Variant report

Variant	rs73254589
Chromosome Location	chr14:31208845-31208846
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	chr14:31204344..31206042-chr14:31207737..31209935,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

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];1.00[ASN][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]
rs73254583	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73254586	1.00[AFR][1000 genomes]
rs73254588	1.00[AFR][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]
rs74040941	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	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:32 , 50 per page) page: 1

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	chr14:31166400-31214200	Weak transcription	Pancreas	Pancrea
4	chr14:31196400-31216800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr14:31199400-31209000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr14:31199400-31213400	Weak transcription	Brain Substantia Nigra	brain
7	chr14:31205800-31209200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr14:31206000-31209000	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr14:31206000-31210000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr14:31206000-31210200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr14:31206000-31213000	Weak transcription	HSMMtube	muscle
12	chr14:31206200-31209000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr14:31206200-31209000	Weak transcription	HSMM	muscle
14	chr14:31206200-31209000	Weak transcription	NHLF	lung
15	chr14:31206200-31209200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr14:31206200-31209200	Weak transcription	HepG2	liver
17	chr14:31206200-31209400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr14:31206200-31209600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr14:31206200-31209800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr14:31206200-31209800	Weak transcription	Stomach Smooth Muscle	stomach
21	chr14:31206200-31210000	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr14:31206200-31210000	Weak transcription	Osteobl	bone
23	chr14:31206200-31210400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr14:31206200-31212800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr14:31206200-31212800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr14:31206200-31216600	Weak transcription	Brain Anterior Caudate	brain
27	chr14:31206400-31210800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr14:31206400-31211400	Weak transcription	Adipose Nuclei	Adipose
29	chr14:31206600-31210400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr14:31207000-31209600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr14:31208200-31210400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr14:31208800-31209000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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