Variant report

Variant	rs2042742
Chromosome Location	chr15:43443392-43443393
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:43392607..43394491-chr15:43442865..43444779,2	K562	blood:
2	chr15:43426566..43429300-chr15:43440939..43443897,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11070391	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11070396	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11070397	0.83[EUR][1000 genomes]
rs11070398	0.91[EUR][1000 genomes]
rs11855754	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12592725	0.94[EUR][1000 genomes]
rs12899266	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16957511	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1834643	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2241516	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28756768	0.92[EUR][1000 genomes]
rs2899077	0.92[EUR][1000 genomes]
rs2947019	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34646108	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3784267	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3784268	0.94[EUR][1000 genomes]
rs4924709	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs494863	0.94[EUR][1000 genomes]
rs495286	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs497138	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs499280	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs530305	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs531850	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs538218	0.94[EUR][1000 genomes]
rs540587	0.98[EUR][1000 genomes]
rs6493078	0.90[ASN][1000 genomes]
rs7174915	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7183814	0.92[EUR][1000 genomes]
rs8027371	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[ASN][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
rs2042742	CCNDBP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:114 , 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	chr15:43429400-43444400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr15:43432200-43446400	Weak transcription	Small Intestine	intestine
8	chr15:43433200-43460600	Weak transcription	Right Ventricle	heart
9	chr15:43433400-43443600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr15:43433400-43446000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr15:43433400-43446000	Weak transcription	Ovary	ovary
12	chr15:43433400-43451800	Weak transcription	Esophagus	oesophagus
13	chr15:43433400-43452600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr15:43433400-43460400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr15:43433400-43460400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr15:43433400-43460400	Weak transcription	Spleen	Spleen
17	chr15:43433400-43460600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr15:43433400-43460600	Weak transcription	Gastric	stomach
19	chr15:43433400-43467600	Weak transcription	HSMM	muscle
20	chr15:43433600-43444600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr15:43433600-43445400	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr15:43433600-43447000	Weak transcription	Fetal Stomach	stomach
23	chr15:43433600-43447800	Weak transcription	Brain Substantia Nigra	brain
24	chr15:43433600-43460400	Weak transcription	Pancreas	Pancrea
25	chr15:43433600-43460400	Weak transcription	Thymus	Thymus
26	chr15:43433800-43451600	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr15:43434000-43445600	Weak transcription	Brain Hippocampus Middle	brain
28	chr15:43434000-43460400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr15:43435000-43452200	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr15:43435400-43447000	Weak transcription	Fetal Intestine Small	intestine
31	chr15:43437000-43443600	Weak transcription	Primary T cells from cord blood	blood
32	chr15:43437000-43443600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr15:43437000-43443600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr15:43437000-43443600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr15:43437000-43460400	Weak transcription	K562	blood
36	chr15:43437000-43467200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr15:43437200-43462000	Weak transcription	Dnd41	blood
38	chr15:43438000-43444400	Strong transcription	Primary B cells from cord blood	blood
39	chr15:43438000-43444800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr15:43438000-43450000	Strong transcription	Duodenum Mucosa	Duodenum
41	chr15:43438000-43457600	Strong transcription	Liver	Liver
42	chr15:43438000-43457800	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr15:43438000-43458400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr15:43438000-43458400	Strong transcription	Primary B cells from peripheral blood	blood
45	chr15:43438000-43458400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr15:43438000-43458400	Strong transcription	Adipose Nuclei	Adipose
47	chr15:43438000-43458600	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr15:43438200-43443600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr15:43438200-43444200	Strong transcription	Stomach Smooth Muscle	stomach
50	chr15:43438200-43447800	Strong transcription	Primary hematopoietic stem cells	blood

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