Variant report

Variant	rs9634594
Chromosome Location	chr13:111180445-111180446
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:111175089..111177508-chr13:111178295..111180453,3	MCF-7	breast:
2	chr13:111159240..111160758-chr13:111178996..111181011,2	K562	blood:
3	chr13:111178399..111181198-chr13:111366491..111368547,2	MCF-7	breast:
4	chr13:111175845..111178130-chr13:111179058..111181317,2	K562	blood:
5	chr13:111180150..111181818-chr13:111197794..111200126,2	MCF-7	breast:
6	chr13:111178113..111180928-chr13:111206960..111210358,3	MCF-7	breast:
7	chr13:111176916..111182382-chr13:111206819..111214349,14	MCF-7	breast:
8	chr13:111178065..111180954-chr13:111183980..111185741,2	MCF-7	breast:
9	chr13:111175360..111178796-chr13:111180023..111183032,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000134871	Chromatin interaction
ENSG00000232814	Chromatin interaction
ENSG00000153487	Chromatin interaction
ENSG00000139832	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1318377	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1886871	0.80[AMR][1000 genomes]
rs2182272	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs331595	0.80[AMR][1000 genomes]
rs331598	0.80[AMR][1000 genomes]
rs331599	0.80[AMR][1000 genomes]
rs413695	0.96[EUR][1000 genomes]
rs422183	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4771690	0.91[EUR][1000 genomes]
rs6492283	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6492284	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs912945	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs927793	0.90[EUR][1000 genomes]
rs942921	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038914	chr13:110860219-111190104	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1046423	chr13:110936104-111286607	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv832720	chr13:111100235-111295993	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv1046291	chr13:111125747-111257861	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv1045143	chr13:111126822-111242791	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv1044234	chr13:111143053-111370580	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	216 gene(s)	inside rSNPs	diseases
7	nsv949634	chr13:111151460-111582996	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
8	nsv901010	chr13:111165390-111286592	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv1053922	chr13:111167764-111330876	Flanking Active TSS Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv1043849	chr13:111167764-111340418	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
11	nsv541924	chr13:111167764-111340418	Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer 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	25 gene(s)	inside rSNPs	diseases
12	nsv1036160	chr13:111167764-111347308	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
13	nsv541925	chr13:111167764-111347308	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer 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	25 gene(s)	inside rSNPs	diseases
14	nsv901011	chr13:111168951-111280002	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111160800-111209600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr13:111167000-111190800	Weak transcription	Fetal Kidney	kidney
3	chr13:111173400-111183200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr13:111175200-111182000	Enhancers	Fetal Heart	heart
5	chr13:111176000-111182400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr13:111176000-111185800	Enhancers	Stomach Mucosa	stomach
7	chr13:111176200-111182000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr13:111176400-111182400	Enhancers	Adipose Nuclei	Adipose
9	chr13:111176400-111182400	Enhancers	Pancreas	Pancrea
10	chr13:111176600-111180600	Enhancers	Lung	lung
11	chr13:111176600-111182000	Enhancers	Fetal Intestine Large	intestine
12	chr13:111176800-111180600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr13:111177200-111181200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr13:111177200-111182400	Enhancers	Liver	Liver
15	chr13:111177400-111180600	Enhancers	H1 Cell Line	embryonic stem cell
16	chr13:111177400-111182200	Enhancers	Placenta	Placenta
17	chr13:111177600-111182000	Weak transcription	Brain Substantia Nigra	brain
18	chr13:111178000-111181400	Weak transcription	Brain Hippocampus Middle	brain
19	chr13:111178200-111181000	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr13:111178600-111181000	Weak transcription	Primary hematopoietic stem cells	blood
21	chr13:111178600-111181200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr13:111178600-111183000	Weak transcription	Primary B cells from peripheral blood	blood
23	chr13:111178600-111188000	Weak transcription	Primary B cells from cord blood	blood
24	chr13:111179000-111182400	Enhancers	HepG2	liver
25	chr13:111179200-111182600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr13:111179200-111183600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr13:111179200-111183800	Weak transcription	GM12878-XiMat	blood
28	chr13:111179400-111180600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr13:111179400-111181000	Enhancers	Placenta Amnion	Placenta Amnion
30	chr13:111179400-111182400	Genic enhancers	Fetal Intestine Small	intestine
31	chr13:111179600-111180600	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr13:111179600-111180600	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr13:111179600-111182000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr13:111179600-111182200	Enhancers	Spleen	Spleen
35	chr13:111179600-111182600	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr13:111179800-111181200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr13:111179800-111181200	Weak transcription	Brain Cingulate Gyrus	brain
38	chr13:111179800-111181400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr13:111179800-111182200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr13:111179800-111183400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr13:111180000-111180800	Weak transcription	Right Atrium	heart
42	chr13:111180000-111181400	Weak transcription	Fetal Lung	lung
43	chr13:111180000-111181600	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr13:111180000-111182000	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr13:111180000-111183400	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr13:111180000-111183400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr13:111180000-111187600	Weak transcription	Fetal Stomach	stomach
48	chr13:111180000-111188000	Weak transcription	Right Ventricle	heart
49	chr13:111180000-111188200	Weak transcription	Brain Anterior Caudate	brain
50	chr13:111180200-111180600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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