Variant report

Variant	rs2275991
Chromosome Location	chr11:58956702-58956703
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:58955219..58957348-chr11:58960452..58962084,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs491558	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4938914	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs562451	1.00[AFR][1000 genomes]
rs6591511	0.91[ASN][1000 genomes]
rs6591518	0.86[ASN][1000 genomes]
rs679460	1.00[EUR][1000 genomes]
rs7119212	0.84[ASN][1000 genomes]
rs7928225	0.91[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	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

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58941600-58964000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:58943600-58975400	Weak transcription	NHEK	skin
3	chr11:58949400-58973400	Weak transcription	Right Ventricle	heart
4	chr11:58950000-58978400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:58950200-58958600	Weak transcription	Aorta	Aorta
6	chr11:58950400-58957400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr11:58950400-58972200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr11:58950800-58957400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr11:58950800-58957800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr11:58951400-58957200	Enhancers	Placenta	Placenta
11	chr11:58951600-58957800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr11:58951800-58957200	Enhancers	Adipose Nuclei	Adipose
13	chr11:58952400-58960200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr11:58952600-58957600	Enhancers	Lung	lung
15	chr11:58952800-58959400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr11:58953400-58958600	Genic enhancers	Fetal Kidney	kidney
17	chr11:58953600-58957800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr11:58953600-58960800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr11:58953800-58956800	Enhancers	Stomach Mucosa	stomach
20	chr11:58953800-58957600	Genic enhancers	Fetal Stomach	stomach
21	chr11:58953800-58959400	Genic enhancers	Fetal Intestine Large	intestine
22	chr11:58953800-58959800	Genic enhancers	Fetal Intestine Small	intestine
23	chr11:58954000-58956800	Weak transcription	HMEC	breast
24	chr11:58954200-58960000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr11:58954200-58962400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:58954200-58962600	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr11:58954200-58962800	Strong transcription	Primary B cells from peripheral blood	blood
28	chr11:58954200-58963400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr11:58954200-58964000	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr11:58954400-58960600	Strong transcription	Brain Germinal Matrix	brain
31	chr11:58954400-58965200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr11:58954600-58958000	Enhancers	Small Intestine	intestine
33	chr11:58954600-58963000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:58954600-58966200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr11:58954800-58957000	Genic enhancers	HSMM	muscle
36	chr11:58954800-58958000	Weak transcription	HepG2	liver
37	chr11:58954800-58959800	Weak transcription	Colon Smooth Muscle	Colon
38	chr11:58954800-58959800	Genic enhancers	Rectal Mucosa Donor 29	rectum
39	chr11:58954800-58963800	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr11:58955000-58963000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr11:58955000-58967200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr11:58955200-58963000	Weak transcription	Primary hematopoietic stem cells	blood
43	chr11:58955200-58965400	Strong transcription	Fetal Brain Female	brain
44	chr11:58955400-58957400	Genic enhancers	Liver	Liver
45	chr11:58955400-58957400	Weak transcription	Right Atrium	heart
46	chr11:58955400-58963600	Strong transcription	Primary B cells from cord blood	blood
47	chr11:58955400-58966000	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr11:58955400-58966000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr11:58955400-58970800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr11:58955600-58957600	Genic enhancers	Fetal Muscle Leg	muscle

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