Variant report

Variant	rs284919
Chromosome Location	chr6:119150813-119150814
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11153778	0.82[CEU][hapmap]
rs2051056	0.94[CHB][hapmap]
rs2051057	0.94[CHB][hapmap]
rs2295709	0.95[CEU][hapmap];0.89[CHB][hapmap];0.83[EUR][1000 genomes]
rs2884078	0.83[CHB][hapmap]
rs415441	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4946383	0.94[CHB][hapmap]
rs6929403	0.84[JPT][hapmap]
rs7743045	0.85[JPT][hapmap]
rs7772912	0.82[CEU][hapmap]
rs794262	0.88[CHB][hapmap]
rs794614	0.95[CEU][hapmap];0.94[CHB][hapmap];0.81[EUR][1000 genomes]
rs9374757	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs9374777	0.83[CHB][hapmap]
rs9387609	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs9401090	0.83[ASN][1000 genomes]
rs9401101	0.82[CEU][hapmap]
rs9401118	0.83[CHB][hapmap]
rs988098	0.82[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020405	chr6:118786586-119241006	ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1023826	chr6:119026481-119221408	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs284919	MCM9	cis	Lymphoblastoid	GTEx
rs284919	MCMDC1	cis	multi-tissue	Pritchard

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119128600-119151600	Weak transcription	Colonic Mucosa	Colon
2	chr6:119133400-119151800	Weak transcription	Fetal Kidney	kidney
3	chr6:119135400-119151000	Weak transcription	NH-A	brain
4	chr6:119135400-119151400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr6:119135800-119151000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr6:119143200-119151000	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr6:119143400-119151200	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr6:119144200-119154400	Weak transcription	Brain Germinal Matrix	brain
9	chr6:119144600-119151800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr6:119144800-119152000	Weak transcription	Spleen	Spleen
11	chr6:119144800-119160400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr6:119144800-119173800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:119146400-119151200	Strong transcription	Primary B cells from peripheral blood	blood
14	chr6:119146600-119151000	Strong transcription	Primary B cells from cord blood	blood
15	chr6:119147400-119154200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr6:119147600-119151600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr6:119147600-119151800	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr6:119147600-119152000	Weak transcription	Right Ventricle	heart
19	chr6:119147600-119152000	Weak transcription	NHEK	skin
20	chr6:119147600-119197000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr6:119147800-119154200	Weak transcription	Stomach Mucosa	stomach
22	chr6:119147800-119155400	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr6:119147800-119160800	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr6:119147800-119162600	Weak transcription	Lung	lung
25	chr6:119147800-119164800	Weak transcription	Colon Smooth Muscle	Colon
26	chr6:119147800-119167600	Weak transcription	Psoas Muscle	Psoas
27	chr6:119147800-119182000	Weak transcription	Gastric	stomach
28	chr6:119148200-119151000	Weak transcription	A549	lung
29	chr6:119148200-119151200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr6:119148200-119176000	Weak transcription	HSMM	muscle
31	chr6:119149200-119164800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr6:119149200-119164800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr6:119149400-119151000	Weak transcription	Brain Angular Gyrus	brain
34	chr6:119149400-119151000	Weak transcription	Brain Anterior Caudate	brain
35	chr6:119149400-119151200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr6:119149400-119151200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr6:119149400-119151200	Weak transcription	HMEC	breast
38	chr6:119149400-119151800	Weak transcription	Brain Cingulate Gyrus	brain
39	chr6:119149400-119157000	Weak transcription	Primary hematopoietic stem cells	blood
40	chr6:119149400-119160600	Weak transcription	Thymus	Thymus
41	chr6:119149400-119165400	Weak transcription	Rectal Smooth Muscle	rectum
42	chr6:119149400-119168600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr6:119149400-119177600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr6:119149400-119180600	Weak transcription	Small Intestine	intestine
45	chr6:119149600-119151200	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr6:119149600-119151800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr6:119149600-119151800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr6:119149600-119151800	Weak transcription	Brain Hippocampus Middle	brain
49	chr6:119149800-119151600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr6:119149800-119169600	Weak transcription	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links