Variant report

Variant	rs59527941
Chromosome Location	chr13:110397072-110397073
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:110394415..110400324-chr13:110434969..110439511,6	K562	blood:
2	chr13:110395852..110397862-chr13:110423883..110426288,2	K562	blood:
3	chr13:110396337..110398183-chr13:110402422..110404262,2	MCF-7	breast:
4	chr13:110394415..110400589-chr13:110436285..110439325,5	K562	blood:

Variant related genes	Relation type
ENSG00000185950	Chromatin interaction

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

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

rs_ID	r²[population]
rs3887823	1.00[AMR][1000 genomes]
rs58060899	1.00[AMR][1000 genomes]
rs58185501	1.00[AMR][1000 genomes]
rs58781450	1.00[AMR][1000 genomes]
rs7323401	1.00[AMR][1000 genomes]
rs7334432	1.00[AMR][1000 genomes]
rs7334580	1.00[AMR][1000 genomes]
rs7996918	1.00[AMR][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	nsv1044855	chr13:110301572-110408608	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv826788	chr13:110381750-110469062	Flanking Bivalent TSS/Enh Genic enhancers Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv826789	chr13:110387268-110473524	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv526943	chr13:110393477-110421884	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv826790	chr13:110395165-110463032	Weak transcription Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110390800-110402200	Weak transcription	HSMM	muscle
2	chr13:110391200-110402600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr13:110391200-110404400	Weak transcription	HSMMtube	muscle
4	chr13:110395200-110397200	Enhancers	Duodenum Mucosa	Duodenum
5	chr13:110395200-110397400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr13:110395400-110397400	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr13:110395400-110397400	Enhancers	HMEC	breast
8	chr13:110395600-110397600	Enhancers	Fetal Lung	lung
9	chr13:110395600-110397600	Enhancers	Placenta	Placenta
10	chr13:110395600-110397600	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr13:110395600-110404000	Weak transcription	Liver	Liver
12	chr13:110396000-110397200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr13:110396000-110397200	Enhancers	Fetal Stomach	stomach
14	chr13:110396000-110397200	Enhancers	NH-A	brain
15	chr13:110396000-110397600	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr13:110396000-110398600	Enhancers	Fetal Heart	heart
17	chr13:110396200-110397200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr13:110396200-110397200	Enhancers	NHLF	lung
19	chr13:110396200-110397400	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr13:110396200-110397400	Enhancers	Brain Anterior Caudate	brain
21	chr13:110396200-110397400	Enhancers	Fetal Brain Male	brain
22	chr13:110396200-110397400	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr13:110396200-110397600	Enhancers	Primary hematopoietic stem cells	blood
24	chr13:110396200-110397600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr13:110396200-110397600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr13:110396200-110397600	Enhancers	Fetal Brain Female	brain
27	chr13:110396200-110397600	Enhancers	Ovary	ovary
28	chr13:110396200-110397600	Bivalent Enhancer	K562	blood
29	chr13:110396200-110397800	Enhancers	Fetal Muscle Leg	muscle
30	chr13:110396200-110398800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr13:110396400-110397200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr13:110396400-110397400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr13:110396400-110397400	Enhancers	Spleen	Spleen
34	chr13:110396400-110397600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr13:110396400-110397600	Enhancers	Right Ventricle	heart
36	chr13:110396400-110401200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr13:110396400-110416400	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr13:110396600-110397200	Flanking Active TSS	Brain Substantia Nigra	brain
39	chr13:110396600-110397200	Flanking Active TSS	Rectal Smooth Muscle	rectum
40	chr13:110396600-110397200	Flanking Active TSS	Stomach Smooth Muscle	stomach
41	chr13:110396600-110397400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr13:110396600-110397400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr13:110396600-110397400	Flanking Active TSS	Colon Smooth Muscle	Colon
44	chr13:110396600-110397400	Enhancers	Fetal Intestine Small	intestine
45	chr13:110396600-110397400	Enhancers	A549	lung
46	chr13:110396600-110397600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr13:110396600-110397600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
48	chr13:110396600-110397600	Enhancers	Left Ventricle	heart
49	chr13:110396600-110402200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr13:110396600-110404000	Weak transcription	Muscle Satellite Cultured Cells	--

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