Variant report

Variant	rs73254583
Chromosome Location	chr14:31205873-31205874
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31204344..31206042-chr14:31207737..31209935,2	K562	blood:

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

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

rs_ID	r²[population]
rs57216699	0.97[AFR][1000 genomes]
rs57549139	0.83[AFR][1000 genomes]
rs57618174	0.83[AFR][1000 genomes]
rs57677010	0.83[AFR][1000 genomes]
rs58653311	1.00[AFR][1000 genomes]
rs60350877	0.83[AFR][1000 genomes]
rs60353606	0.83[AFR][1000 genomes]
rs60362029	0.83[AFR][1000 genomes]
rs60727186	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7157286	0.93[AFR][1000 genomes]
rs73251132	0.83[AFR][1000 genomes]
rs73251134	0.83[AFR][1000 genomes]
rs73251145	0.83[AFR][1000 genomes]
rs73251146	0.83[AFR][1000 genomes]
rs73251151	0.97[AFR][1000 genomes]
rs73251156	0.97[AFR][1000 genomes]
rs73251167	0.90[AFR][1000 genomes]
rs73251169	0.97[AFR][1000 genomes]
rs73251177	0.97[AFR][1000 genomes]
rs73251179	0.97[AFR][1000 genomes]
rs73251181	0.97[AFR][1000 genomes]
rs73251184	0.97[AFR][1000 genomes]
rs73251188	0.97[AFR][1000 genomes]
rs73251199	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73253017	1.00[AFR][1000 genomes]
rs73254546	1.00[AFR][1000 genomes]
rs73254548	1.00[AFR][1000 genomes]
rs73254552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73254553	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73254554	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73254555	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73254556	1.00[AFR][1000 genomes]
rs73254558	0.96[AFR][1000 genomes]
rs73254560	1.00[AFR][1000 genomes]
rs73254565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73254568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73254580	1.00[AFR][1000 genomes]
rs73254586	1.00[AFR][1000 genomes]
rs73254588	1.00[AFR][1000 genomes]
rs73254589	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73255979	0.83[AFR][1000 genomes]
rs73255992	0.83[AFR][1000 genomes]
rs73258111	0.83[AFR][1000 genomes]
rs73258118	0.83[AFR][1000 genomes]
rs73258119	0.83[AFR][1000 genomes]
rs73260537	0.83[AMR][1000 genomes]
rs73264309	0.83[AFR][1000 genomes]
rs73264311	0.83[AFR][1000 genomes]
rs73264321	0.83[AFR][1000 genomes]
rs73264329	0.83[AFR][1000 genomes]
rs73264330	0.83[AFR][1000 genomes]
rs73264333	0.83[AFR][1000 genomes]
rs73264341	0.83[AFR][1000 genomes]
rs73264346	0.83[AFR][1000 genomes]
rs73264352	0.83[AFR][1000 genomes]
rs73264362	0.83[AFR][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:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31123000-31212000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr14:31123400-31216400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr14:31160000-31206600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:31160000-31207200	Weak transcription	Right Ventricle	heart
5	chr14:31160800-31206200	Weak transcription	Small Intestine	intestine
6	chr14:31165000-31208200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr14:31166400-31214200	Weak transcription	Pancreas	Pancrea
8	chr14:31168200-31206000	Weak transcription	Gastric	stomach
9	chr14:31168200-31208600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr14:31179000-31207400	Weak transcription	Fetal Kidney	kidney
11	chr14:31181600-31207000	Weak transcription	Hela-S3	cervix
12	chr14:31186400-31206200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr14:31193000-31207200	Weak transcription	Brain Germinal Matrix	brain
14	chr14:31193000-31207800	Weak transcription	A549	lung
15	chr14:31196000-31207400	Weak transcription	Colon Smooth Muscle	Colon
16	chr14:31196000-31208800	Weak transcription	HUVEC	blood vessel
17	chr14:31196200-31208600	Weak transcription	Spleen	Spleen
18	chr14:31196400-31208400	Weak transcription	Lung	lung
19	chr14:31196400-31216800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr14:31197600-31207800	Weak transcription	K562	blood
21	chr14:31197600-31208000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr14:31197800-31207000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr14:31198200-31206000	Weak transcription	Aorta	Aorta
24	chr14:31199200-31207200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr14:31199400-31208200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr14:31199400-31208600	Weak transcription	Fetal Stomach	stomach
27	chr14:31199400-31209000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr14:31199400-31213400	Weak transcription	Brain Substantia Nigra	brain
29	chr14:31201200-31206200	Strong transcription	Primary B cells from cord blood	blood
30	chr14:31201200-31206200	Strong transcription	HepG2	liver
31	chr14:31201200-31206200	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr14:31201400-31206200	Strong transcription	Liver	Liver
33	chr14:31201600-31206200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr14:31201600-31206400	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr14:31201800-31206200	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr14:31201800-31206400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr14:31202200-31206200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr14:31202400-31206000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr14:31202400-31206200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr14:31202400-31206200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr14:31202400-31206200	Strong transcription	Primary T cells from cord blood	blood
42	chr14:31202400-31206200	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr14:31202400-31206200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr14:31202400-31206200	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr14:31202400-31206200	Strong transcription	Dnd41	blood
46	chr14:31202400-31206200	Strong transcription	HSMM	muscle
47	chr14:31202400-31206400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr14:31202400-31208200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr14:31202600-31206000	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr14:31202600-31206000	Strong transcription	Primary T helper cells fromperipheralblood	blood

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