Variant report

Variant	rs12882850
Chromosome Location	chr14:56111707-56111708
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	chr14:56046884..56048461-chr14:56110849..56113567,2	K562	blood:
2	chr14:56110772..56112668-chr14:56115971..56118185,2	K562	blood:

Variant related genes	Relation type
ENSG00000126777	Chromatin interaction

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10136386	0.85[CEU][hapmap]
rs10146870	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10444721	0.96[CEU][hapmap];0.83[CHB][hapmap];0.83[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10483644	0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs10483649	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10483651	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12432887	0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs12433592	0.94[ASN][1000 genomes]
rs12434609	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12434624	0.81[ASN][1000 genomes]
rs12434660	0.80[ASN][1000 genomes]
rs12434799	0.95[ASN][1000 genomes]
rs12435643	0.83[JPT][hapmap]
rs12587700	0.80[ASN][1000 genomes]
rs12587735	1.00[CEU][hapmap];0.82[CHB][hapmap];0.81[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12588172	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12590388	0.81[JPT][hapmap]
rs12590936	0.83[JPT][hapmap]
rs12885864	0.80[ASN][1000 genomes]
rs12888809	0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs12891129	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12891526	0.97[AFR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12893162	0.95[CEU][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12895070	0.94[ASN][1000 genomes]
rs12895366	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12897227	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17128610	0.87[ASN][1000 genomes]
rs17128614	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17128655	0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs17128657	0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs17128684	0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs17128690	0.80[ASN][1000 genomes]
rs17253737	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17684916	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17684959	0.92[CEU][hapmap];0.90[YRI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17685650	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1951887	1.00[CEU][hapmap];0.82[CHB][hapmap];0.81[JPT][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1951889	0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs1951890	0.81[CHB][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs2093800	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2252189	0.83[JPT][hapmap]
rs2274076	0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs2274078	0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs2274079	0.81[ASN][1000 genomes]
rs2296182	1.00[CEU][hapmap];0.85[CHB][hapmap];0.85[JPT][hapmap]
rs2296183	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2341889	0.84[ASN][1000 genomes]
rs28581272	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34111199	0.82[ASN][1000 genomes]
rs34118806	0.93[ASN][1000 genomes]
rs34133022	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34184813	0.95[ASN][1000 genomes]
rs34408323	0.82[ASN][1000 genomes]
rs34548095	0.80[ASN][1000 genomes]
rs34697059	0.80[ASN][1000 genomes]
rs34706911	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34709110	0.80[ASN][1000 genomes]
rs34853759	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34931260	0.87[ASN][1000 genomes]
rs34982220	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35047443	0.88[ASN][1000 genomes]
rs35094494	0.80[ASN][1000 genomes]
rs35420484	0.86[ASN][1000 genomes]
rs35451981	0.86[ASN][1000 genomes]
rs35531912	0.85[ASN][1000 genomes]
rs35560341	0.94[ASN][1000 genomes]
rs35790844	0.93[ASN][1000 genomes]
rs3765515	0.96[CEU][hapmap];0.83[CHB][hapmap];0.82[JPT][hapmap]
rs4457912	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55760841	0.86[ASN][1000 genomes]
rs55927221	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60233569	0.80[ASN][1000 genomes]
rs61381603	0.94[ASN][1000 genomes]
rs6573051	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6573053	0.92[CEU][hapmap];0.83[CHB][hapmap];0.83[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6573054	0.96[CEU][hapmap];0.83[CHB][hapmap];0.83[JPT][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs68127620	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7150285	0.87[CEU][hapmap];0.83[CHB][hapmap];0.96[YRI][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7154548	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7156566	0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs7158176	0.94[CEU][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72719463	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8003149	0.80[AFR][1000 genomes]
rs8006443	0.94[ASN][1000 genomes]
rs8007183	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8007832	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8008764	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8011252	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8015588	0.80[ASN][1000 genomes]
rs942317	0.81[CEU][hapmap]

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	nsv1051564	chr14:55895610-56130788	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv542103	chr14:55895610-56130788	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	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
4	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56078600-56148600	Weak transcription	Stomach Mucosa	stomach
2	chr14:56087400-56111800	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr14:56087400-56112200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr14:56087400-56132200	Strong transcription	Dnd41	blood
5	chr14:56087600-56145200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr14:56088200-56129400	Weak transcription	Spleen	Spleen
7	chr14:56088200-56132200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:56088400-56121600	Weak transcription	Aorta	Aorta
9	chr14:56088400-56121800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:56088400-56153200	Weak transcription	Gastric	stomach
11	chr14:56092800-56135400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr14:56094400-56113000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr14:56094400-56132600	Strong transcription	HSMM	muscle
14	chr14:56095000-56142200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr14:56096200-56112000	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr14:56097600-56115600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr14:56097600-56145200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr14:56097600-56155400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr14:56098600-56121600	Weak transcription	Small Intestine	intestine
20	chr14:56099000-56128000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr14:56099400-56118600	Strong transcription	Hela-S3	cervix
22	chr14:56100200-56131000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr14:56100400-56112600	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr14:56100800-56112200	Strong transcription	Duodenum Mucosa	Duodenum
25	chr14:56101000-56132800	Strong transcription	Primary B cells from peripheral blood	blood
26	chr14:56101400-56112800	Strong transcription	Primary B cells from cord blood	blood
27	chr14:56101800-56118200	Weak transcription	Fetal Brain Female	brain
28	chr14:56101800-56121600	Weak transcription	Pancreas	Pancrea
29	chr14:56101800-56123200	Weak transcription	Fetal Intestine Small	intestine
30	chr14:56101800-56128800	Weak transcription	Fetal Stomach	stomach
31	chr14:56101800-56162800	Weak transcription	Brain Germinal Matrix	brain
32	chr14:56102400-56121600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr14:56102400-56121600	Weak transcription	Esophagus	oesophagus
34	chr14:56102400-56145200	Weak transcription	Lung	lung
35	chr14:56102400-56185400	Weak transcription	Right Ventricle	heart
36	chr14:56103200-56117000	Weak transcription	K562	blood
37	chr14:56103400-56130600	Weak transcription	Thymus	Thymus
38	chr14:56104000-56115800	Weak transcription	Brain Angular Gyrus	brain
39	chr14:56104600-56119600	Weak transcription	Rectal Smooth Muscle	rectum
40	chr14:56104600-56121600	Weak transcription	Ovary	ovary
41	chr14:56104600-56127600	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr14:56104800-56111800	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr14:56104800-56112600	Weak transcription	HSMMtube	muscle
44	chr14:56104800-56121600	Weak transcription	Left Ventricle	heart
45	chr14:56104800-56128800	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr14:56104800-56157400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr14:56105000-56122600	Weak transcription	NHLF	lung
48	chr14:56105000-56129200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr14:56105000-56138200	Weak transcription	Psoas Muscle	Psoas
50	chr14:56106000-56150200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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