Variant report

Variant	rs10052503
Chromosome Location	chr5:95283658-95283659
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	chr5:95276300..95278479-chr5:95281336..95283679,2	MCF-7	breast:
2	chr5:95282858..95287226-chr5:95287357..95291460,4	MCF-7	breast:

Extended variants
information (count: 89 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10069748	0.91[CHB][hapmap];0.90[JPT][hapmap];0.84[YRI][hapmap]
rs10073752	1.00[CEU][hapmap];0.91[CHB][hapmap];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1043381	0.86[YRI][hapmap]
rs10515232	1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[EUR][1000 genomes]
rs1057963	0.91[CHB][hapmap]
rs1057964	0.91[CHB][hapmap];0.90[JPT][hapmap];0.84[YRI][hapmap]
rs11738945	0.80[EUR][1000 genomes]
rs11741590	0.91[CHB][hapmap];0.90[JPT][hapmap];0.88[YRI][hapmap]
rs11742959	0.80[EUR][1000 genomes]
rs11744881	0.91[CHB][hapmap]
rs12055262	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1423268	0.92[CHB][hapmap];0.90[JPT][hapmap];0.86[YRI][hapmap]
rs1423269	0.91[CHB][hapmap]
rs1458017	0.91[CHB][hapmap];0.90[JPT][hapmap]
rs1458018	0.91[CHB][hapmap];0.90[JPT][hapmap];0.84[YRI][hapmap]
rs147295	0.84[YRI][hapmap]
rs17085249	0.91[CHB][hapmap]
rs17085333	1.00[CEU][hapmap];0.91[CHB][hapmap];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1841010	0.92[CHB][hapmap];0.90[JPT][hapmap];0.82[YRI][hapmap]
rs1862313	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2042340	0.91[CHB][hapmap]
rs2112566	0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2161318	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2270554	0.91[CHB][hapmap];0.90[JPT][hapmap];0.84[YRI][hapmap]
rs2348984	0.95[CHB][hapmap];0.89[JPT][hapmap];0.85[YRI][hapmap]
rs2546199	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2548594	0.91[CHB][hapmap];0.90[JPT][hapmap];0.88[YRI][hapmap]
rs3734131	0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3756703	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3777162	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3777163	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3777164	0.83[EUR][1000 genomes]
rs3777165	1.00[CEU][hapmap];0.91[CHB][hapmap];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3777166	1.00[CEU][hapmap];0.91[CHB][hapmap];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3777167	0.84[CEU][hapmap];0.84[YRI][hapmap];0.84[EUR][1000 genomes]
rs3777168	0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3777171	1.00[CEU][hapmap];0.91[CHB][hapmap];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3777173	1.00[CEU][hapmap];0.91[CHB][hapmap];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3777175	1.00[CEU][hapmap];0.91[CHB][hapmap];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3777178	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3777179	0.88[CEU][hapmap];0.91[CHB][hapmap];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3777183	0.83[CHB][hapmap]
rs3777184	0.91[CHB][hapmap]
rs3777185	0.91[CHB][hapmap]
rs3777188	0.91[CHB][hapmap]
rs3777189	0.91[CHB][hapmap]
rs3777190	0.91[CHB][hapmap]
rs3777193	0.91[CHB][hapmap];0.89[JPT][hapmap]
rs3777194	0.91[CHB][hapmap];0.90[JPT][hapmap];0.84[YRI][hapmap]
rs3777196	0.91[CHB][hapmap];0.90[JPT][hapmap];0.80[YRI][hapmap]
rs3777200	0.91[CHB][hapmap]
rs3777204	0.92[CHB][hapmap];0.90[JPT][hapmap];0.85[YRI][hapmap]
rs3815768	0.91[CHB][hapmap]
rs3822750	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4538631	0.82[CHB][hapmap]
rs4563648	0.83[ASN][1000 genomes]
rs4642392	0.91[CHB][hapmap];0.90[JPT][hapmap];0.84[YRI][hapmap]
rs55841351	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56002885	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57243277	0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57595413	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58921760	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59307279	0.93[EUR][1000 genomes]
rs6556894	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6861531	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6877821	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6879652	0.85[YRI][hapmap]
rs6881355	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6881872	1.00[CEU][hapmap];0.91[CHB][hapmap];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6883880	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6885567	0.92[CHB][hapmap];0.90[JPT][hapmap];0.86[YRI][hapmap]
rs6889029	0.91[CHB][hapmap]
rs6894651	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6897997	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6898371	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6898399	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72656689	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7700895	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7705279	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7705720	0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7716691	0.91[YRI][hapmap]
rs7724599	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs889302	0.92[CHB][hapmap];0.90[JPT][hapmap];0.89[YRI][hapmap];0.85[ASN][1000 genomes]
rs918629	0.84[YRI][hapmap];0.83[EUR][1000 genomes]
rs9314162	0.91[CHB][hapmap]

