Variant report

Variant	rs708609
Chromosome Location	chr1:155769762-155769763
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	chr1:155769410..155771297-chr1:155796541..155800799,3	K562	blood:

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10796952	0.89[AMR][1000 genomes]
rs1621690	0.91[AFR][1000 genomes]
rs1625821	1.00[AMR][1000 genomes]
rs1627630	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs168343	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs171168	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1749412	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1749413	1.00[AMR][1000 genomes]
rs1749414	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1749420	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1749422	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1756242	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1765280	0.87[AFR][1000 genomes]
rs1765283	0.91[AFR][1000 genomes]
rs1765286	0.91[AFR][1000 genomes]
rs1886618	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2136920	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2175389	1.00[AMR][1000 genomes]
rs2363017	1.00[AMR][1000 genomes]
rs2481623	0.88[AFR][1000 genomes]
rs2485470	0.95[AFR][1000 genomes]
rs2485472	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2666828	0.89[AMR][1000 genomes]
rs2686264	0.89[AMR][1000 genomes]
rs2885676	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2988999	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs348184	0.84[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	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs348200	1.00[AMR][1000 genomes]
rs348207	1.00[AMR][1000 genomes]
rs348208	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs348209	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35264557	0.89[AMR][1000 genomes]
rs4581273	0.91[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	1.00[AMR][1000 genomes]
rs568672	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs606755	1.00[AMR][1000 genomes]
rs607036	0.89[AMR][1000 genomes]
rs617232	0.89[AMR][1000 genomes]
rs6427290	0.91[AFR][1000 genomes]
rs6688399	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs670787	0.89[AMR][1000 genomes]
rs708607	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs708613	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs8179457	1.00[AMR][1000 genomes]
rs822013	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs822014	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs822017	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs822021	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs822023	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs822024	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs822027	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs822479	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs822481	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs822483	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs822485	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs822487	0.88[AFR][1000 genomes]
rs822492	1.00[AMR][1000 genomes]
rs822496	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs822498	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs822522	1.00[AMR][1000 genomes]
rs866603	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9427219	0.89[AMR][1000 genomes]
rs9427222	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9427227	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9427229	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv428246	chr1:155558197-155785831	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155715400-155789200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:155716000-155793400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:155716600-155781800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:155717400-155795800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:155720200-155798200	Strong transcription	Fetal Thymus	thymus
6	chr1:155720200-155803600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:155720400-155796800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr1:155732200-155789200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr1:155737200-155772200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr1:155743200-155773400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr1:155746400-155774000	Weak transcription	Pancreas	Pancrea
12	chr1:155746400-155791400	Weak transcription	Stomach Mucosa	stomach
13	chr1:155747600-155776200	Weak transcription	Right Ventricle	heart
14	chr1:155747600-155787200	Weak transcription	Esophagus	oesophagus
15	chr1:155747800-155785600	Weak transcription	Fetal Brain Male	brain
16	chr1:155747800-155791200	Weak transcription	Fetal Heart	heart
17	chr1:155748000-155789400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:155748800-155771600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr1:155751800-155777600	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr1:155752000-155771000	Strong transcription	Fetal Muscle Leg	muscle
21	chr1:155754800-155770600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr1:155755000-155772600	Weak transcription	Gastric	stomach
23	chr1:155755200-155771600	Weak transcription	Small Intestine	intestine
24	chr1:155755200-155774000	Weak transcription	Colonic Mucosa	Colon
25	chr1:155755600-155777400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr1:155758000-155777200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr1:155758200-155777200	Strong transcription	Fetal Intestine Large	intestine
28	chr1:155758800-155778400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:155759000-155777200	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr1:155759200-155777400	Strong transcription	Placenta	Placenta
31	chr1:155760200-155770800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr1:155760200-155777200	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr1:155760400-155779000	Strong transcription	Thymus	Thymus
34	chr1:155760800-155777200	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr1:155761600-155776800	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr1:155761600-155778400	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr1:155761800-155777000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr1:155761800-155777200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr1:155762000-155777200	Strong transcription	Liver	Liver
40	chr1:155762200-155769800	Strong transcription	Duodenum Mucosa	Duodenum
41	chr1:155762200-155775000	Strong transcription	Primary B cells from peripheral blood	blood
42	chr1:155762200-155798000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr1:155762600-155770600	Strong transcription	Left Ventricle	heart
44	chr1:155762600-155779200	Strong transcription	Fetal Stomach	stomach
45	chr1:155762600-155785000	Strong transcription	Fetal Intestine Small	intestine
46	chr1:155762800-155779200	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr1:155763000-155773600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr1:155763000-155779000	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr1:155763800-155770600	Weak transcription	NH-A	brain
50	chr1:155764200-155772600	Weak transcription	Spleen	Spleen

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