Variant report

Variant	rs11070380
Chromosome Location	chr15:43123671-43123672
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:43121973..43125936-chr15:43126193..43128701,3	K562	blood:
2	chr15:43117816..43119740-chr15:43122004..43123832,2	MCF-7	breast:
3	chr15:43123371..43125082-chr15:43125965..43128701,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10467975	1.00[CEU][hapmap];0.92[JPT][hapmap];0.90[YRI][hapmap];0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11070377	0.81[ASN][1000 genomes]
rs11070382	1.00[CEU][hapmap];0.83[CHB][hapmap];0.93[JPT][hapmap];0.85[YRI][hapmap];0.82[AFR][1000 genomes]
rs11070386	1.00[CEU][hapmap];0.87[JPT][hapmap]
rs11630595	1.00[CEU][hapmap];0.87[JPT][hapmap]
rs11632809	0.81[ASN][1000 genomes]
rs11853250	0.88[CEU][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11854550	0.94[CHB][hapmap]
rs12594600	0.81[YRI][hapmap]
rs16957165	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16957167	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs16957244	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.84[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs16957250	1.00[CEU][hapmap];0.85[JPT][hapmap]
rs16957264	0.88[CEU][hapmap];0.92[JPT][hapmap]
rs2682073	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.89[ASN][1000 genomes]
rs34302400	0.81[ASN][1000 genomes]
rs35554267	0.81[ASN][1000 genomes]
rs3736054	0.88[CHB][hapmap];0.86[JPT][hapmap]
rs3803341	1.00[CEU][hapmap];0.93[JPT][hapmap]
rs4573908	1.00[CEU][hapmap];0.87[JPT][hapmap]
rs4923955	1.00[CEU][hapmap];0.81[JPT][hapmap]
rs55805543	0.84[AFR][1000 genomes]
rs55927779	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6493065	0.81[YRI][hapmap]
rs6493076	1.00[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap]
rs66530524	0.93[ASN][1000 genomes]
rs67920450	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7174028	1.00[CEU][hapmap];0.83[CHB][hapmap];0.93[JPT][hapmap]
rs7178567	1.00[CEU][hapmap];0.88[CHB][hapmap];0.93[JPT][hapmap]
rs7181238	0.94[CHB][hapmap]
rs8027733	1.00[CEU][hapmap];0.86[JPT][hapmap]
rs8028699	0.81[YRI][hapmap]
rs8031767	1.00[CEU][hapmap];0.85[JPT][hapmap];0.85[YRI][hapmap]
rs8037022	1.00[CEU][hapmap];0.93[JPT][hapmap]
rs8042481	1.00[CEU][hapmap];0.81[JPT][hapmap]
rs9920092	0.94[CHB][hapmap];0.81[ASN][1000 genomes]
rs9920562	0.94[CHB][hapmap];0.81[ASN][1000 genomes]
rs9920624	0.94[CHB][hapmap];0.81[ASN][1000 genomes]
rs9920935	0.94[CHB][hapmap];0.81[ASN][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	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11070380	CCNDBP1	cis	multi-tissue	Pritchard
rs11070380	CCNDBP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43054800-43146000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr15:43063400-43136200	Weak transcription	Psoas Muscle	Psoas
3	chr15:43064800-43150800	Weak transcription	HSMM	muscle
4	chr15:43067400-43147200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr15:43075200-43143800	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr15:43075400-43135800	Weak transcription	HSMMtube	muscle
7	chr15:43075600-43150800	Weak transcription	Colon Smooth Muscle	Colon
8	chr15:43075800-43124800	Weak transcription	Hela-S3	cervix
9	chr15:43075800-43134800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr15:43075800-43159200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr15:43089800-43165200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr15:43091800-43135400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr15:43093000-43124600	Weak transcription	Small Intestine	intestine
14	chr15:43094400-43163800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr15:43094600-43150800	Weak transcription	Aorta	Aorta
16	chr15:43094800-43124800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr15:43095000-43165000	Weak transcription	Spleen	Spleen
18	chr15:43095200-43130600	Weak transcription	Thymus	Thymus
19	chr15:43095600-43124600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr15:43095600-43136000	Weak transcription	Fetal Brain Female	brain
21	chr15:43095800-43130800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr15:43095800-43130800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr15:43095800-43139000	Weak transcription	Esophagus	oesophagus
24	chr15:43096000-43130600	Weak transcription	Ovary	ovary
25	chr15:43096000-43133800	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr15:43096000-43135600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr15:43096000-43136000	Weak transcription	Fetal Muscle Leg	muscle
28	chr15:43096200-43136000	Weak transcription	Lung	lung
29	chr15:43097200-43131200	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr15:43103000-43123800	Weak transcription	Right Ventricle	heart
31	chr15:43103000-43124800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr15:43103000-43131200	Weak transcription	Brain Cingulate Gyrus	brain
33	chr15:43103000-43131200	Weak transcription	Dnd41	blood
34	chr15:43103000-43133400	Weak transcription	Brain Substantia Nigra	brain
35	chr15:43103000-43134600	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr15:43103000-43136000	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr15:43103000-43165400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr15:43103200-43130400	Weak transcription	Fetal Muscle Trunk	muscle
39	chr15:43103200-43138400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr15:43103400-43130200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr15:43103400-43133800	Weak transcription	Duodenum Mucosa	Duodenum
42	chr15:43103400-43136000	Weak transcription	Brain Hippocampus Middle	brain
43	chr15:43103400-43173200	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr15:43103800-43131200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr15:43104400-43130200	Weak transcription	Left Ventricle	heart
46	chr15:43104400-43130400	Weak transcription	Brain Germinal Matrix	brain
47	chr15:43106000-43136000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr15:43106200-43142000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr15:43106600-43130200	Weak transcription	Fetal Intestine Small	intestine
50	chr15:43107400-43134400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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