Variant report

Variant	rs72722344
Chromosome Location	chr8:131132582-131132583
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:131132241-131132943	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131132549..131136188-chr8:131136344..131140463,4	MCF-7	breast:

Variant related genes	Relation type
ASAP1	TF binding region

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10106205	0.84[EUR][1000 genomes]
rs11774067	1.00[AFR][1000 genomes]
rs11774131	1.00[AFR][1000 genomes];0.86[AMR][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];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11777354	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11778252	1.00[AFR][1000 genomes]
rs11778454	1.00[AFR][1000 genomes];0.81[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];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11781272	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11781294	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11781851	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11781912	1.00[AFR][1000 genomes]
rs11782152	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11782883	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11783071	1.00[AFR][1000 genomes]
rs11783860	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11783940	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11785125	1.00[AFR][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];0.90[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];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4639572	1.00[AFR][1000 genomes];1.00[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];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6991549	1.00[AFR][1000 genomes]
rs7003568	1.00[AFR][1000 genomes];0.95[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];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72722316	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72722318	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72722323	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72722325	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72722339	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72722347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72722349	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72722355	1.00[AFR][1000 genomes];0.90[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]
rs72724437	1.00[AFR][1000 genomes]
rs752716	1.00[AFR][1000 genomes];0.82[AMR][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	chr8:131113000-131142000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:131114400-131138000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr8:131114600-131137200	Strong transcription	A549	lung
5	chr8:131115200-131137600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr8:131115800-131138200	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr8:131116000-131141400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr8:131116000-131141400	Strong transcription	Primary T cells from cord blood	blood
9	chr8:131116000-131193800	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr8:131116600-131133200	Strong transcription	Muscle Satellite Cultured Cells	--
11	chr8:131117400-131132800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr8:131117400-131137200	Strong transcription	NHLF	lung
13	chr8:131117600-131133400	Strong transcription	Fetal Brain Female	brain
14	chr8:131117600-131136800	Strong transcription	Stomach Smooth Muscle	stomach
15	chr8:131118000-131133200	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr8:131118000-131136000	Strong transcription	Thymus	Thymus
17	chr8:131118000-131141000	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr8:131118400-131140400	Strong transcription	Placenta	Placenta
19	chr8:131118400-131140800	Strong transcription	Primary B cells from peripheral blood	blood
20	chr8:131118400-131143600	Weak transcription	Stomach Mucosa	stomach
21	chr8:131118600-131137800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr8:131118600-131140800	Strong transcription	Primary B cells from cord blood	blood
23	chr8:131118800-131140200	Strong transcription	Fetal Thymus	thymus
24	chr8:131118800-131141000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr8:131119000-131137400	Strong transcription	Osteobl	bone
26	chr8:131119200-131133400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr8:131119200-131136000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr8:131119200-131137200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr8:131119200-131138000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr8:131119600-131133800	Strong transcription	Fetal Intestine Large	intestine
31	chr8:131119600-131140800	Strong transcription	Liver	Liver
32	chr8:131120000-131133000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr8:131120000-131133200	Strong transcription	Fetal Lung	lung
34	chr8:131120000-131133600	Strong transcription	HUVEC	blood vessel
35	chr8:131120200-131133400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr8:131121400-131137600	Strong transcription	NHEK	skin
37	chr8:131122000-131133200	Strong transcription	Primary hematopoietic stem cells	blood
38	chr8:131122600-131133200	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr8:131123000-131133600	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr8:131123400-131132800	Strong transcription	Fetal Muscle Leg	muscle
41	chr8:131123400-131136400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr8:131124000-131140800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr8:131124400-131133800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr8:131124800-131138400	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr8:131124800-131145800	Weak transcription	Right Ventricle	heart
46	chr8:131125000-131135000	Weak transcription	Brain Cingulate Gyrus	brain
47	chr8:131125200-131138400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr8:131125600-131141800	Strong transcription	Fetal Muscle Trunk	muscle
49	chr8:131125600-131143600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr8:131125800-131132600	Strong transcription	HSMMtube	muscle

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