Variant report

Variant	rs837080
Chromosome Location	chr8:130925116-130925117
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:130924171..130926476-chr8:131049925..131052466,2	K562	blood:
2	chr8:130920727..130922896-chr8:130924444..130927527,3	K562	blood:
3	chr8:130908195..130912113-chr8:130924701..130928264,3	K562	blood:
4	chr8:130899351..130900915-chr8:130924645..130927634,2	K562	blood:
5	chr8:130921182..130922896-chr8:130924381..130926057,2	K562	blood:
6	chr8:130924765..130927470-chr8:131026924..131028748,2	K562	blood:

Variant related genes	Relation type
ENSG00000153310	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10956502	0.85[ASN][1000 genomes]
rs11984804	0.83[ASN][1000 genomes]
rs167238	1.00[CEU][hapmap];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs167239	0.90[ASN][1000 genomes]
rs16904166	0.83[ASN][1000 genomes]
rs1979477	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2046260	0.96[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2054632	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs212992	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2449415	0.93[CEU][hapmap]
rs2449417	0.96[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2663613	0.96[CEU][hapmap];0.84[YRI][hapmap];0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2663618	0.92[CEU][hapmap];0.91[ASN][1000 genomes]
rs2663619	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs298601	1.00[CEU][hapmap]
rs298602	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs298604	1.00[CEU][hapmap];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs298605	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs298606	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs298607	0.93[CEU][hapmap];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs298609	0.92[CEU][hapmap];0.93[ASN][1000 genomes]
rs298610	0.93[CEU][hapmap];0.93[ASN][1000 genomes]
rs298611	0.92[CEU][hapmap];0.93[ASN][1000 genomes]
rs298612	1.00[CEU][hapmap];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs298613	0.96[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs298614	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs298615	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs298616	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs298617	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs298618	0.92[CEU][hapmap];0.93[ASN][1000 genomes]
rs298619	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs298620	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2989885	0.96[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs367117	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs383209	0.92[CEU][hapmap];0.94[ASN][1000 genomes]
rs384752	0.92[CEU][hapmap];0.94[ASN][1000 genomes]
rs385022	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs389604	0.96[CEU][hapmap];0.87[ASN][1000 genomes]
rs401526	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs412941	0.92[CEU][hapmap];0.87[ASN][1000 genomes]
rs423915	0.88[ASN][1000 genomes]
rs438877	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4395866	0.83[ASN][1000 genomes]
rs476849	0.91[ASN][1000 genomes]
rs59839253	0.82[ASN][1000 genomes]
rs710616	0.92[CEU][hapmap];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs710617	0.92[ASN][1000 genomes]
rs837065	0.85[CEU][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs837075	0.88[ASN][1000 genomes]
rs837076	0.83[AMR][1000 genomes]
rs837079	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs837081	0.96[CEU][hapmap];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs857233	0.93[CEU][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018045	chr8:130863644-131122644	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv1021229	chr8:130887132-131057897	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1017292	chr8:130887132-131107258	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv521998	chr8:130921162-130932427	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130898600-130926200	Weak transcription	Brain Hippocampus Middle	brain
2	chr8:130899400-130925600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr8:130900000-130925200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:130900000-130926200	Weak transcription	Brain Angular Gyrus	brain
5	chr8:130900600-130935000	Weak transcription	Fetal Intestine Small	intestine
6	chr8:130901000-130929200	Weak transcription	Duodenum Mucosa	Duodenum
7	chr8:130901000-130935200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr8:130904000-130930200	Weak transcription	Hela-S3	cervix
9	chr8:130904000-130950600	Weak transcription	HSMM	muscle
10	chr8:130904400-130928600	Weak transcription	Brain Anterior Caudate	brain
11	chr8:130905200-130950000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr8:130907000-130928600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr8:130907800-130929000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr8:130912400-130944600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr8:130912800-130925800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr8:130913400-130946000	Weak transcription	Fetal Thymus	thymus
17	chr8:130913600-130929400	Weak transcription	Primary T cells from cord blood	blood
18	chr8:130914000-130926400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr8:130914400-130925600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr8:130917000-130927400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr8:130917000-130944600	Weak transcription	Primary B cells from peripheral blood	blood
22	chr8:130917400-130928400	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr8:130917600-130951200	Weak transcription	Pancreas	Pancrea
24	chr8:130917800-130926400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr8:130918000-130949400	Weak transcription	GM12878-XiMat	blood
26	chr8:130922400-130930200	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr8:130922400-130933400	Weak transcription	Primary B cells from cord blood	blood
28	chr8:130922400-130936400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr8:130922400-130950600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr8:130922600-130928600	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr8:130922600-130929400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr8:130922800-130927000	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr8:130923000-130925800	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr8:130923000-130925800	Weak transcription	Adipose Nuclei	Adipose
35	chr8:130923000-130926000	Enhancers	A549	lung
36	chr8:130923000-130951000	Weak transcription	Right Atrium	heart
37	chr8:130923200-130925200	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr8:130923200-130925200	Weak transcription	Psoas Muscle	Psoas
39	chr8:130923200-130925800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr8:130923200-130937000	Weak transcription	Left Ventricle	heart
41	chr8:130923200-130941200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr8:130923400-130925200	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr8:130923400-130926800	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr8:130923600-130927200	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr8:130923600-130927600	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr8:130924000-130925200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr8:130924000-130925400	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr8:130924000-130927600	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr8:130924000-130933600	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr8:130924200-130928800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links