Variant report

Variant	rs548349971
Chromosome Location	chr11:72284791-72284792
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:72193284..72193993-chr11:72284096..72285030,3	K562	blood:
2	chr11:72192764..72194156-chr11:72284059..72285108,15	MCF-7	breast:
3	chr11:72283857..72286700-chr11:72287444..72290426,4	MCF-7	breast:
4	chr11:72182051..72183095-chr11:72284054..72285050,11	MCF-7	breast:
5	chr11:72182044..72183015-chr11:72284099..72284984,4	K562	blood:
6	chr11:72192993..72193929-chr11:72284110..72285074,4	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1794740	chr11:72021720-72332931	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
2	esv1806140	chr11:72268466-72546175	Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
3	esv1832864	chr11:72270965-72389125	Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
4	nsv832207	chr11:72272750-72469122	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
5	nsv468633	chr11:72281884-72336564	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
6	nsv468634	chr11:72281884-72336564	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
7	nsv555406	chr11:72281884-72336564	Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
8	nsv523601	chr11:72281884-72430935	Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
9	nsv468635	chr11:72284569-72336564	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
10	nsv555407	chr11:72284569-72336564	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72269600-72295200	Weak transcription	Right Atrium	heart
2	chr11:72276400-72287800	Weak transcription	Fetal Brain Female	brain
3	chr11:72281400-72287400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr11:72281600-72287400	Weak transcription	Brain Angular Gyrus	brain
5	chr11:72281800-72284800	Weak transcription	Brain Anterior Caudate	brain
6	chr11:72282400-72287600	Weak transcription	Right Ventricle	heart
7	chr11:72282800-72286200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:72282800-72287000	Weak transcription	Left Ventricle	heart
9	chr11:72282800-72295200	Weak transcription	Gastric	stomach
10	chr11:72283000-72292000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:72283200-72288000	Weak transcription	Brain Germinal Matrix	brain
12	chr11:72283600-72285200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:72284000-72284800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr11:72284000-72284800	Enhancers	NHEK	skin
15	chr11:72284000-72285000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr11:72284000-72285800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr11:72284000-72288000	Enhancers	Fetal Intestine Large	intestine
18	chr11:72284200-72284800	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr11:72284200-72284800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr11:72284600-72284800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr11:72284600-72284800	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr11:72284600-72284800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr11:72284600-72284800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
24	chr11:72284600-72284800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr11:72284600-72284800	Enhancers	Muscle Satellite Cultured Cells	--
26	chr11:72284600-72284800	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
27	chr11:72284600-72284800	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr11:72284600-72284800	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr11:72284600-72285000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr11:72284600-72285000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr11:72284600-72285000	Enhancers	Fetal Intestine Small	intestine
32	chr11:72284600-72285000	Enhancers	Fetal Muscle Leg	muscle
33	chr11:72284600-72285000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
34	chr11:72284600-72285000	Enhancers	A549	lung
35	chr11:72284600-72285200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr11:72284600-72285200	Enhancers	Spleen	Spleen
37	chr11:72284600-72285200	Enhancers	HSMMtube	muscle
38	chr11:72284600-72285400	Transcr. at gene 5' and 3'	Hela-S3	cervix
39	chr11:72284600-72286000	Enhancers	HSMM	muscle
40	chr11:72284600-72286200	Enhancers	Placenta Amnion	Placenta Amnion
41	chr11:72284600-72287000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr11:72284600-72287400	Weak transcription	Brain Hippocampus Middle	brain

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