Variant report

Variant	rs17685650
Chromosome Location	chr14:56148680-56148681
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10146870	0.86[EUR][1000 genomes]
rs10444721	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10483644	0.91[ASN][1000 genomes]
rs10483651	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12432344	0.88[ASN][1000 genomes]
rs12432887	0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs12434609	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12434624	0.92[ASN][1000 genomes]
rs12434660	0.90[ASN][1000 genomes]
rs12435643	0.95[ASN][1000 genomes]
rs12587700	0.95[ASN][1000 genomes]
rs12587705	0.95[ASN][1000 genomes]
rs12587735	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12588172	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12588185	0.87[ASN][1000 genomes]
rs12589864	0.95[ASN][1000 genomes]
rs12590388	0.90[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs12590936	0.92[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs12882850	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12885864	0.95[ASN][1000 genomes]
rs12888809	0.93[ASN][1000 genomes]
rs12891129	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12891526	0.92[EUR][1000 genomes]
rs12893162	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12895366	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12897227	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17128657	0.92[ASN][1000 genomes]
rs17128677	0.94[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs17128684	0.90[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs17128690	0.80[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs17253737	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17684916	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17684959	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1951887	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1951889	0.91[ASN][1000 genomes]
rs2093800	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2252189	0.93[ASN][1000 genomes]
rs2274076	0.91[ASN][1000 genomes]
rs2274078	0.92[ASN][1000 genomes]
rs2274079	0.92[ASN][1000 genomes]
rs2296183	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28458791	0.95[ASN][1000 genomes]
rs28581272	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28703642	0.93[ASN][1000 genomes]
rs34023572	0.83[ASN][1000 genomes]
rs34111199	0.91[ASN][1000 genomes]
rs34133022	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34408323	0.91[ASN][1000 genomes]
rs34548095	0.82[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs34697059	0.95[ASN][1000 genomes]
rs34706911	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34709110	0.89[ASN][1000 genomes]
rs34853759	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34982220	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35094494	0.93[ASN][1000 genomes]
rs35535838	0.94[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4457912	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55927221	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56229542	0.84[ASN][1000 genomes]
rs60233569	0.80[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs6573051	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6573053	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6573054	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs68127620	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7150285	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7154548	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7156566	0.83[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs7158176	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72719463	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8003149	0.93[ASN][1000 genomes]
rs8007183	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8007832	0.85[EUR][1000 genomes]
rs8008764	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8011252	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8015588	0.84[AFR][1000 genomes];0.95[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	nsv832804	chr14:56083850-56277632	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	esv1792376	chr14:56108007-56150151	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1283	chr14:56120059-56164729	Strong transcription Genic enhancers ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56088400-56153200	Weak transcription	Gastric	stomach
2	chr14:56097600-56155400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr14:56101800-56162800	Weak transcription	Brain Germinal Matrix	brain
4	chr14:56102400-56185400	Weak transcription	Right Ventricle	heart
5	chr14:56104800-56157400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr14:56106000-56150200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr14:56109200-56164000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr14:56113800-56155000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr14:56115000-56155000	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr14:56122400-56152600	Weak transcription	Esophagus	oesophagus
11	chr14:56122400-56164800	Weak transcription	Small Intestine	intestine
12	chr14:56128200-56149800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr14:56129800-56152000	Weak transcription	Aorta	Aorta
14	chr14:56133400-56153400	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr14:56134000-56155000	Strong transcription	HSMM	muscle
16	chr14:56134200-56153600	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr14:56134600-56154200	Strong transcription	Liver	Liver
18	chr14:56135000-56153400	Strong transcription	Placenta	Placenta
19	chr14:56135200-56152800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr14:56135200-56153600	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr14:56136600-56154200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr14:56136800-56150000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr14:56136800-56153800	Strong transcription	Dnd41	blood
24	chr14:56136800-56154200	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr14:56137000-56153600	Strong transcription	Duodenum Mucosa	Duodenum
26	chr14:56137000-56153800	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr14:56137000-56154200	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr14:56137200-56153600	Strong transcription	Primary B cells from peripheral blood	blood
29	chr14:56137200-56154000	Strong transcription	Primary B cells from cord blood	blood
30	chr14:56137400-56149400	Strong transcription	HMEC	breast
31	chr14:56137400-56153800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr14:56137400-56154800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr14:56137400-56154800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr14:56137400-56155000	Strong transcription	Adipose Nuclei	Adipose
35	chr14:56138600-56151600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr14:56138600-56155200	Strong transcription	A549	lung
37	chr14:56138800-56153600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr14:56141400-56154400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr14:56141600-56149600	Strong transcription	GM12878-XiMat	blood
40	chr14:56142800-56168400	Weak transcription	Fetal Kidney	kidney
41	chr14:56143600-56149600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr14:56143600-56149800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr14:56144200-56150800	Strong transcription	Fetal Thymus	thymus
44	chr14:56144600-56149600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr14:56144600-56149600	Strong transcription	Fetal Muscle Trunk	muscle
46	chr14:56144800-56149600	Strong transcription	Primary T cells from cord blood	blood
47	chr14:56144800-56153800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr14:56145000-56150800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr14:56145000-56152600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr14:56145000-56153600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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