Variant report

Variant	rs1834643
Chromosome Location	chr15:43450203-43450204
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:43446385..43448326-chr15:43449047..43450584,2	K562	blood:
2	chr15:43425638..43427736-chr15:43448259..43452147,3	K562	blood:
3	chr15:43444330..43446650-chr15:43448023..43450636,2	K562	blood:
4	chr15:43449177..43451905-chr15:43470408..43473306,2	K562	blood:

Variant related genes	Relation type
ENSG00000166947	Chromatin interaction
ENSG00000137842	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11070391	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11070396	0.92[EUR][1000 genomes]
rs11070397	0.82[EUR][1000 genomes]
rs11070398	0.89[EUR][1000 genomes]
rs11855754	0.91[EUR][1000 genomes]
rs12592725	0.92[EUR][1000 genomes]
rs12899266	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16957511	0.89[EUR][1000 genomes]
rs2042742	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2241516	0.92[EUR][1000 genomes]
rs28756768	0.91[EUR][1000 genomes]
rs2899077	0.91[EUR][1000 genomes]
rs2947019	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34646108	0.92[EUR][1000 genomes]
rs3784267	0.92[EUR][1000 genomes]
rs3784268	0.92[EUR][1000 genomes]
rs4924709	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs494863	0.92[EUR][1000 genomes]
rs495286	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs497138	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs499280	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs530305	0.97[EUR][1000 genomes]
rs531850	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs538218	0.92[EUR][1000 genomes]
rs540587	0.97[EUR][1000 genomes]
rs7174915	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7183814	0.91[EUR][1000 genomes]
rs8027371	0.94[AFR][1000 genomes];0.85[AMR][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
rs1834643	CCNDBP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:109 , 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	chr15:43433200-43460600	Weak transcription	Right Ventricle	heart
5	chr15:43433400-43451800	Weak transcription	Esophagus	oesophagus
6	chr15:43433400-43452600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr15:43433400-43460400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr15:43433400-43460400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr15:43433400-43460400	Weak transcription	Spleen	Spleen
10	chr15:43433400-43460600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr15:43433400-43460600	Weak transcription	Gastric	stomach
12	chr15:43433400-43467600	Weak transcription	HSMM	muscle
13	chr15:43433600-43460400	Weak transcription	Pancreas	Pancrea
14	chr15:43433600-43460400	Weak transcription	Thymus	Thymus
15	chr15:43433800-43451600	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr15:43434000-43460400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr15:43435000-43452200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr15:43437000-43460400	Weak transcription	K562	blood
19	chr15:43437000-43467200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr15:43437200-43462000	Weak transcription	Dnd41	blood
21	chr15:43438000-43457600	Strong transcription	Liver	Liver
22	chr15:43438000-43457800	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr15:43438000-43458400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr15:43438000-43458400	Strong transcription	Primary B cells from peripheral blood	blood
25	chr15:43438000-43458400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr15:43438000-43458400	Strong transcription	Adipose Nuclei	Adipose
27	chr15:43438000-43458600	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr15:43438400-43457600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr15:43438600-43452200	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr15:43440200-43453000	Weak transcription	Fetal Brain Female	brain
31	chr15:43440800-43476800	Weak transcription	Fetal Brain Male	brain
32	chr15:43441800-43477200	Weak transcription	HSMMtube	muscle
33	chr15:43442000-43452400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr15:43442000-43461200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr15:43442000-43476800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr15:43442600-43460600	Weak transcription	NHLF	lung
37	chr15:43442800-43460400	Weak transcription	NH-A	brain
38	chr15:43442800-43460600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr15:43443000-43460600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr15:43443000-43467600	Weak transcription	Aorta	Aorta
41	chr15:43443200-43452600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr15:43443200-43460800	Weak transcription	Colonic Mucosa	Colon
43	chr15:43443200-43460800	Weak transcription	HUVEC	blood vessel
44	chr15:43443400-43460400	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr15:43443800-43450600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr15:43444200-43451200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr15:43444400-43452800	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr15:43444600-43450600	Strong transcription	Brain Inferior Temporal Lobe	brain
49	chr15:43444600-43477200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr15:43444800-43465400	Weak transcription	Brain Germinal Matrix	brain

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