Variant report

Variant	rs57869715
Chromosome Location	chr13:111177871-111177872
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:111159158..111160698-chr13:111176140..111178279,2	MCF-7	breast:
2	chr13:111160160..111164294-chr13:111174560..111180121,5	MCF-7	breast:
3	chr13:111175845..111178130-chr13:111179058..111181317,2	K562	blood:
4	chr13:111176604..111179029-chr13:111215041..111217071,2	MCF-7	breast:
5	chr13:111175360..111178796-chr13:111180023..111183032,3	MCF-7	breast:
6	chr13:111176916..111182382-chr13:111206819..111214349,14	MCF-7	breast:

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

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs73626780	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73626782	1.00[AMR][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:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111160800-111209600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr13:111165400-111179800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr13:111165800-111179400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr13:111167000-111190800	Weak transcription	Fetal Kidney	kidney
5	chr13:111167200-111179600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr13:111169600-111178600	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr13:111171400-111178200	Enhancers	Fetal Brain Male	brain
8	chr13:111173000-111180000	Enhancers	Right Atrium	heart
9	chr13:111173400-111183200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr13:111173600-111179600	Weak transcription	Fetal Lung	lung
11	chr13:111173800-111180000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr13:111174000-111179800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr13:111174400-111178000	Enhancers	Aorta	Aorta
14	chr13:111175000-111178000	Enhancers	Fetal Brain Female	brain
15	chr13:111175000-111178400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr13:111175200-111182000	Enhancers	Fetal Heart	heart
17	chr13:111175400-111180200	Enhancers	Fetal Muscle Leg	muscle
18	chr13:111176000-111178400	Genic enhancers	Gastric	stomach
19	chr13:111176000-111180400	Enhancers	Left Ventricle	heart
20	chr13:111176000-111182400	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr13:111176000-111185800	Enhancers	Stomach Mucosa	stomach
22	chr13:111176200-111179000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr13:111176200-111179400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr13:111176200-111179600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr13:111176200-111182000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr13:111176400-111178000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr13:111176400-111178600	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr13:111176400-111178600	Enhancers	Primary hematopoietic stem cells	blood
29	chr13:111176400-111178600	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr13:111176400-111179600	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr13:111176400-111182400	Enhancers	Adipose Nuclei	Adipose
32	chr13:111176400-111182400	Enhancers	Pancreas	Pancrea
33	chr13:111176600-111178000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr13:111176600-111178000	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr13:111176600-111178000	Enhancers	HSMMtube	muscle
36	chr13:111176600-111178200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
37	chr13:111176600-111178200	Enhancers	HMEC	breast
38	chr13:111176600-111178600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr13:111176600-111178600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
40	chr13:111176600-111179200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr13:111176600-111180000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr13:111176600-111180400	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr13:111176600-111180600	Enhancers	Lung	lung
44	chr13:111176600-111182000	Enhancers	Fetal Intestine Large	intestine
45	chr13:111176800-111178200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr13:111176800-111178200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr13:111176800-111178200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr13:111176800-111178400	Flanking Active TSS	Colonic Mucosa	Colon
49	chr13:111176800-111178400	Enhancers	HSMM	muscle
50	chr13:111176800-111178600	Enhancers	Primary B cells from peripheral blood	blood

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