Variant report

Variant	rs10471510
Chromosome Location	chr5:60573487-60573488
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:60560892..60563443-chr5:60571695..60574490,2	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10037643	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10052765	0.83[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10062338	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10065444	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10071763	0.95[ASN][1000 genomes]
rs10434526	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10461467	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10939888	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10939890	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10939892	1.00[CHB][hapmap];0.82[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10939893	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12189426	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12518152	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12523278	0.83[CHB][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs12696979	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12696980	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13175564	1.00[CHB][hapmap];0.81[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs34439016	0.99[ASN][1000 genomes]
rs35310874	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4129437	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4400074	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4441832	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4540126	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4699974	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4699975	0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6864367	0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6867268	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6867417	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6885499	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6892128	0.88[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.80[AFR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7448844	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7737448	0.94[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9291718	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034038	chr5:60375328-60607654	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv1028884	chr5:60414723-60732779	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv823088	chr5:60572580-60577406	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv441955	chr5:60573147-60576860	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10471510	DEPDC1B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60564600-60575400	Weak transcription	Fetal Intestine Small	intestine
2	chr5:60564600-60576000	Weak transcription	Psoas Muscle	Psoas
3	chr5:60566600-60573800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr5:60567800-60577200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr5:60569000-60574000	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr5:60569200-60574600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr5:60569400-60574000	Enhancers	Primary B cells from cord blood	blood
8	chr5:60570000-60573800	Enhancers	NHLF	lung
9	chr5:60570800-60573600	Enhancers	Primary hematopoietic stem cells	blood
10	chr5:60570800-60573800	Enhancers	A549	lung
11	chr5:60570800-60574400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr5:60571000-60573600	Enhancers	Primary B cells from peripheral blood	blood
13	chr5:60571000-60573800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:60571000-60574400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr5:60571000-60574400	Enhancers	NHEK	skin
16	chr5:60571200-60573600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr5:60571200-60573600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr5:60571200-60573600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr5:60571200-60573800	Enhancers	HMEC	breast
20	chr5:60571200-60574400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr5:60571200-60576600	Weak transcription	Pancreas	Pancrea
22	chr5:60571600-60574600	Weak transcription	Small Intestine	intestine
23	chr5:60571800-60574600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr5:60571800-60583800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr5:60572000-60574000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr5:60572000-60577000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr5:60572000-60582400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:60572400-60573800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:60572600-60573600	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr5:60572600-60573600	Weak transcription	Lung	lung
31	chr5:60572600-60574000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr5:60572800-60573600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:60572800-60573600	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr5:60572800-60573600	Enhancers	GM12878-XiMat	blood
35	chr5:60572800-60573800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr5:60572800-60574000	Enhancers	Fetal Thymus	thymus
37	chr5:60572800-60574200	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr5:60573000-60573600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr5:60573000-60573600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:60573000-60573600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr5:60573000-60573600	Enhancers	Stomach Mucosa	stomach
42	chr5:60573000-60573600	Enhancers	Thymus	Thymus
43	chr5:60573000-60573600	Flanking Active TSS	Osteobl	bone
44	chr5:60573000-60574000	Enhancers	Primary T cells fromperipheralblood	blood
45	chr5:60573000-60574600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr5:60573200-60573600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr5:60573200-60573600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr5:60573200-60573600	Enhancers	Primary T cells from cord blood	blood
49	chr5:60573200-60573600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr5:60573200-60573600	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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