Variant report

Variant	rs11207284
Chromosome Location	chr1:59134586-59134587
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:59125952..59132730-chr1:59132819..59139059,8	K562	blood:
2	chr1:59134517..59137998-chr1:59142561..59145087,3	K562	blood:
3	chr1:59123673..59126344-chr1:59132381..59135089,2	MCF-7	breast:
4	chr1:59134581..59137397-chr1:59243630..59245896,2	K562	blood:
5	chr1:59132247..59135005-chr1:59138628..59141318,2	K562	blood:
6	chr1:59130516..59133447-chr1:59134109..59136704,3	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FGGY-12	chr1:59134517-59134645	ucscGeneNc_uc001czf_1

No data

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10489540	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11207278	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11207297	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11207299	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12062727	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12070703	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12073211	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12078684	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12080369	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12082192	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12092264	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12562490	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12737926	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12742701	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17117968	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17118041	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17118097	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1961787	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2897558	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35180093	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4244016	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4414067	0.84[EUR][1000 genomes]
rs4483434	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4553223	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4612650	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4912361	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4912364	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4912365	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4912366	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4912371	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4912375	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55677434	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55892958	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56398740	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61292499	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6659809	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6664796	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6673162	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6682078	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003930	chr1:58930444-59157038	Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11207284	DAB1///OMA1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59115600-59138400	Weak transcription	Small Intestine	intestine
2	chr1:59116000-59151600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:59116400-59137800	Weak transcription	Fetal Heart	heart
4	chr1:59117800-59147600	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr1:59118000-59139000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:59118200-59163400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:59118600-59147400	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr1:59119000-59135200	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr1:59119800-59147600	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr1:59119800-59155000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr1:59119800-59162200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr1:59119800-59163200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:59120000-59143000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:59120000-59153400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:59120200-59149400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:59121000-59161200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:59121200-59141600	Strong transcription	Primary B cells from cord blood	blood
18	chr1:59121400-59134800	Strong transcription	Placenta	Placenta
19	chr1:59121400-59145400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:59121400-59161000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:59121600-59139800	Weak transcription	Hela-S3	cervix
22	chr1:59121600-59141600	Strong transcription	NH-A	brain
23	chr1:59121600-59142200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr1:59121600-59143000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:59121600-59143000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:59121600-59147400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr1:59121600-59148400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr1:59121600-59150000	Strong transcription	Primary B cells from peripheral blood	blood
29	chr1:59121600-59150000	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr1:59121600-59150600	Strong transcription	Liver	Liver
31	chr1:59121600-59161200	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr1:59121600-59161200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr1:59121800-59134600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr1:59122200-59153400	Weak transcription	Esophagus	oesophagus
35	chr1:59122400-59138400	Weak transcription	Lung	lung
36	chr1:59122400-59153200	Weak transcription	Gastric	stomach
37	chr1:59122400-59153200	Weak transcription	Pancreas	Pancrea
38	chr1:59122400-59155200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr1:59122400-59159400	Weak transcription	Right Ventricle	heart
40	chr1:59122800-59141800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr1:59123000-59134600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr1:59123400-59153800	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr1:59123600-59134800	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr1:59123800-59161800	Strong transcription	Dnd41	blood
45	chr1:59124000-59156600	Weak transcription	Spleen	Spleen
46	chr1:59124200-59134600	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr1:59125000-59135400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:59125000-59142800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr1:59125000-59162200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr1:59125200-59138400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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