Variant report

Variant	rs17592121
Chromosome Location	chr1:193110113-193110114
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:193089678..193094466-chr1:193108770..193113792,7	K562	blood:
2	chr1:193103257..193105981-chr1:193108348..193110147,2	MCF-7	breast:
3	chr1:193094983..193097792-chr1:193109344..193111694,2	K562	blood:
4	chr1:193109513..193111916-chr1:193118044..193119705,2	K562	blood:
5	chr1:193089186..193093634-chr1:193104182..193110601,11	MCF-7	breast:
6	chr1:193090285..193094192-chr1:193108770..193110535,3	K562	blood:

Variant related genes	Relation type
ENSG00000221680	Chromatin interaction
ENSG00000134371	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10494675	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10801170	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs10801186	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10921331	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs12119992	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs12122868	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12123069	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12123511	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs12123750	1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12123793	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12123970	1.00[CEU][hapmap]
rs12124921	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12124924	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12128125	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12129126	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12132305	1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap]
rs12134846	1.00[CEU][hapmap]
rs12135148	1.00[CEU][hapmap]
rs12135670	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12141029	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12141559	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12143361	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12143573	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12145101	0.85[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12145609	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1325196	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17526825	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17592633	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17593120	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs2887640	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs28930673	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28930674	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs528790	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs6667917	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6682904	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs72731058	0.97[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs72731066	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72731068	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72740227	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72740228	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72740230	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7415619	1.00[GIH][hapmap]
rs7525157	0.86[AFR][1000 genomes]
rs842805	1.00[GIH][hapmap]

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	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193092600-193141600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:193092800-193115200	Weak transcription	Small Intestine	intestine
3	chr1:193093800-193115400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:193093800-193125000	Weak transcription	Stomach Mucosa	stomach
5	chr1:193093800-193126400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:193094000-193111200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr1:193094000-193115400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr1:193094200-193112200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:193094200-193113000	Strong transcription	Fetal Thymus	thymus
10	chr1:193094600-193110400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:193094800-193155000	Weak transcription	Aorta	Aorta
12	chr1:193095000-193124400	Strong transcription	Dnd41	blood
13	chr1:193097400-193126800	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr1:193098800-193110800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr1:193098800-193111000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr1:193098800-193112200	Strong transcription	HSMM	muscle
17	chr1:193099000-193119000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:193099200-193112600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:193100000-193115000	Weak transcription	Fetal Brain Male	brain
20	chr1:193101000-193115400	Weak transcription	Psoas Muscle	Psoas
21	chr1:193101000-193140000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr1:193101400-193111000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr1:193101400-193130000	Weak transcription	Colonic Mucosa	Colon
24	chr1:193101600-193124800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr1:193104000-193110200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:193104000-193111600	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr1:193104000-193111800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:193104200-193112200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:193104200-193123400	Strong transcription	Duodenum Mucosa	Duodenum
30	chr1:193104200-193126200	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr1:193104200-193135000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr1:193104400-193110600	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr1:193104400-193111400	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr1:193104400-193111600	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr1:193104400-193112000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr1:193104400-193112000	Strong transcription	Primary hematopoietic stem cells	blood
37	chr1:193104400-193112000	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr1:193104400-193112600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr1:193104400-193112600	Strong transcription	NH-A	brain
40	chr1:193104400-193113000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr1:193104400-193124000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:193104600-193111000	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr1:193104600-193111800	Strong transcription	Liver	Liver
44	chr1:193104600-193111800	Strong transcription	Osteobl	bone
45	chr1:193104600-193112000	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr1:193104600-193112800	Strong transcription	Primary B cells from peripheral blood	blood
47	chr1:193104800-193110200	Strong transcription	Fetal Brain Female	brain
48	chr1:193104800-193110200	Strong transcription	GM12878-XiMat	blood
49	chr1:193104800-193110600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr1:193104800-193112000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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