-43150800	Weak transcription	Aorta	Aorta
33	chr15:43094800-43105400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr15:43094800-43105400	Weak transcription	Fetal Intestine Small	intestine
35	chr15:43094800-43112400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr15:43094800-43124800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr15:43095000-43119400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr15:43095000-43165000	Weak transcription	Spleen	Spleen
39	chr15:43095200-43118400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr15:43095200-43120000	Weak transcription	Fetal Thymus	thymus
41	chr15:43095200-43130600	Weak transcription	Thymus	Thymus
42	chr15:43095600-43118400	Weak transcription	NHEK	skin
43	chr15:43095600-43124600	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr15:43095600-43136000	Weak transcription	Fetal Brain Female	brain
45	chr15:43095800-43105400	Weak transcription	Fetal Stomach	stomach
46	chr15:43095800-43130800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr15:43095800-43130800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr15:43095800-43139000	Weak transcription	Esophagus	oesophagus
49	chr15:43096000-43130600	Weak transcription	Ovary	ovary
50	chr15:43096000-43133800	Weak transcription	Skeletal Muscle Male	skeletal muscle

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