Variant report

Variant	rs391859
Chromosome Location	chr13:111160304-111160305
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:111158315..111162369-chr13:111211913..111215301,3	MCF-7	breast:
2	chr13:111158551..111160525-chr13:111267801..111269585,2	MCF-7	breast:
3	chr13:111158296..111161279-chr13:111366588..111368622,2	K562	blood:
4	chr13:111158284..111162693-chr13:111363847..111368622,9	K562	blood:
5	chr13:111158122..111160358-chr13:111366408..111368725,2	MCF-7	breast:
6	chr13:111159545..111161201-chr13:111212465..111215084,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153487	Chromatin interaction
ENSG00000134905	Chromatin interaction
ENSG00000139832	Chromatin interaction
ENSG00000213995	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10509	0.85[EUR][1000 genomes]
rs12584142	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs331592	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs913400	0.80[TSI][hapmap]
rs9521815	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv901009	chr13:111134780-111176393	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	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
8	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
9	nsv563121	chr13:111155363-111168488	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	n/a
10	nsv984479	chr13:111157297-111176429	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	n/a
11	esv3386817	chr13:111160183-111160563	Strong transcription Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111109800-111168000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr13:111119600-111160400	Weak transcription	Brain Germinal Matrix	brain
3	chr13:111124400-111167400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr13:111131000-111162800	Weak transcription	Fetal Brain Male	brain
5	chr13:111139600-111166400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr13:111139600-111166600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr13:111140200-111167200	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr13:111140800-111166600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr13:111141600-111165600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr13:111143400-111166800	Strong transcription	H9 Cell Line	embryonic stem cell
11	chr13:111149600-111161800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr13:111149800-111162400	Strong transcription	H1 Cell Line	embryonic stem cell
13	chr13:111150000-111165000	Weak transcription	Brain Angular Gyrus	brain
14	chr13:111150800-111167200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr13:111152600-111168000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr13:111152800-111165800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr13:111153000-111168000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr13:111153400-111162000	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr13:111153400-111172800	Weak transcription	Brain Substantia Nigra	brain
20	chr13:111155200-111161200	Weak transcription	Fetal Kidney	kidney
21	chr13:111155200-111175600	Weak transcription	Fetal Thymus	thymus
22	chr13:111155400-111160800	Strong transcription	Fetal Brain Female	brain
23	chr13:111155600-111160600	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr13:111155600-111160800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
25	chr13:111156000-111161400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr13:111156800-111161800	Weak transcription	NHDF-Ad	bronchial
27	chr13:111157000-111160600	Weak transcription	HMEC	breast
28	chr13:111157800-111160400	Genic enhancers	Spleen	Spleen
29	chr13:111157800-111163000	Genic enhancers	Fetal Intestine Small	intestine
30	chr13:111158000-111160800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr13:111158000-111160800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr13:111158000-111160800	Genic enhancers	Right Ventricle	heart
33	chr13:111158000-111161000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr13:111158200-111160800	Enhancers	Right Atrium	heart
35	chr13:111158200-111162000	Genic enhancers	Fetal Intestine Large	intestine
36	chr13:111158400-111160600	Genic enhancers	Colon Smooth Muscle	Colon
37	chr13:111158600-111160600	Genic enhancers	Duodenum Smooth Muscle	Duodenum
38	chr13:111158600-111160800	Genic enhancers	Lung	lung
39	chr13:111158600-111161400	Genic enhancers	Left Ventricle	heart
40	chr13:111158800-111160400	Genic enhancers	Ovary	ovary
41	chr13:111158800-111160800	Genic enhancers	Fetal Muscle Trunk	muscle
42	chr13:111158800-111160800	Genic enhancers	Fetal Muscle Leg	muscle
43	chr13:111158800-111160800	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr13:111158800-111163800	Weak transcription	Small Intestine	intestine
45	chr13:111159000-111160600	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
46	chr13:111159000-111160600	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
47	chr13:111159000-111161000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
48	chr13:111159000-111162200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr13:111159000-111162400	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr13:111159200-111160400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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