Variant report

Variant	rs2405070
Chromosome Location	chr1:224528721-224528722
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10158063	1.00[CEU][hapmap];0.88[CHB][hapmap];0.83[ASN][1000 genomes]
rs10733024	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10737442	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10737443	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10753462	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10753464	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10799562	1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10799563	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10799566	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10799567	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10799568	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10916577	0.88[EUR][1000 genomes]
rs10916585	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11802486	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11811730	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16846031	1.00[CEU][hapmap];0.88[CHB][hapmap];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16846094	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16846214	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16846244	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1806742	0.89[CHB][hapmap];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2001712	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2001713	0.92[EUR][1000 genomes]
rs2404783	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2404856	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2404857	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2404858	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2404859	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2404861	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2405062	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2405065	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2405067	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2896990	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2896992	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2897054	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3754090	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3767721	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3767722	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3767723	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3767724	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs3767725	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4146965	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4146966	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4233234	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4233235	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap]
rs4256779	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4420060	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4457542	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4628473	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4653575	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4653579	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4653580	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4653581	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4653583	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4653584	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4654011	0.83[ASN][1000 genomes]
rs4654017	1.00[CEU][hapmap];0.88[CHB][hapmap];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4654019	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4654022	0.95[ASN][1000 genomes]
rs4654023	1.00[CEU][hapmap];0.89[CHB][hapmap];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4654032	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4654033	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4654034	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55675086	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55980628	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57324770	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58855990	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59106681	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6426088	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6426094	1.00[CEU][hapmap];0.89[CHB][hapmap];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6426100	1.00[CEU][hapmap];0.86[CHB][hapmap]
rs6426110	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6426114	0.91[ASN][1000 genomes]
rs6426115	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6426117	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6681790	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6682667	1.00[CEU][hapmap];0.88[CHB][hapmap];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6685600	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6691689	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6694745	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6696795	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6699017	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73118046	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73128468	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73130436	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73130448	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73130455	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73130462	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73130464	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7521015	1.00[CEU][hapmap];0.88[CHB][hapmap];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7522392	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7529143	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7530205	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7534101	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7534447	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9287027	1.00[CEU][hapmap];0.89[CHB][hapmap];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv469889	chr1:224440354-224634374	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS 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 miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv482318	chr1:224440354-224634374	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224527400-224528800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:224528400-224528800	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr1:224528400-224528800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:224528400-224529000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:224528400-224529000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:224528400-224529000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:224528400-224529000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:224528400-224529000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr1:224528400-224529000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr1:224528400-224529000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
11	chr1:224528400-224529000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:224528400-224529000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
13	chr1:224528400-224529000	Active TSS	Colonic Mucosa	Colon
14	chr1:224528400-224529000	Active TSS	Fetal Kidney	kidney
15	chr1:224528400-224529000	Flanking Active TSS	HUVEC	blood vessel
16	chr1:224528400-224529200	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr1:224528400-224529200	Active TSS	H9 Cell Line	embryonic stem cell
18	chr1:224528400-224529200	Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr1:224528400-224529200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:224528400-224529200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:224528400-224529200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr1:224528400-224529200	Active TSS	Fetal Intestine Large	intestine
23	chr1:224528400-224529200	Active TSS	Fetal Intestine Small	intestine
24	chr1:224528400-224529200	Active TSS	HepG2	liver
25	chr1:224528400-224529200	Active TSS	NHDF-Ad	bronchial
26	chr1:224528400-224529200	Active TSS	NHLF	lung
27	chr1:224528400-224529200	Active TSS	Osteobl	bone
28	chr1:224528400-224529400	Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr1:224528400-224529400	Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr1:224528400-224529400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:224528400-224529400	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr1:224528400-224529400	Active TSS	A549	lung
33	chr1:224528400-224529600	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr1:224528600-224528800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr1:224528600-224528800	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr1:224528600-224528800	Flanking Active TSS	Primary hematopoietic stem cells	blood
37	chr1:224528600-224528800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr1:224528600-224528800	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr1:224528600-224528800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr1:224528600-224528800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr1:224528600-224528800	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr1:224528600-224528800	Active TSS	Brain Anterior Caudate	brain
43	chr1:224528600-224528800	Active TSS	Brain Substantia Nigra	brain
44	chr1:224528600-224528800	Active TSS	Esophagus	oesophagus
45	chr1:224528600-224528800	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
46	chr1:224528600-224528800	Active TSS	Fetal Lung	lung
47	chr1:224528600-224528800	Active TSS	Gastric	stomach
48	chr1:224528600-224528800	Flanking Bivalent TSS/Enh	Right Ventricle	heart
49	chr1:224528600-224528800	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
50	chr1:224528600-224528800	Flanking Bivalent TSS/Enh	Thymus	Thymus

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