Variant report

Variant	rs28374689
Chromosome Location	chr8:126301441-126301442
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126291827..126293740-chr8:126301224..126303367,2	MCF-7	breast:
2	chr8:126298317..126304061-chr8:126440512..126444095,5	MCF-7	breast:
3	chr8:126290287..126294135-chr8:126298870..126301775,4	K562	blood:
4	chr8:126300520..126302327-chr8:126305625..126307763,2	K562	blood:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10087220	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10088674	1.00[EUR][1000 genomes]
rs10093674	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10096127	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10097356	1.00[EUR][1000 genomes]
rs10099782	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10104564	1.00[EUR][1000 genomes]
rs10105848	1.00[EUR][1000 genomes]
rs10106819	1.00[EUR][1000 genomes]
rs10106935	1.00[EUR][1000 genomes]
rs10106950	1.00[EUR][1000 genomes]
rs10107935	1.00[EUR][1000 genomes]
rs10108634	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10109000	1.00[EUR][1000 genomes]
rs10111309	1.00[EUR][1000 genomes]
rs10481079	1.00[EUR][1000 genomes]
rs10481153	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10481154	1.00[EUR][1000 genomes]
rs11985468	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11988647	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11990560	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11995477	1.00[AMR][1000 genomes]
rs11998130	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11998251	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13439074	1.00[EUR][1000 genomes]
rs16900466	1.00[EUR][1000 genomes]
rs28412398	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28421051	1.00[EUR][1000 genomes]
rs28481333	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28516407	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28609644	1.00[EUR][1000 genomes]
rs28617180	1.00[EUR][1000 genomes]
rs28629877	1.00[EUR][1000 genomes]
rs28676821	1.00[EUR][1000 genomes]
rs28702877	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58585963	1.00[EUR][1000 genomes]
rs7015483	1.00[EUR][1000 genomes]
rs73704566	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704568	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704912	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704916	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704922	1.00[EUR][1000 genomes]
rs7826327	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7844941	1.00[EUR][1000 genomes]
rs9297715	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	esv3419040	chr8:126271495-126339914	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv891436	chr8:126283766-126345076	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126264800-126310600	Weak transcription	Aorta	Aorta
2	chr8:126286200-126301600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr8:126286600-126302200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:126291000-126321600	Weak transcription	Primary B cells from cord blood	blood
5	chr8:126291200-126321000	Weak transcription	Primary B cells from peripheral blood	blood
6	chr8:126295400-126303200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr8:126295600-126302600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr8:126297000-126301600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr8:126298200-126306000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr8:126298400-126303600	Weak transcription	Liver	Liver
11	chr8:126298400-126306600	Weak transcription	Psoas Muscle	Psoas
12	chr8:126298400-126312800	Weak transcription	Gastric	stomach
13	chr8:126299600-126302800	Enhancers	K562	blood
14	chr8:126299600-126304200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr8:126299800-126303200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr8:126300200-126301600	Weak transcription	Fetal Intestine Large	intestine
17	chr8:126300200-126303000	Enhancers	Fetal Heart	heart
18	chr8:126300400-126301800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:126300400-126301800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr8:126300400-126302000	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr8:126300400-126302200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr8:126300400-126303000	Enhancers	HUVEC	blood vessel
23	chr8:126300600-126301800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr8:126300600-126302000	Enhancers	Dnd41	blood
25	chr8:126300600-126302400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr8:126300600-126304400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr8:126300600-126304400	Enhancers	HepG2	liver
28	chr8:126300800-126302400	Enhancers	HSMM	muscle
29	chr8:126301000-126301800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:126301000-126301800	Enhancers	Fetal Muscle Leg	muscle
31	chr8:126301000-126302000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr8:126301000-126302000	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr8:126301000-126302000	Enhancers	Fetal Thymus	thymus
34	chr8:126301000-126302000	Enhancers	NHEK	skin
35	chr8:126301000-126302200	Enhancers	Muscle Satellite Cultured Cells	--
36	chr8:126301000-126302800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr8:126301200-126301600	Weak transcription	Left Ventricle	heart
38	chr8:126301200-126301600	Enhancers	HMEC	breast
39	chr8:126301200-126301800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr8:126301200-126301800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr8:126301200-126301800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr8:126301200-126301800	Enhancers	Primary T cells fromperipheralblood	blood
43	chr8:126301200-126301800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr8:126301200-126301800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr8:126301200-126301800	Enhancers	Pancreas	Pancrea
46	chr8:126301200-126301800	Enhancers	Right Atrium	heart
47	chr8:126301200-126301800	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr8:126301200-126301800	Enhancers	NHLF	lung
49	chr8:126301200-126302000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr8:126301200-126302000	Enhancers	Fetal Lung	lung

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