Variant report

Variant	rs12284370
Chromosome Location	chr11:58968395-58968396
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	chr11:58963712..58965636-chr11:58967051..58969035,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1048696	0.81[CHB][hapmap];0.94[JPT][hapmap];0.80[EUR][1000 genomes]
rs10501375	0.87[JPT][hapmap];0.82[EUR][1000 genomes]
rs10501376	0.87[JPT][hapmap];0.82[EUR][1000 genomes]
rs10896949	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10896950	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11229868	0.87[JPT][hapmap];0.80[EUR][1000 genomes]
rs11229869	0.85[JPT][hapmap];0.82[EUR][1000 genomes]
rs11229870	0.87[JPT][hapmap];0.82[EUR][1000 genomes]
rs11229872	0.82[EUR][1000 genomes]
rs11229873	0.82[EUR][1000 genomes]
rs11229874	0.82[EUR][1000 genomes]
rs11229875	0.82[EUR][1000 genomes]
rs11229889	1.00[CEU][hapmap];0.90[CHB][hapmap];0.88[JPT][hapmap];0.89[EUR][1000 genomes]
rs11229902	0.88[JPT][hapmap]
rs11229903	0.87[JPT][hapmap]
rs11229904	0.87[JPT][hapmap]
rs12223401	0.88[JPT][hapmap]
rs12284698	0.87[AFR][1000 genomes]
rs12576412	0.87[JPT][hapmap]
rs12576879	0.82[EUR][1000 genomes]
rs1938595	0.87[JPT][hapmap]
rs3740946	0.87[JPT][hapmap];0.82[EUR][1000 genomes]
rs3781796	0.82[EUR][1000 genomes]
rs59466005	0.82[EUR][1000 genomes]
rs60265864	0.82[EUR][1000 genomes]
rs7942203	0.87[JPT][hapmap];0.82[EUR][1000 genomes]
rs7951382	1.00[YRI][hapmap];0.89[AFR][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	nsv1050013	chr11:58394598-59221090	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv948365	chr11:58515163-59156405	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	esv2758272	chr11:58700092-59008673	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv2759830	chr11:58700092-59008673	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	esv1821250	chr11:58925860-59059179	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12284370	MPEG1	Cis_1M	lymphoblastoid	RTeQTL
rs12284370	DTX4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58943600-58975400	Weak transcription	NHEK	skin
2	chr11:58949400-58973400	Weak transcription	Right Ventricle	heart
3	chr11:58950000-58978400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:58950400-58972200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr11:58955400-58970800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
6	chr11:58956400-58977400	Weak transcription	Hela-S3	cervix
7	chr11:58958600-58968400	Strong transcription	Sigmoid Colon	Sigmoid Colon
8	chr11:58959400-58968400	Strong transcription	Fetal Intestine Large	intestine
9	chr11:58959400-58968800	Weak transcription	HepG2	liver
10	chr11:58959600-58974600	Strong transcription	Rectal Mucosa Donor 31	rectum
11	chr11:58959800-58968400	Strong transcription	Fetal Intestine Small	intestine
12	chr11:58959800-58968400	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr11:58960400-58974800	Weak transcription	Aorta	Aorta
14	chr11:58962200-58969400	Genic enhancers	Adipose Nuclei	Adipose
15	chr11:58962800-58975000	Genic enhancers	Primary B cells from peripheral blood	blood
16	chr11:58963000-58968800	Weak transcription	Esophagus	oesophagus
17	chr11:58963200-58968400	Weak transcription	Spleen	Spleen
18	chr11:58963200-58972200	Weak transcription	Small Intestine	intestine
19	chr11:58963400-58973800	Weak transcription	Primary T cells from cord blood	blood
20	chr11:58963600-58969000	Genic enhancers	Primary B cells from cord blood	blood
21	chr11:58964200-58968400	Weak transcription	Colonic Mucosa	Colon
22	chr11:58964200-58976000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr11:58964400-58977400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:58964600-58968600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr11:58964600-58968800	Weak transcription	HMEC	breast
26	chr11:58964600-58969200	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr11:58964600-58971800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr11:58964600-58972000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr11:58964800-58968400	Weak transcription	Gastric	stomach
30	chr11:58964800-58968600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr11:58964800-58972200	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr11:58964800-58975600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr11:58965000-58968600	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr11:58965000-58969400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr11:58965200-58968600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr11:58965400-58969400	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr11:58965600-58968400	Strong transcription	Placenta	Placenta
38	chr11:58965600-58968800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr11:58965600-58972000	Weak transcription	Rectal Smooth Muscle	rectum
40	chr11:58965800-58968400	Strong transcription	Liver	Liver
41	chr11:58965800-58968400	Weak transcription	Ovary	ovary
42	chr11:58965800-58968600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr11:58965800-58969000	Weak transcription	Lung	lung
44	chr11:58965800-58969000	Weak transcription	Psoas Muscle	Psoas
45	chr11:58965800-58969200	Weak transcription	Fetal Kidney	kidney
46	chr11:58965800-58972000	Weak transcription	Pancreas	Pancrea
47	chr11:58965800-58972200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr11:58965800-58972200	Weak transcription	Stomach Smooth Muscle	stomach
49	chr11:58965800-58978000	Weak transcription	Left Ventricle	heart
50	chr11:58966000-58968400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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