Variant report

Variant	rs72722339
Chromosome Location	chr8:131123811-131123812
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10106205	0.84[EUR][1000 genomes]
rs11774067	1.00[AFR][1000 genomes]
rs11774131	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs11774686	1.00[AFR][1000 genomes]
rs11774834	1.00[AFR][1000 genomes]
rs11774917	1.00[AFR][1000 genomes]
rs11775609	1.00[AFR][1000 genomes]
rs11775966	1.00[AFR][1000 genomes]
rs11776863	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11777354	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11778252	1.00[AFR][1000 genomes]
rs11778454	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11778460	1.00[AFR][1000 genomes]
rs11778881	1.00[AFR][1000 genomes]
rs11779191	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs11781272	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs11781294	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs11781851	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs11781912	1.00[AFR][1000 genomes]
rs11782152	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11782883	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs11783071	1.00[AFR][1000 genomes]
rs11783860	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11783940	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs11785172	1.00[AFR][1000 genomes]
rs11785286	1.00[AFR][1000 genomes]
rs11786205	1.00[AFR][1000 genomes]
rs11787251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11787505	1.00[AFR][1000 genomes]
rs28380096	0.95[EUR][1000 genomes]
rs28759724	0.84[EUR][1000 genomes]
rs4319146	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4639572	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6981861	1.00[AFR][1000 genomes]
rs6982030	1.00[AFR][1000 genomes]
rs6989965	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs6991549	1.00[AFR][1000 genomes]
rs7003568	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7006802	1.00[AFR][1000 genomes]
rs7008180	0.93[EUR][1000 genomes]
rs72720387	1.00[AFR][1000 genomes]
rs72720390	1.00[AFR][1000 genomes]
rs72722303	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs72722310	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72722316	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs72722318	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72722323	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72722325	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs72722344	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72722347	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72722349	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72722355	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72722360	1.00[AFR][1000 genomes]
rs72722361	1.00[AFR][1000 genomes]
rs72722368	1.00[AFR][1000 genomes]
rs72722370	1.00[AFR][1000 genomes]
rs72722372	1.00[AFR][1000 genomes]
rs72722374	1.00[AFR][1000 genomes]
rs72722375	1.00[AFR][1000 genomes]
rs72722379	1.00[AFR][1000 genomes]
rs72722380	1.00[AFR][1000 genomes]
rs72722381	1.00[AFR][1000 genomes]
rs72722384	1.00[AFR][1000 genomes]
rs72722386	1.00[AFR][1000 genomes]
rs72722388	1.00[AFR][1000 genomes]
rs72722392	1.00[AFR][1000 genomes]
rs72722394	1.00[AFR][1000 genomes]
rs72722396	1.00[AFR][1000 genomes]
rs72722397	1.00[AFR][1000 genomes]
rs72722399	1.00[AFR][1000 genomes]
rs72724403	1.00[AFR][1000 genomes]
rs72724407	1.00[AFR][1000 genomes]
rs72724414	1.00[AFR][1000 genomes]
rs72724419	1.00[AFR][1000 genomes]
rs72724421	1.00[AFR][1000 genomes]
rs72724423	1.00[AFR][1000 genomes]
rs72724426	1.00[AFR][1000 genomes]
rs752716	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs7826256	1.00[AFR][1000 genomes]
rs929990	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv612231	chr8:130868212-131132592	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv524349	chr8:130868363-131132592	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer 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	15 gene(s)	inside rSNPs	diseases
4	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv465810	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv612234	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 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	chr8:131076200-131170600	Weak transcription	Small Intestine	intestine
2	chr8:131105800-131124000	Weak transcription	Fetal Brain Male	brain
3	chr8:131113000-131142000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:131113400-131128200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr8:131114400-131138000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:131114600-131137200	Strong transcription	A549	lung
7	chr8:131114800-131130800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:131115200-131137600	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr8:131115800-131138200	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr8:131116000-131141400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr8:131116000-131141400	Strong transcription	Primary T cells from cord blood	blood
12	chr8:131116000-131193800	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr8:131116600-131132000	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr8:131116600-131133200	Strong transcription	Muscle Satellite Cultured Cells	--
15	chr8:131116800-131124000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr8:131117400-131130800	Strong transcription	Hela-S3	cervix
17	chr8:131117400-131132800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr8:131117400-131137200	Strong transcription	NHLF	lung
19	chr8:131117600-131133400	Strong transcription	Fetal Brain Female	brain
20	chr8:131117600-131136800	Strong transcription	Stomach Smooth Muscle	stomach
21	chr8:131118000-131125200	Strong transcription	Fetal Muscle Trunk	muscle
22	chr8:131118000-131128600	Strong transcription	Fetal Stomach	stomach
23	chr8:131118000-131130800	Strong transcription	Sigmoid Colon	Sigmoid Colon
24	chr8:131118000-131133200	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr8:131118000-131136000	Strong transcription	Thymus	Thymus
26	chr8:131118000-131141000	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr8:131118200-131129800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr8:131118200-131131000	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr8:131118400-131125000	Strong transcription	HSMM	muscle
30	chr8:131118400-131129200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr8:131118400-131131000	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr8:131118400-131140400	Strong transcription	Placenta	Placenta
33	chr8:131118400-131140800	Strong transcription	Primary B cells from peripheral blood	blood
34	chr8:131118400-131143600	Weak transcription	Stomach Mucosa	stomach
35	chr8:131118600-131137800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr8:131118600-131140800	Strong transcription	Primary B cells from cord blood	blood
37	chr8:131118800-131129600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr8:131118800-131131400	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr8:131118800-131140200	Strong transcription	Fetal Thymus	thymus
40	chr8:131118800-131141000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr8:131119000-131130200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr8:131119000-131137400	Strong transcription	Osteobl	bone
43	chr8:131119200-131125200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr8:131119200-131125200	Strong transcription	NH-A	brain
45	chr8:131119200-131133400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr8:131119200-131136000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr8:131119200-131137200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr8:131119200-131138000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr8:131119400-131124600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr8:131119400-131128400	Strong transcription	Adipose Nuclei	Adipose

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