Variant report

Variant	rs73251199
Chromosome Location	chr14:31139209-31139210
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
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]
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]
rs73254583	1.00[AFR][1000 genomes];1.00[AMR][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: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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31093800-31159600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:31094200-31145200	Weak transcription	Small Intestine	intestine
3	chr14:31096000-31167400	Weak transcription	Gastric	stomach
4	chr14:31110600-31141800	Weak transcription	Stomach Mucosa	stomach
5	chr14:31113800-31205400	Weak transcription	Fetal Brain Male	brain
6	chr14:31115000-31167600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr14:31115200-31159600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr14:31119000-31153200	Weak transcription	Right Ventricle	heart
9	chr14:31121600-31159600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr14:31122400-31159600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr14:31122600-31141400	Weak transcription	Psoas Muscle	Psoas
12	chr14:31122600-31152200	Weak transcription	Spleen	Spleen
13	chr14:31122800-31205200	Weak transcription	Brain Angular Gyrus	brain
14	chr14:31123000-31212000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr14:31123400-31216400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr14:31123600-31159800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr14:31123600-31165400	Weak transcription	Colonic Mucosa	Colon
18	chr14:31124400-31148200	Weak transcription	Brain Substantia Nigra	brain
19	chr14:31124400-31152600	Weak transcription	Brain Hippocampus Middle	brain
20	chr14:31124400-31160200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr14:31124400-31171400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr14:31125000-31159600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr14:31125200-31152400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr14:31125200-31170000	Weak transcription	Colon Smooth Muscle	Colon
25	chr14:31125400-31152400	Weak transcription	Stomach Smooth Muscle	stomach
26	chr14:31125400-31160000	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr14:31126000-31139800	Weak transcription	K562	blood
28	chr14:31126200-31151800	Weak transcription	NHLF	lung
29	chr14:31126400-31142800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr14:31126400-31151200	Weak transcription	HMEC	breast
31	chr14:31128200-31142400	Weak transcription	HUVEC	blood vessel
32	chr14:31128200-31144800	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr14:31128200-31152200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr14:31128200-31152400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr14:31128200-31164600	Weak transcription	Brain Anterior Caudate	brain
36	chr14:31128200-31165600	Weak transcription	HSMMtube	muscle
37	chr14:31130800-31142800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr14:31130800-31142800	Weak transcription	Fetal Thymus	thymus
39	chr14:31131600-31139800	Weak transcription	NH-A	brain
40	chr14:31131600-31151200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr14:31131800-31139800	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr14:31131800-31144200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr14:31132000-31139800	Weak transcription	Primary hematopoietic stem cells	blood
44	chr14:31132200-31148800	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr14:31132400-31160400	Weak transcription	Hela-S3	cervix
46	chr14:31133000-31140800	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr14:31133000-31143000	Weak transcription	Placenta	Placenta
48	chr14:31133200-31160600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr14:31133400-31140800	Weak transcription	NHEK	skin
50	chr14:31133400-31142800	Weak transcription	Dnd41	blood

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