Variant report

Variant	rs57813755
Chromosome Location	chr13:111276428-111276429
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:111211377..111214970-chr13:111273880..111276435,4	MCF-7	breast:
2	chr13:111265898..111273230-chr13:111273500..111281065,16	MCF-7	breast:
3	chr13:111266306..111273367-chr13:111274094..111280494,12	K562	blood:
4	chr13:111266604..111270536-chr13:111275017..111281975,10	MCF-7	breast:
5	chr13:111271154..111277326-chr13:111363993..111367812,9	K562	blood:

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

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10467308	1.00[ASN][1000 genomes]
rs11838544	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11838563	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11838902	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11840542	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11841651	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12427561	1.00[ASN][1000 genomes]
rs12428009	1.00[ASN][1000 genomes]
rs55949519	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57658160	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57696811	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59590698	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59764598	1.00[EUR][1000 genomes]
rs60690859	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs718886	1.00[ASN][1000 genomes]
rs73629903	1.00[ASN][1000 genomes]
rs73629967	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	nsv901012	chr13:111220842-111340342	Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
13	nsv1044340	chr13:111234073-111692994	Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	240 gene(s)	inside rSNPs	diseases
14	nsv563123	chr13:111237260-111292044	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
15	nsv525124	chr13:111261267-111280002	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
16	nsv563124	chr13:111261267-111300943	Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
17	nsv1048700	chr13:111265350-111658617	Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	240 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111269000-111277000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr13:111269000-111277600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr13:111269000-111287000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr13:111269400-111286600	Weak transcription	Fetal Brain Male	brain
5	chr13:111269400-111287200	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr13:111269600-111277200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr13:111269600-111279800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr13:111270400-111279800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr13:111270400-111280200	Weak transcription	Fetal Heart	heart
10	chr13:111270400-111282800	Weak transcription	Fetal Kidney	kidney
11	chr13:111270800-111278000	Weak transcription	Small Intestine	intestine
12	chr13:111270800-111279800	Weak transcription	NH-A	brain
13	chr13:111270800-111296800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr13:111271200-111287000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr13:111271400-111277000	Weak transcription	Stomach Mucosa	stomach
16	chr13:111271400-111281400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr13:111271600-111281600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr13:111273400-111277000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr13:111273400-111281200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr13:111274000-111278200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr13:111274200-111278000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr13:111274400-111277800	Strong transcription	Hela-S3	cervix
23	chr13:111274400-111278400	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr13:111274400-111284400	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr13:111274600-111276600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr13:111274600-111277200	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr13:111274600-111277200	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr13:111274600-111277200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr13:111274600-111277200	Strong transcription	Fetal Muscle Trunk	muscle
30	chr13:111274600-111277200	Strong transcription	HepG2	liver
31	chr13:111274600-111277400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr13:111274600-111277400	Strong transcription	Fetal Muscle Leg	muscle
33	chr13:111274600-111277600	Strong transcription	Fetal Intestine Large	intestine
34	chr13:111274600-111277600	Strong transcription	Fetal Stomach	stomach
35	chr13:111274600-111277800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr13:111274600-111277800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr13:111274600-111277800	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr13:111274600-111278000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr13:111274600-111278000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr13:111274600-111278000	Strong transcription	GM12878-XiMat	blood
41	chr13:111274600-111278800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr13:111274600-111278800	Strong transcription	Fetal Thymus	thymus
43	chr13:111274600-111279200	Strong transcription	Right Ventricle	heart
44	chr13:111274600-111279800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr13:111274600-111281200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr13:111274600-111281400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr13:111274600-111281600	Strong transcription	Brain Anterior Caudate	brain
48	chr13:111274600-111281800	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr13:111274600-111282200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr13:111274600-111282200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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