Variant report

Variant	rs298619
Chromosome Location	chr8:130946721-130946722
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:130946597..130949889-chr8:130950104..130952678,5	MCF-7	breast:
2	chr8:130940041..130941780-chr8:130945975..130947990,2	K562	blood:
3	chr8:130944518..130948879-chr8:130950294..130953044,5	MCF-7	breast:
4	chr8:130927294..130929703-chr8:130944717..130947284,2	K562	blood:
5	chr8:130944312..130947357-chr8:130950053..130953536,6	K562	blood:

Variant related genes	Relation type
ENSG00000253720	Chromatin interaction
ENSG00000153310	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11984804	0.81[ASN][1000 genomes]
rs167238	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs167239	0.86[ASN][1000 genomes]
rs16904166	0.81[ASN][1000 genomes]
rs1979477	0.91[ASN][1000 genomes]
rs2046260	0.96[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2054632	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs212992	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2449415	0.93[CEU][hapmap]
rs2449417	0.96[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2663613	0.96[CEU][hapmap];0.85[YRI][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2663618	0.92[CEU][hapmap];0.86[ASN][1000 genomes]
rs2663619	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs298601	1.00[CEU][hapmap]
rs298602	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs298604	1.00[CEU][hapmap];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs298605	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs298606	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs298607	0.93[CEU][hapmap];0.88[ASN][1000 genomes]
rs298609	0.92[CEU][hapmap];0.88[ASN][1000 genomes]
rs298610	0.93[CEU][hapmap];0.88[ASN][1000 genomes]
rs298611	0.92[CEU][hapmap];0.88[ASN][1000 genomes]
rs298612	1.00[CEU][hapmap];0.91[ASN][1000 genomes]
rs298613	0.96[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs298614	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs298615	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs298616	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs298617	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs298618	0.92[CEU][hapmap];0.88[ASN][1000 genomes]
rs298620	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2989885	0.96[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs367117	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs383209	0.92[CEU][hapmap];0.89[ASN][1000 genomes]
rs384752	0.92[CEU][hapmap];0.89[ASN][1000 genomes]
rs385022	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs389604	0.96[CEU][hapmap];0.82[ASN][1000 genomes]
rs401526	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs412941	0.92[CEU][hapmap];0.82[ASN][1000 genomes]
rs423915	0.82[ASN][1000 genomes]
rs438877	0.88[ASN][1000 genomes]
rs4395866	0.81[ASN][1000 genomes]
rs476849	0.96[ASN][1000 genomes]
rs710616	0.92[CEU][hapmap];0.89[ASN][1000 genomes]
rs710617	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs837065	0.85[CEU][hapmap];0.94[YRI][hapmap];0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs837075	0.86[ASN][1000 genomes]
rs837079	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs837080	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]
rs837081	0.96[CEU][hapmap];0.92[ASN][1000 genomes]
rs857233	0.93[CEU][hapmap];0.94[YRI][hapmap];0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130904000-130950600	Weak transcription	HSMM	muscle
2	chr8:130905200-130950000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr8:130917600-130951200	Weak transcription	Pancreas	Pancrea
4	chr8:130918000-130949400	Weak transcription	GM12878-XiMat	blood
5	chr8:130922400-130950600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr8:130923000-130951000	Weak transcription	Right Atrium	heart
7	chr8:130929200-130950600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr8:130929400-130949800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:130929400-130950200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr8:130930600-130950200	Weak transcription	Psoas Muscle	Psoas
11	chr8:130933800-130950800	Weak transcription	Aorta	Aorta
12	chr8:130934200-130950000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr8:130934400-130949400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr8:130934600-130949400	Weak transcription	HepG2	liver
15	chr8:130934600-130950200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr8:130936200-130950600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr8:130936600-130950000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr8:130936800-130950000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr8:130938200-130949600	Weak transcription	K562	blood
20	chr8:130938400-130950200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr8:130938800-130950000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr8:130939200-130950200	Weak transcription	Brain Angular Gyrus	brain
23	chr8:130939600-130950200	Weak transcription	Brain Hippocampus Middle	brain
24	chr8:130939600-130950400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr8:130940800-130950200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr8:130941600-130949400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr8:130941600-130951000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr8:130941800-130949200	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr8:130942200-130949400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr8:130942200-130950600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr8:130942600-130951200	Weak transcription	Gastric	stomach
32	chr8:130943000-130950600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr8:130943000-130950600	Weak transcription	Fetal Muscle Leg	muscle
34	chr8:130943200-130949600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:130943200-130950200	Weak transcription	HSMMtube	muscle
36	chr8:130943200-130950400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr8:130943200-130950600	Weak transcription	Osteobl	bone
38	chr8:130943600-130950000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr8:130943600-130950600	Weak transcription	Thymus	Thymus
40	chr8:130943800-130949400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr8:130943800-130950800	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr8:130944200-130946800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr8:130944200-130946800	Strong transcription	NHEK	skin
44	chr8:130944400-130948000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr8:130944600-130946800	Enhancers	Fetal Intestine Large	intestine
46	chr8:130944600-130947800	Strong transcription	Primary B cells from peripheral blood	blood
47	chr8:130944600-130948000	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr8:130944600-130948000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr8:130944800-130947600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr8:130944800-130950800	Weak transcription	Fetal Stomach	stomach

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