Variant report

Variant	rs8030850
Chromosome Location	chr15:43444895-43444896
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:43444330..43446650-chr15:43448023..43450636,2	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:55)

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	0.87[ASW][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.94[YRI][hapmap];0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10438267	1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1078243	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11504654	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11504655	0.82[AFR][1000 genomes];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]
rs12900188	1.00[TSI][hapmap]
rs1474199	0.87[ASW][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[YRI][hapmap];0.91[AFR][1000 genomes];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[JPT][hapmap];0.84[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16957502	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.87[YRI][hapmap];0.80[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16957507	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	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2271965	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]
rs28444219	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28539201	1.00[EUR][1000 genomes]
rs3177296	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34222269	0.80[AFR][1000 genomes];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	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	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61268760	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61343376	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61711558	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7162620	1.00[EUR][1000 genomes]
rs7162971	0.94[YRI][hapmap];0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7171797	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7176183	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7182063	1.00[TSI][hapmap]
rs7182685	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7183024	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8035881	1.00[GIH][hapmap];1.00[EUR][1000 genomes]
rs8039342	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8040769	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[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];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:11 , 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	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
4	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
5	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
6	nsv569242	chr15:43210030-43445305	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	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
11	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
rs8030850	CCNDBP1	cis	multi-tissue	Pritchard

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43426800-43455800	Weak transcription	Fetal Lung	lung
2	chr15:43426800-43465400	Weak transcription	Psoas Muscle	Psoas
3	chr15:43427600-43475000	Weak transcription	Stomach Mucosa	stomach
4	chr15:43427800-43448400	Weak transcription	Fetal Kidney	kidney
5	chr15:43428000-43445600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr15:43432200-43446400	Weak transcription	Small Intestine	intestine
7	chr15:43433200-43460600	Weak transcription	Right Ventricle	heart
8	chr15:43433400-43446000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr15:43433400-43446000	Weak transcription	Ovary	ovary
10	chr15:43433400-43451800	Weak transcription	Esophagus	oesophagus
11	chr15:43433400-43452600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr15:43433400-43460400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr15:43433400-43460400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr15:43433400-43460400	Weak transcription	Spleen	Spleen
15	chr15:43433400-43460600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr15:43433400-43460600	Weak transcription	Gastric	stomach
17	chr15:43433400-43467600	Weak transcription	HSMM	muscle
18	chr15:43433600-43445400	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr15:43433600-43447000	Weak transcription	Fetal Stomach	stomach
20	chr15:43433600-43447800	Weak transcription	Brain Substantia Nigra	brain
21	chr15:43433600-43460400	Weak transcription	Pancreas	Pancrea
22	chr15:43433600-43460400	Weak transcription	Thymus	Thymus
23	chr15:43433800-43451600	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr15:43434000-43445600	Weak transcription	Brain Hippocampus Middle	brain
25	chr15:43434000-43460400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr15:43435000-43452200	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr15:43435400-43447000	Weak transcription	Fetal Intestine Small	intestine
28	chr15:43437000-43460400	Weak transcription	K562	blood
29	chr15:43437000-43467200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr15:43437200-43462000	Weak transcription	Dnd41	blood
31	chr15:43438000-43450000	Strong transcription	Duodenum Mucosa	Duodenum
32	chr15:43438000-43457600	Strong transcription	Liver	Liver
33	chr15:43438000-43457800	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr15:43438000-43458400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr15:43438000-43458400	Strong transcription	Primary B cells from peripheral blood	blood
36	chr15:43438000-43458400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr15:43438000-43458400	Strong transcription	Adipose Nuclei	Adipose
38	chr15:43438000-43458600	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr15:43438200-43447800	Strong transcription	Primary hematopoietic stem cells	blood
40	chr15:43438200-43448600	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr15:43438200-43448800	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr15:43438400-43457600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr15:43438600-43449000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr15:43438600-43452200	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr15:43438800-43445200	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr15:43439000-43445600	Weak transcription	Colon Smooth Muscle	Colon
47	chr15:43440000-43449400	Strong transcription	Fetal Intestine Large	intestine
48	chr15:43440200-43445200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr15:43440200-43453000	Weak transcription	Fetal Brain Female	brain
50	chr15:43440800-43476800	Weak transcription	Fetal Brain Male	brain

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