Variant report

Variant	rs540612100
Chromosome Location	chr11:47404154-47404155
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	chr11:47395359..47404298-chr11:47408556..47417905,22	K562	blood:
2	chr11:47391440..47404809-chr11:47427075..47436409,23	K562	blood:

Variant related genes	Relation type
ENSG00000255197	Chromatin interaction
ENSG00000165915	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv917316	chr11:47232210-47448882	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	esv3330173	chr11:47289256-47450681	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	esv3416377	chr11:47289276-47450651	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv832141	chr11:47333180-47520993	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	nsv825871	chr11:47376020-47457537	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv554210	chr11:47380593-47449544	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
8	nsv541034	chr11:47404083-47440081	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47395200-47410000	Weak transcription	Gastric	stomach
2	chr11:47399400-47404200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr11:47399400-47421400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr11:47399800-47404200	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr11:47399800-47405000	Weak transcription	Right Atrium	heart
6	chr11:47399800-47405800	Weak transcription	Brain Angular Gyrus	brain
7	chr11:47399800-47421200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr11:47400000-47404200	Weak transcription	Adipose Nuclei	Adipose
9	chr11:47400000-47410000	Weak transcription	Brain Hippocampus Middle	brain
10	chr11:47400000-47415200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr11:47400000-47416000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr11:47400000-47416800	Weak transcription	Brain Anterior Caudate	brain
13	chr11:47400000-47421200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr11:47400600-47404200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:47400600-47409800	Weak transcription	Fetal Muscle Leg	muscle
16	chr11:47400800-47404200	Weak transcription	Fetal Thymus	thymus
17	chr11:47401200-47404400	Weak transcription	Primary B cells from cord blood	blood
18	chr11:47401400-47404200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr11:47401400-47404200	Weak transcription	K562	blood
20	chr11:47402600-47409400	Weak transcription	Esophagus	oesophagus
21	chr11:47403200-47405400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
22	chr11:47403400-47404200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr11:47403400-47405000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr11:47403600-47405400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr11:47404000-47404400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr11:47404000-47404400	Bivalent Enhancer	Placenta	Placenta
27	chr11:47404000-47404600	Enhancers	HUVEC	blood vessel
28	chr11:47404000-47404800	Enhancers	Spleen	Spleen
29	chr11:47404000-47405200	Enhancers	Lung	lung
30	chr11:47404000-47405400	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
31	chr11:47404000-47405800	Genic enhancers	Primary monocytes fromperipheralblood	blood

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