Variant report

Variant	rs13016893
Chromosome Location	chr2:148720187-148720188
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:148717126..148719327-chr2:148720012..148722132,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10180655	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10439198	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs11686483	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12105745	1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs1227304	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1234396	0.84[ASN][1000 genomes]
rs1234397	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1234416	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs1234418	0.83[ASN][1000 genomes]
rs12472291	0.80[EUR][1000 genomes]
rs12622150	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12989087	0.85[ASN][1000 genomes]
rs13430086	0.85[CEU][hapmap];0.93[ASN][1000 genomes]
rs1872198	0.84[ASN][1000 genomes]
rs1895694	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2100469	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2113792	0.96[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2113794	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2194695	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2382202	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2603597	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2603599	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2603600	0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2627019	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2627025	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3768684	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs3768686	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs3768688	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3820716	0.84[CEU][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4419186	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs55816333	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56073268	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6430291	0.80[EUR][1000 genomes]
rs6709182	0.92[CEU][hapmap];0.80[EUR][1000 genomes]
rs6713811	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6731371	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7566230	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7577025	0.84[ASN][1000 genomes]
rs7580420	0.80[EUR][1000 genomes]
rs7582403	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7593570	1.00[ASN][1000 genomes]
rs9287411	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs979636	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916286	chr2:148438001-148977722	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv529388	chr2:148471340-148934846	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv3392562	chr2:148476961-148843061	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1009602	chr2:148668195-148844240	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv535967	chr2:148668195-148844240	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv1000246	chr2:148669162-148780280	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
7	nsv535968	chr2:148669162-148780280	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
8	nsv1002358	chr2:148703807-148942372	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv1004169	chr2:148705700-148811850	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv535970	chr2:148705700-148811850	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv1007683	chr2:148717347-148942372	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv535971	chr2:148717347-148942372	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13016893	ORC4L	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:148637200-148752600	Weak transcription	Small Intestine	intestine
2	chr2:148658800-148741600	Weak transcription	Aorta	Aorta
3	chr2:148664600-148721200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:148676200-148722400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr2:148679600-148737200	Weak transcription	Hela-S3	cervix
6	chr2:148681000-148729600	Weak transcription	NHDF-Ad	bronchial
7	chr2:148683000-148725200	Weak transcription	Fetal Heart	heart
8	chr2:148688200-148728600	Weak transcription	NH-A	brain
9	chr2:148691000-148734600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr2:148692000-148720200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:148693400-148722000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr2:148693800-148724200	Weak transcription	Brain Hippocampus Middle	brain
13	chr2:148694000-148721000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr2:148694000-148725400	Weak transcription	Brain Anterior Caudate	brain
15	chr2:148694000-148731400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr2:148694200-148777400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr2:148694400-148720600	Weak transcription	Ovary	ovary
18	chr2:148694400-148725400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:148694400-148738400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr2:148694400-148741000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr2:148694400-148741200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr2:148694600-148720400	Weak transcription	Lung	lung
23	chr2:148694600-148731600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr2:148695000-148746800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr2:148696600-148721400	Weak transcription	Brain Cingulate Gyrus	brain
26	chr2:148698000-148734000	Weak transcription	Brain Angular Gyrus	brain
27	chr2:148701000-148728200	Weak transcription	Osteobl	bone
28	chr2:148701000-148730200	Weak transcription	Placenta	Placenta
29	chr2:148707600-148732200	Weak transcription	Stomach Mucosa	stomach
30	chr2:148709000-148720800	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr2:148709000-148721800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr2:148709000-148738400	Weak transcription	Colon Smooth Muscle	Colon
33	chr2:148709200-148721000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr2:148709200-148725000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:148709200-148725400	Weak transcription	Rectal Smooth Muscle	rectum
36	chr2:148709200-148726400	Weak transcription	Fetal Kidney	kidney
37	chr2:148709200-148737800	Weak transcription	Fetal Brain Male	brain
38	chr2:148709200-148747600	Weak transcription	Adipose Nuclei	Adipose
39	chr2:148709400-148720400	Weak transcription	Psoas Muscle	Psoas
40	chr2:148709400-148723200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr2:148709400-148731800	Weak transcription	Left Ventricle	heart
42	chr2:148709400-148732000	Weak transcription	HUVEC	blood vessel
43	chr2:148709400-148735000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr2:148709400-148776800	Weak transcription	Stomach Smooth Muscle	stomach
45	chr2:148709600-148721000	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr2:148709600-148723800	Weak transcription	K562	blood
47	chr2:148709600-148725200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr2:148709600-148726000	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr2:148709600-148741400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr2:148709800-148725400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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