Variant report

Variant	rs73264346
Chromosome Location	chr14:31067654-31067655
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs12100621	1.00[AMR][1000 genomes]
rs57216699	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57549139	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57618174	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57677010	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58653311	0.83[AFR][1000 genomes]
rs60350877	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60353606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60362029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60727186	0.83[AFR][1000 genomes]
rs73251132	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251134	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251145	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251151	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251156	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251167	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251168	1.00[AMR][1000 genomes]
rs73251169	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251177	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251179	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251181	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251184	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251188	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251199	0.83[AFR][1000 genomes]
rs73253017	0.83[AFR][1000 genomes]
rs73254546	0.83[AFR][1000 genomes]
rs73254548	0.83[AFR][1000 genomes]
rs73254552	0.83[AFR][1000 genomes]
rs73254553	0.83[AFR][1000 genomes]
rs73254554	0.83[AFR][1000 genomes]
rs73254555	0.83[AFR][1000 genomes]
rs73254556	0.83[AFR][1000 genomes]
rs73254560	0.83[AFR][1000 genomes]
rs73254565	0.83[AFR][1000 genomes]
rs73254568	0.83[AFR][1000 genomes]
rs73254580	0.83[AFR][1000 genomes]
rs73254583	0.83[AFR][1000 genomes]
rs73254586	0.83[AFR][1000 genomes]
rs73254588	0.83[AFR][1000 genomes]
rs73254589	0.83[AFR][1000 genomes]
rs73255979	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73255992	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73258111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73258118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73258119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264321	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264329	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264330	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264333	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264341	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264358	1.00[AMR][1000 genomes]
rs73264362	1.00[AFR][1000 genomes];1.00[AMR][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	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1036419	chr14:30969616-31224226	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31029000-31071800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:31029200-31071800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:31033800-31070000	Weak transcription	Lung	lung
4	chr14:31040200-31069800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr14:31043000-31079600	Weak transcription	Gastric	stomach
6	chr14:31043000-31090600	Weak transcription	Small Intestine	intestine
7	chr14:31045000-31070000	Weak transcription	Aorta	Aorta
8	chr14:31046800-31069800	Weak transcription	Fetal Kidney	kidney
9	chr14:31047000-31069800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr14:31047000-31079600	Weak transcription	Pancreas	Pancrea
11	chr14:31049600-31079600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr14:31050200-31079800	Weak transcription	Brain Angular Gyrus	brain
13	chr14:31050800-31067800	Weak transcription	Ovary	ovary
14	chr14:31051800-31079600	Weak transcription	Fetal Brain Male	brain
15	chr14:31052000-31077400	Weak transcription	Psoas Muscle	Psoas
16	chr14:31053600-31079800	Weak transcription	Brain Substantia Nigra	brain
17	chr14:31053800-31070200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr14:31053800-31090600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr14:31054200-31090400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr14:31054600-31068000	Weak transcription	HSMMtube	muscle
21	chr14:31054800-31072000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr14:31054800-31087200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr14:31055000-31086800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr14:31055400-31069800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:31055400-31070000	Weak transcription	Colonic Mucosa	Colon
26	chr14:31055600-31088000	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr14:31057200-31071800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr14:31057400-31077600	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr14:31057800-31079800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr14:31058400-31080000	Weak transcription	Fetal Heart	heart
31	chr14:31058800-31069800	Weak transcription	Spleen	Spleen
32	chr14:31058800-31074800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr14:31059200-31069400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr14:31059400-31067800	Weak transcription	Colon Smooth Muscle	Colon
35	chr14:31059400-31067800	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr14:31059600-31069200	Weak transcription	NHEK	skin
37	chr14:31059600-31069400	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr14:31059800-31069400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr14:31059800-31080000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr14:31060000-31070000	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr14:31061000-31069400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr14:31061000-31071800	Weak transcription	NHLF	lung
43	chr14:31061400-31070200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr14:31061600-31090400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr14:31062200-31069000	Weak transcription	Fetal Lung	lung
46	chr14:31063000-31069600	Weak transcription	Primary hematopoietic stem cells	blood
47	chr14:31064200-31078200	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr14:31064400-31087800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr14:31064600-31073800	Strong transcription	Primary B cells from cord blood	blood
50	chr14:31064800-31078000	Strong transcription	Primary T helper cells PMA-I stimulated	--

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