Variant report

Variant	rs57216699
Chromosome Location	chr14:31123847-31123848
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:31122938..31124536-chr14:31343628..31346007,2	K562	blood:
2	chr14:31121612..31124772-chr14:31129285..31132285,3	K562	blood:
3	chr14:31122619..31124772-chr14:31129333..31132285,2	K562	blood:

Variant related genes	Relation type
ENSG00000100473	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs12100621	1.00[AMR][1000 genomes]
rs57549139	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57618174	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57677010	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58653311	0.97[AFR][1000 genomes]
rs60350877	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60353606	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60362029	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60727186	0.97[AFR][1000 genomes]
rs7157286	0.90[AFR][1000 genomes]
rs73251132	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251134	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251145	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251146	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251151	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251156	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251167	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251168	1.00[AMR][1000 genomes]
rs73251169	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251177	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251179	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251181	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251184	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251188	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251199	0.97[AFR][1000 genomes]
rs73253017	0.97[AFR][1000 genomes]
rs73254546	0.97[AFR][1000 genomes]
rs73254548	0.97[AFR][1000 genomes]
rs73254552	0.97[AFR][1000 genomes]
rs73254553	0.97[AFR][1000 genomes]
rs73254554	0.97[AFR][1000 genomes]
rs73254555	0.97[AFR][1000 genomes]
rs73254556	0.97[AFR][1000 genomes]
rs73254558	0.93[AFR][1000 genomes]
rs73254560	0.97[AFR][1000 genomes]
rs73254565	0.97[AFR][1000 genomes]
rs73254568	0.97[AFR][1000 genomes]
rs73254580	0.97[AFR][1000 genomes]
rs73254583	0.97[AFR][1000 genomes]
rs73254586	0.97[AFR][1000 genomes]
rs73254588	0.97[AFR][1000 genomes]
rs73254589	0.97[AFR][1000 genomes]
rs73255979	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73255992	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73258111	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73258118	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73258119	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264309	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264311	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264321	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264329	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264330	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264333	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264341	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264346	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264352	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264358	1.00[AMR][1000 genomes]
rs73264362	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	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
4	nsv564171	chr14:31068090-31149630	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 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	chr14:31092200-31133200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:31092200-31133200	Weak transcription	Esophagus	oesophagus
3	chr14:31093600-31127200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr14:31093800-31159600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:31094200-31145200	Weak transcription	Small Intestine	intestine
6	chr14:31096000-31167400	Weak transcription	Gastric	stomach
7	chr14:31097200-31133800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr14:31099600-31133800	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr14:31099600-31134000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr14:31102800-31128800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr14:31104200-31133200	Weak transcription	Aorta	Aorta
12	chr14:31109400-31125200	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr14:31109400-31125800	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr14:31110600-31141800	Weak transcription	Stomach Mucosa	stomach
15	chr14:31113800-31205400	Weak transcription	Fetal Brain Male	brain
16	chr14:31114400-31134000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr14:31115000-31124000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr14:31115000-31124800	Strong transcription	Primary B cells from peripheral blood	blood
19	chr14:31115000-31124800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr14:31115000-31133400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr14:31115000-31167600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr14:31115200-31125400	Strong transcription	HepG2	liver
23	chr14:31115200-31138600	Weak transcription	Fetal Heart	heart
24	chr14:31115200-31159600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr14:31115400-31125000	Weak transcription	Brain Germinal Matrix	brain
26	chr14:31115400-31133000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr14:31115400-31133200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr14:31115600-31130600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr14:31116000-31126400	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr14:31116400-31133800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr14:31116600-31128800	Weak transcription	Right Atrium	heart
32	chr14:31116800-31132800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr14:31117200-31130600	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr14:31117200-31134000	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr14:31117400-31125400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr14:31117600-31133600	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr14:31117600-31133800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr14:31117800-31125000	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr14:31117800-31125200	Strong transcription	Adipose Nuclei	Adipose
40	chr14:31117800-31126200	Strong transcription	NHLF	lung
41	chr14:31117800-31126400	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr14:31117800-31126400	Strong transcription	Duodenum Mucosa	Duodenum
43	chr14:31117800-31126400	Strong transcription	Fetal Intestine Large	intestine
44	chr14:31117800-31126400	Strong transcription	Placenta	Placenta
45	chr14:31117800-31126400	Strong transcription	Osteobl	bone
46	chr14:31117800-31126600	Strong transcription	Dnd41	blood
47	chr14:31117800-31132800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr14:31117800-31134000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr14:31118000-31126400	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr14:31118200-31125000	Strong transcription	Liver	Liver

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