Variant report

Variant	rs822479
Chromosome Location	chr1:155794890-155794891
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	chr1:155774997..155776767-chr1:155793865..155796563,2	K562	blood:

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10796952	0.89[AMR][1000 genomes]
rs11264417	0.90[YRI][hapmap]
rs1621690	0.87[AFR][1000 genomes]
rs1625821	1.00[AMR][1000 genomes]
rs1627630	0.90[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs168343	1.00[AMR][1000 genomes]
rs171168	0.90[YRI][hapmap];1.00[AMR][1000 genomes]
rs1749412	0.86[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1749413	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1749414	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1749420	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1749422	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1756242	0.90[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1765280	0.92[AFR][1000 genomes]
rs1765283	0.87[AFR][1000 genomes]
rs1765286	0.88[AFR][1000 genomes]
rs1886618	0.91[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2136920	1.00[AMR][1000 genomes]
rs2175389	1.00[AMR][1000 genomes]
rs2363017	1.00[AMR][1000 genomes]
rs2481623	0.93[AFR][1000 genomes]
rs2485470	0.92[AFR][1000 genomes]
rs2485472	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2666828	0.89[AMR][1000 genomes]
rs2686264	0.89[AMR][1000 genomes]
rs2885676	0.90[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2988999	0.89[AMR][1000 genomes]
rs348184	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs348188	0.89[AMR][1000 genomes]
rs348189	0.89[AMR][1000 genomes]
rs348191	1.00[AMR][1000 genomes]
rs348193	0.89[AMR][1000 genomes]
rs348197	1.00[AMR][1000 genomes]
rs348199	1.00[AMR][1000 genomes]
rs348200	1.00[AMR][1000 genomes]
rs348207	0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs348208	1.00[AMR][1000 genomes]
rs348209	1.00[AMR][1000 genomes]
rs35264557	0.89[AMR][1000 genomes]
rs4581273	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs492669	0.89[AMR][1000 genomes]
rs4971058	0.89[AMR][1000 genomes]
rs512551	1.00[AMR][1000 genomes]
rs540380	0.90[YRI][hapmap];1.00[AMR][1000 genomes]
rs568672	1.00[AMR][1000 genomes]
rs606755	1.00[AMR][1000 genomes]
rs607036	0.89[AMR][1000 genomes]
rs617232	0.89[AMR][1000 genomes]
rs6427290	0.96[AFR][1000 genomes]
rs6688399	0.90[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs670787	0.89[AMR][1000 genomes]
rs708607	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs708609	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs708613	0.91[YRI][hapmap];0.94[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs8179457	1.00[AMR][1000 genomes]
rs822011	0.84[AFR][1000 genomes]
rs822013	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs822014	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs822017	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs822021	0.90[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs822023	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs822024	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs822027	0.90[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs822481	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs822483	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs822484	0.83[AFR][1000 genomes]
rs822485	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs822487	0.94[AFR][1000 genomes]
rs822492	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs822496	0.90[YRI][hapmap];0.96[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs822498	0.90[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs822521	0.80[YRI][hapmap];0.81[AFR][1000 genomes]
rs822522	1.00[AMR][1000 genomes]
rs866603	0.90[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9427219	0.89[AMR][1000 genomes]
rs9427222	1.00[AMR][1000 genomes]
rs9427227	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9427229	0.85[AFR][1000 genomes];1.00[AMR][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	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
2	esv3423892	chr1:155664084-155901487	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv872469	chr1:155743310-155810293	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1003170	chr1:155762204-155836564	Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155717400-155795800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:155720200-155798200	Strong transcription	Fetal Thymus	thymus
3	chr1:155720200-155803600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:155720400-155796800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr1:155762200-155798000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:155765200-155803800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr1:155765200-155813200	Weak transcription	Psoas Muscle	Psoas
8	chr1:155771400-155798400	Strong transcription	Fetal Muscle Leg	muscle
9	chr1:155771600-155798200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:155772000-155798000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:155775000-155795600	Weak transcription	Small Intestine	intestine
12	chr1:155776000-155796600	Strong transcription	H1 Cell Line	embryonic stem cell
13	chr1:155777200-155795800	Weak transcription	Aorta	Aorta
14	chr1:155778000-155797200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr1:155778200-155795400	Strong transcription	Primary T helper cells PMA-I stimulated	--
16	chr1:155779600-155797600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr1:155780000-155797800	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr1:155780000-155798000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr1:155780200-155796400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr1:155780200-155796800	Strong transcription	Osteobl	bone
21	chr1:155780200-155797600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:155780400-155796800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr1:155780400-155797400	Strong transcription	Adipose Nuclei	Adipose
24	chr1:155780400-155797600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr1:155780400-155797600	Strong transcription	Dnd41	blood
26	chr1:155780400-155797600	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr1:155780400-155797800	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr1:155780400-155798200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr1:155780600-155796000	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr1:155780600-155796400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr1:155780600-155796800	Strong transcription	Primary T cells from cord blood	blood
32	chr1:155780600-155797000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:155780600-155797200	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr1:155780600-155797200	Strong transcription	NH-A	brain
35	chr1:155781600-155796800	Strong transcription	Placenta	Placenta
36	chr1:155781600-155798000	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr1:155781600-155798200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:155781800-155797000	Strong transcription	Primary B cells from peripheral blood	blood
39	chr1:155782000-155796800	Strong transcription	Duodenum Mucosa	Duodenum
40	chr1:155782200-155796400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr1:155782200-155800800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:155782400-155795400	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr1:155782400-155798000	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr1:155782600-155795000	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr1:155782600-155798000	Strong transcription	Fetal Intestine Large	intestine
46	chr1:155782800-155796200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr1:155783600-155823000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr1:155785400-155797400	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr1:155786200-155796400	Strong transcription	HepG2	liver
50	chr1:155786600-155798000	Strong transcription	Fetal Muscle Trunk	muscle

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