Variant report

Variant	rs12885864
Chromosome Location	chr14:56163188-56163189
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10444721	0.95[ASN][1000 genomes]
rs10483644	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10483649	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10483651	0.95[ASN][1000 genomes]
rs12432344	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12432588	0.80[EUR][1000 genomes]
rs12432887	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12433592	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12434609	0.92[ASN][1000 genomes]
rs12434624	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12434660	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12434799	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12435643	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12587700	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12587705	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12587735	0.95[ASN][1000 genomes]
rs12588172	0.88[ASN][1000 genomes]
rs12588185	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12589864	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12589867	0.82[EUR][1000 genomes]
rs12590388	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12590936	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12882850	0.80[ASN][1000 genomes]
rs12888809	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12891129	0.95[ASN][1000 genomes]
rs12893162	0.95[ASN][1000 genomes]
rs12895070	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12895366	0.95[ASN][1000 genomes]
rs17128610	0.83[EUR][1000 genomes]
rs17128614	0.83[EUR][1000 genomes]
rs17128655	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17128657	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17128677	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17128684	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17128690	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17253737	0.95[ASN][1000 genomes]
rs17684916	0.93[ASN][1000 genomes]
rs17684959	0.87[ASN][1000 genomes]
rs17685650	0.95[ASN][1000 genomes]
rs1951887	0.92[ASN][1000 genomes]
rs1951889	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1951890	0.84[EUR][1000 genomes]
rs2252189	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2274076	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2274078	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2274079	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2296183	0.95[ASN][1000 genomes]
rs28458791	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28581272	0.86[ASN][1000 genomes]
rs28703642	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34023572	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34111199	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34118806	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34133022	0.95[ASN][1000 genomes]
rs34184813	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34408323	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34548095	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34697059	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34706911	0.92[ASN][1000 genomes]
rs34709110	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34853759	0.95[ASN][1000 genomes]
rs34931260	0.83[EUR][1000 genomes]
rs34982220	0.95[ASN][1000 genomes]
rs35047443	0.84[EUR][1000 genomes]
rs35094494	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35420484	0.82[EUR][1000 genomes]
rs35451981	0.80[EUR][1000 genomes]
rs35531912	0.82[EUR][1000 genomes]
rs35535838	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35560341	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35790844	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55760841	0.80[EUR][1000 genomes]
rs55927221	0.95[ASN][1000 genomes]
rs56229542	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60233569	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61381603	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6573051	0.82[ASN][1000 genomes]
rs6573053	0.93[ASN][1000 genomes]
rs6573054	0.95[ASN][1000 genomes]
rs7150285	0.95[ASN][1000 genomes]
rs7156566	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7158176	0.95[ASN][1000 genomes]
rs8003149	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8006443	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8015588	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[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	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
3	nsv901966	chr14:56160904-56436203	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56102400-56185400	Weak transcription	Right Ventricle	heart
2	chr14:56109200-56164000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr14:56122400-56164800	Weak transcription	Small Intestine	intestine
4	chr14:56142800-56168400	Weak transcription	Fetal Kidney	kidney
5	chr14:56147400-56170400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr14:56147800-56164200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr14:56148000-56174000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr14:56148400-56165600	Weak transcription	NHDF-Ad	bronchial
9	chr14:56151200-56165800	Weak transcription	Hela-S3	cervix
10	chr14:56152800-56164400	Weak transcription	HMEC	breast
11	chr14:56153000-56167800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr14:56153400-56174000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr14:56153600-56163200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr14:56153600-56164200	Weak transcription	HSMMtube	muscle
15	chr14:56153600-56164400	Weak transcription	Brain Angular Gyrus	brain
16	chr14:56153600-56165200	Weak transcription	NH-A	brain
17	chr14:56153600-56165600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr14:56153600-56165600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr14:56153600-56165800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr14:56153800-56163200	Weak transcription	Colonic Mucosa	Colon
21	chr14:56153800-56164000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr14:56153800-56164000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr14:56153800-56164200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr14:56153800-56165000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr14:56153800-56165600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr14:56153800-56170600	Weak transcription	Fetal Stomach	stomach
27	chr14:56153800-56172000	Weak transcription	Esophagus	oesophagus
28	chr14:56153800-56172400	Weak transcription	Dnd41	blood
29	chr14:56153800-56173800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr14:56153800-56174000	Weak transcription	Brain Anterior Caudate	brain
31	chr14:56154000-56167800	Weak transcription	Stomach Smooth Muscle	stomach
32	chr14:56154000-56172400	Weak transcription	Lung	lung
33	chr14:56154000-56173800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr14:56154000-56177800	Weak transcription	Left Ventricle	heart
35	chr14:56154000-56191000	Weak transcription	Aorta	Aorta
36	chr14:56154200-56163400	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr14:56154400-56163800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr14:56154400-56177800	Weak transcription	Fetal Muscle Leg	muscle
39	chr14:56154800-56164400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr14:56154800-56165600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr14:56154800-56174000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr14:56155000-56164400	Weak transcription	HSMM	muscle
43	chr14:56155600-56173600	Weak transcription	Primary T cells from cord blood	blood
44	chr14:56156600-56165600	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr14:56157200-56165200	Weak transcription	NHEK	skin
46	chr14:56157400-56164400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr14:56157400-56165600	Weak transcription	Osteobl	bone
48	chr14:56157600-56163200	Weak transcription	A549	lung
49	chr14:56157600-56164000	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr14:56157600-56172400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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