Variant report

Variant	rs73251169
Chromosome Location	chr14:31112818-31112819
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31090592..31093500-chr14:31111639..31114381,2	K562	blood:

Variant related genes	Relation type
ENSG00000092108	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]
rs57216699	1.00[AFR][1000 genomes];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]
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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31092200-31121000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr14:31092200-31133200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:31092200-31133200	Weak transcription	Esophagus	oesophagus
4	chr14:31092400-31122800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr14:31092800-31113200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr14:31092800-31114200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr14:31093600-31127200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr14:31093800-31113800	Weak transcription	Brain Substantia Nigra	brain
9	chr14:31093800-31159600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr14:31094000-31113200	Weak transcription	Fetal Brain Male	brain
11	chr14:31094000-31122000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr14:31094200-31121000	Weak transcription	Spleen	Spleen
13	chr14:31094200-31145200	Weak transcription	Small Intestine	intestine
14	chr14:31095200-31119200	Weak transcription	Colonic Mucosa	Colon
15	chr14:31095600-31114400	Weak transcription	Fetal Heart	heart
16	chr14:31095800-31121000	Weak transcription	Ovary	ovary
17	chr14:31095800-31121000	Weak transcription	Thymus	Thymus
18	chr14:31096000-31116600	Weak transcription	Lung	lung
19	chr14:31096000-31121000	Weak transcription	Pancreas	Pancrea
20	chr14:31096000-31167400	Weak transcription	Gastric	stomach
21	chr14:31096200-31113200	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr14:31097200-31133800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr14:31099600-31113000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:31099600-31113200	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr14:31099600-31113200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr14:31099600-31113600	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr14:31099600-31113600	Strong transcription	HSMM	muscle
28	chr14:31099600-31114200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr14:31099600-31114400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr14:31099600-31133800	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr14:31099600-31134000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr14:31100000-31113000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr14:31100600-31123600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr14:31102000-31123600	Strong transcription	NHDF-Ad	bronchial
35	chr14:31102200-31113200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr14:31102200-31113200	Strong transcription	HepG2	liver
37	chr14:31102200-31115200	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr14:31102400-31121000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr14:31102800-31128800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr14:31104000-31113000	Weak transcription	Brain Germinal Matrix	brain
41	chr14:31104000-31113200	Weak transcription	Psoas Muscle	Psoas
42	chr14:31104000-31121200	Weak transcription	NHEK	skin
43	chr14:31104200-31113200	Weak transcription	Brain Angular Gyrus	brain
44	chr14:31104200-31121200	Weak transcription	Brain Cingulate Gyrus	brain
45	chr14:31104200-31133200	Weak transcription	Aorta	Aorta
46	chr14:31104400-31113200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr14:31104600-31113200	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr14:31104600-31114600	Weak transcription	Rectal Smooth Muscle	rectum
49	chr14:31104800-31113200	Weak transcription	Brain Anterior Caudate	brain
50	chr14:31104800-31113200	Weak transcription	Stomach Smooth Muscle	stomach

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