Variant report

Variant	rs6941276
Chromosome Location	chr6:49406217-49406218
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:47794827..47796539-chr6:49405343..49408041,2	K562	blood:
2	chr6:49404012..49406984-chr6:49407008..49409113,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs4580869	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4585547	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6458692	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72855809	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72855824	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7739169	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7750700	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7759308	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9296615	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9349485	0.82[EUR][1000 genomes]
rs9367354	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9369900	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9369901	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9381786	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9395490	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9395494	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024959	chr6:49290141-49652124	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1021136	chr6:49295037-49631278	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv915806	chr6:49313295-49430422	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6941276	MUT	Cis_1M	lymphoblastoid	RTeQTL
rs6941276	CENPQ	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:49393400-49406400	Weak transcription	Lung	lung
2	chr6:49395200-49406400	Weak transcription	Fetal Intestine Small	intestine
3	chr6:49395200-49406400	Weak transcription	Fetal Stomach	stomach
4	chr6:49395200-49406400	Weak transcription	Gastric	stomach
5	chr6:49395200-49406400	Weak transcription	Spleen	Spleen
6	chr6:49395400-49406400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:49395400-49429800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr6:49395600-49406400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr6:49395600-49406400	Weak transcription	Thymus	Thymus
10	chr6:49395800-49406600	Weak transcription	Colonic Mucosa	Colon
11	chr6:49396000-49420800	Strong transcription	Liver	Liver
12	chr6:49396000-49427400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr6:49396200-49420400	Strong transcription	Adipose Nuclei	Adipose
14	chr6:49396400-49407600	Weak transcription	HSMMtube	muscle
15	chr6:49396400-49429400	Weak transcription	Stomach Mucosa	stomach
16	chr6:49396600-49408800	Strong transcription	Primary T cells from cord blood	blood
17	chr6:49396600-49411000	Weak transcription	Fetal Heart	heart
18	chr6:49396600-49412400	Strong transcription	Skeletal Muscle Female	skeletal muscle
19	chr6:49396800-49406400	Weak transcription	Esophagus	oesophagus
20	chr6:49397000-49413800	Strong transcription	Duodenum Mucosa	Duodenum
21	chr6:49397000-49419800	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr6:49397000-49425800	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr6:49397000-49426600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr6:49397200-49421200	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr6:49397400-49412600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr6:49397400-49425600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr6:49397400-49426000	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr6:49397800-49419800	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr6:49397800-49420000	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr6:49398000-49412600	Strong transcription	Fetal Intestine Large	intestine
31	chr6:49398200-49407800	Weak transcription	Small Intestine	intestine
32	chr6:49398200-49429600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr6:49398400-49425600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr6:49398400-49427200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr6:49398600-49420000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr6:49398800-49408800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr6:49398800-49412600	Strong transcription	Primary B cells from peripheral blood	blood
38	chr6:49398800-49413200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr6:49398800-49418800	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr6:49399000-49407200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr6:49399000-49408200	Weak transcription	K562	blood
42	chr6:49399000-49412600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr6:49399200-49412600	Strong transcription	Fetal Thymus	thymus
44	chr6:49399400-49408600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr6:49399600-49407800	Weak transcription	Hela-S3	cervix
46	chr6:49399600-49408800	Strong transcription	Primary hematopoietic stem cells	blood
47	chr6:49399800-49406400	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr6:49399800-49412400	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr6:49399800-49420800	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr6:49400400-49407400	Weak transcription	HMEC	breast

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