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	nsv1015180	chr5:95134357-95286446	Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1019566	chr5:95180352-95300677	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	esv2758003	chr5:95231706-95540433	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
4	esv2759355	chr5:95231706-95540433	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10052503	ELL2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95260800-95295200	Weak transcription	Primary T cells from cord blood	blood
2	chr5:95262200-95295400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr5:95264800-95285600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr5:95264800-95293800	Weak transcription	Primary B cells from peripheral blood	blood
5	chr5:95265000-95285600	Weak transcription	Duodenum Mucosa	Duodenum
6	chr5:95270400-95284800	Weak transcription	Fetal Intestine Small	intestine
7	chr5:95270400-95285400	Weak transcription	Right Ventricle	heart
8	chr5:95272400-95283800	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr5:95272800-95291200	Weak transcription	NH-A	brain
10	chr5:95273000-95287600	Weak transcription	Primary B cells from cord blood	blood
11	chr5:95273000-95291200	Weak transcription	HSMMtube	muscle
12	chr5:95273800-95285600	Weak transcription	Stomach Mucosa	stomach
13	chr5:95274800-95292200	Weak transcription	Placenta	Placenta
14	chr5:95275400-95291400	Weak transcription	NHDF-Ad	bronchial
15	chr5:95277000-95290800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr5:95277200-95284200	Weak transcription	Fetal Heart	heart
17	chr5:95277200-95291600	Weak transcription	Ovary	ovary
18	chr5:95277400-95284200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:95277400-95286400	Enhancers	Brain Cingulate Gyrus	brain
20	chr5:95277600-95285600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr5:95277600-95287400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr5:95277800-95291600	Weak transcription	Fetal Intestine Large	intestine
23	chr5:95278000-95287400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:95278000-95292200	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr5:95278400-95286200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr5:95280400-95284000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr5:95280600-95284000	Enhancers	Brain Hippocampus Middle	brain
28	chr5:95281000-95290800	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr5:95281000-95291600	Weak transcription	Aorta	Aorta
30	chr5:95281000-95291600	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr5:95281000-95294000	Weak transcription	Esophagus	oesophagus
32	chr5:95281200-95284600	Weak transcription	Brain Angular Gyrus	brain
33	chr5:95281200-95285000	Weak transcription	Osteobl	bone
34	chr5:95281200-95286800	Weak transcription	Psoas Muscle	Psoas
35	chr5:95282000-95284000	Genic enhancers	HSMM	muscle
36	chr5:95282000-95290600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr5:95282200-95283800	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr5:95282200-95284000	ZNF genes & repeats	GM12878-XiMat	blood
39	chr5:95282200-95285800	Enhancers	K562	blood
40	chr5:95282200-95287400	Weak transcription	NHLF	lung
41	chr5:95282200-95290400	Weak transcription	Left Ventricle	heart
42	chr5:95282400-95287600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr5:95282400-95290400	Weak transcription	Right Atrium	heart
44	chr5:95282400-95291000	Weak transcription	Adipose Nuclei	Adipose
45	chr5:95282400-95291200	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr5:95282400-95294000	Weak transcription	Pancreas	Pancrea
47	chr5:95282600-95284200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr5:95282600-95284400	Weak transcription	Colon Smooth Muscle	Colon
49	chr5:95282600-95285800	Weak transcription	Dnd41	blood
50	chr5:95282600-95290800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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