Variant report

Variant	rs11070391
Chromosome Location	chr15:43433603-43433604
allele	C/G
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	POLR2A	chr15:43431371-43433725	GM12878	blood:	n/a	n/a
2	POLR2A	chr15:43432184-43434240	GM12892	blood:	n/a	n/a
3	POLR2A	chr15:43431347-43433744	GM12878	blood:	n/a	n/a
4	POLR2A	chr15:43431725-43434446	GM12891	blood:	n/a	n/a
5	POLR2A	chr15:43432384-43434315	GM12892	blood:	n/a	n/a
6	POLR2A	chr15:43432220-43434196	GM12892	blood:	n/a	n/a
7	POLR2A	chr15:43432571-43433872	GM12891	blood:	n/a	n/a
8	POLR2A	chr15:43431787-43434290	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:43424687..43428034-chr15:43433131..43438698,7	K562	blood:
2	chr15:43425606..43428403-chr15:43431821..43436252,4	K562	blood:
3	chr15:43339146..43340895-chr15:43431393..43434266,2	K562	blood:

Variant related genes	Relation type
TMEM62	TF binding region
ENSG00000137842	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11070386	1.00[CEU][hapmap];0.81[JPT][hapmap]
rs11070396	0.89[CEU][hapmap];0.87[JPT][hapmap];0.89[EUR][1000 genomes]
rs11070398	0.86[EUR][1000 genomes]
rs11630595	1.00[CEU][hapmap];0.81[JPT][hapmap]
rs11855754	0.90[CEU][hapmap];0.88[JPT][hapmap];0.88[EUR][1000 genomes]
rs12592725	0.89[CEU][hapmap];0.82[JPT][hapmap];0.89[EUR][1000 genomes]
rs12899266	1.00[CEU][hapmap];0.94[JPT][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1462856	1.00[CEU][hapmap]
rs16957511	0.89[CEU][hapmap];0.87[JPT][hapmap];0.86[EUR][1000 genomes]
rs1834643	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2037392	0.82[CEU][hapmap]
rs2042742	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2241516	0.90[CEU][hapmap];0.88[JPT][hapmap];0.89[EUR][1000 genomes]
rs2412751	0.81[YRI][hapmap]
rs28585036	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap]
rs28756768	0.88[EUR][1000 genomes]
rs2899077	0.89[CEU][hapmap];0.82[JPT][hapmap];0.88[EUR][1000 genomes]
rs2947019	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34646108	0.89[EUR][1000 genomes]
rs3784267	0.89[EUR][1000 genomes]
rs3784268	0.89[EUR][1000 genomes]
rs3803341	1.00[CEU][hapmap]
rs4573908	1.00[CEU][hapmap];0.81[JPT][hapmap]
rs4923955	1.00[CEU][hapmap]
rs4924704	1.00[CEU][hapmap]
rs4924709	0.88[AMR][1000 genomes]
rs494863	0.89[CEU][hapmap];0.82[JPT][hapmap];0.89[EUR][1000 genomes]
rs495286	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs497138	0.89[CEU][hapmap];0.88[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs499280	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs530305	0.89[CEU][hapmap];0.87[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs531850	0.90[CEU][hapmap];0.88[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs538218	0.89[CEU][hapmap];0.82[JPT][hapmap];0.95[EUR][1000 genomes]
rs540587	1.00[CEU][hapmap];0.83[JPT][hapmap];0.94[EUR][1000 genomes]
rs6493076	1.00[CEU][hapmap]
rs6493077	1.00[CEU][hapmap]
rs7174915	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7178567	1.00[CEU][hapmap]
rs7183814	0.89[CEU][hapmap];0.82[JPT][hapmap];0.88[EUR][1000 genomes]
rs8027371	0.80[CEU][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs8027733	1.00[CEU][hapmap]
rs8037022	1.00[CEU][hapmap]
rs8042481	1.00[CEU][hapmap]

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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11070391	CCNDBP1	Cis_1M	lymphoblastoid	RTeQTL
rs11070391	CCNDBP1	cis	multi-tissue	Pritchard

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43426600-43442200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr15:43426800-43436400	Weak transcription	Primary T cells from cord blood	blood
3	chr15:43426800-43455800	Weak transcription	Fetal Lung	lung
4	chr15:43426800-43465400	Weak transcription	Psoas Muscle	Psoas
5	chr15:43427000-43440600	Weak transcription	Fetal Heart	heart
6	chr15:43427000-43442200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr15:43427000-43442200	Weak transcription	NH-A	brain
8	chr15:43427200-43436200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr15:43427200-43436400	Weak transcription	K562	blood
10	chr15:43427600-43434200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr15:43427600-43434400	Strong transcription	Primary B cells from cord blood	blood
12	chr15:43427600-43475000	Weak transcription	Stomach Mucosa	stomach
13	chr15:43427800-43434000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr15:43427800-43434600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr15:43427800-43435000	Strong transcription	Primary B cells from peripheral blood	blood
16	chr15:43427800-43435600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr15:43427800-43435600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr15:43427800-43448400	Weak transcription	Fetal Kidney	kidney
19	chr15:43428000-43433800	Strong transcription	Duodenum Smooth Muscle	Duodenum
20	chr15:43428000-43445600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr15:43428200-43433800	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr15:43428200-43434000	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr15:43428200-43434200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr15:43428400-43433800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr15:43428400-43433800	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr15:43428400-43434000	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr15:43428400-43434200	Strong transcription	Duodenum Mucosa	Duodenum
28	chr15:43428400-43434200	Strong transcription	Fetal Intestine Large	intestine
29	chr15:43428400-43435200	Strong transcription	Liver	Liver
30	chr15:43428600-43434200	Strong transcription	Adipose Nuclei	Adipose
31	chr15:43428800-43433800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr15:43428800-43433800	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr15:43428800-43434000	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr15:43428800-43434000	Strong transcription	Placenta	Placenta
35	chr15:43428800-43434200	Strong transcription	Stomach Smooth Muscle	stomach
36	chr15:43429000-43433800	Strong transcription	Skeletal Muscle Male	skeletal muscle
37	chr15:43429000-43434000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr15:43429000-43434000	Strong transcription	Brain Hippocampus Middle	brain
39	chr15:43429000-43434000	Strong transcription	Skeletal Muscle Female	skeletal muscle
40	chr15:43429000-43436800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr15:43429200-43434000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr15:43429200-43434200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr15:43429200-43435000	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr15:43429400-43444400	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr15:43429600-43434000	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr15:43429600-43434000	Strong transcription	Brain Germinal Matrix	brain
47	chr15:43429600-43434400	Strong transcription	Colon Smooth Muscle	Colon
48	chr15:43429800-43433800	Strong transcription	Brain Inferior Temporal Lobe	brain
49	chr15:43429800-43433800	Strong transcription	Rectal Smooth Muscle	rectum
50	chr15:43429800-43435800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain

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