Variant report

Variant	rs28438992
Chromosome Location	chr11:32924193-32924194
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:32919329..32924286-chr11:32926573..32930323,7	K562	blood:
2	chr11:32919542..32926976-chr11:32927671..32932534,9	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10160349	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10160379	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11032069	0.92[AFR][1000 genomes]
rs12293579	0.92[AFR][1000 genomes]
rs12294145	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758262	chr11:32714643-33049940	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	esv2759815	chr11:32714643-33049940	Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
3	esv2757434	chr11:32792784-32958609	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	esv34742	chr11:32796092-33004024	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	esv2753057	chr11:32796124-33061724	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
6	esv2753743	chr11:32796124-33084924	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
7	nsv897190	chr11:32801921-32951836	Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:32916000-32953200	Weak transcription	Pancreas	Pancrea
2	chr11:32916200-32926800	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr11:32916200-32932400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr11:32916200-32935200	Weak transcription	Aorta	Aorta
5	chr11:32916200-32953200	Weak transcription	Right Ventricle	heart
6	chr11:32916400-32925800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr11:32916400-32925800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr11:32916400-32926600	Weak transcription	Adipose Nuclei	Adipose
9	chr11:32916400-32926600	Weak transcription	Osteobl	bone
10	chr11:32916400-32940000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr11:32916400-32952800	Weak transcription	Fetal Intestine Small	intestine
12	chr11:32916400-32953200	Weak transcription	Primary B cells from peripheral blood	blood
13	chr11:32916400-32953400	Weak transcription	NHLF	lung
14	chr11:32916400-32953600	Weak transcription	NHDF-Ad	bronchial
15	chr11:32916600-32940600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr11:32917000-32925800	Weak transcription	Liver	Liver
17	chr11:32917000-32929600	Weak transcription	HUVEC	blood vessel
18	chr11:32917000-32936000	Weak transcription	Thymus	Thymus
19	chr11:32917000-32952800	Weak transcription	Primary B cells from cord blood	blood
20	chr11:32917200-32926600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr11:32917400-32925400	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr11:32917400-32926600	Weak transcription	Fetal Kidney	kidney
23	chr11:32917400-32926800	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr11:32917400-32951000	Weak transcription	HSMM	muscle
25	chr11:32917400-32953000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr11:32917600-32926200	Weak transcription	Colon Smooth Muscle	Colon
27	chr11:32917600-32926200	Weak transcription	Fetal Lung	lung
28	chr11:32917600-32952800	Weak transcription	Fetal Stomach	stomach
29	chr11:32918000-32953200	Weak transcription	Fetal Brain Female	brain
30	chr11:32918600-32953600	Weak transcription	Fetal Brain Male	brain
31	chr11:32918800-32934600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:32919400-32926400	Weak transcription	Fetal Heart	heart
33	chr11:32919600-32925600	Weak transcription	Ovary	ovary
34	chr11:32919600-32926200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr11:32919600-32953000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr11:32920400-32924200	Strong transcription	Hela-S3	cervix
37	chr11:32921200-32924400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr11:32921200-32952800	Weak transcription	Stomach Smooth Muscle	stomach
39	chr11:32921200-32953200	Weak transcription	Primary T cells from cord blood	blood
40	chr11:32921400-32925400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr11:32921400-32926200	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr11:32921400-32927400	Weak transcription	Fetal Muscle Trunk	muscle
43	chr11:32921400-32932600	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr11:32921400-32951000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr11:32921600-32924600	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr11:32921600-32926000	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr11:32921600-32929600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr11:32921600-32939800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr11:32921600-32940800	Weak transcription	Small Intestine	intestine
50	chr11:32921800-32925800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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