Variant report

Variant	rs56359442
Chromosome Location	chr13:92014568-92014569
allele	C/T
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:92010635..92015807-chr13:92018550..92023163,4	MCF-7	breast:
2	chr13:92012792..92014958-chr13:92182258..92184358,2	K562	blood:
3	chr13:92013441..92015656-chr13:92220100..92222208,2	K562	blood:
4	chr13:92013384..92016331-chr13:92208566..92210959,3	K562	blood:
5	chr13:92013396..92015675-chr13:92176730..92178777,2	K562	blood:
6	chr13:92013319..92015421-chr9:134129597..134132171,2	K562	blood:
7	chr13:92013520..92015096-chr22:22874371..22876015,2	K562	blood:
8	chr13:92014568..92016594-chr13:92120306..92123284,2	K562	blood:
9	chr13:91999461..92007353-chr13:92008154..92015149,15	MCF-7	breast:
10	chr13:92011474..92015304-chr13:92379938..92384751,4	K562	blood:
11	chr13:92013065..92015045-chr13:92455620..92457213,2	K562	blood:
12	chr13:92009784..92014607-chr13:92111183..92117003,5	K562	blood:
13	chr13:91919441..91922315-chr13:92012969..92015337,3	K562	blood:
14	chr13:91797508..91800057-chr13:92012976..92014999,2	K562	blood:
15	chr13:92013762..92017162-chr13:92191310..92194678,3	K562	blood:
16	chr13:91920179..91922847-chr13:92012969..92015159,3	K562	blood:
17	chr13:92012879..92016310-chr13:92160976..92164923,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000169548	Chromatin interaction
ENSG00000215417	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs61970323	1.00[AFR][1000 genomes]
rs61970324	1.00[AFR][1000 genomes]
rs61970330	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61970351	1.00[AFR][1000 genomes]
rs61970354	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042947	chr13:91571040-92416897	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1946 gene(s)	inside rSNPs	diseases
2	nsv541871	chr13:91571040-92416897	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1946 gene(s)	inside rSNPs	diseases
3	esv1803618	chr13:91669587-92277699	Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1945 gene(s)	inside rSNPs	diseases
4	nsv1050259	chr13:91759549-92152078	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1944 gene(s)	inside rSNPs	diseases
5	nsv541872	chr13:91759549-92152078	Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1944 gene(s)	inside rSNPs	diseases
6	nsv832679	chr13:91859467-92030220	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1943 gene(s)	inside rSNPs	diseases
7	esv1802171	chr13:91999737-92015977	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1940 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:92001800-92015600	Weak transcription	Ovary	ovary
2	chr13:92001800-92027200	Weak transcription	Aorta	Aorta
3	chr13:92003600-92016600	Weak transcription	Gastric	stomach
4	chr13:92003600-92021200	Weak transcription	Right Ventricle	heart
5	chr13:92003600-92033200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr13:92004600-92021200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr13:92007800-92015200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr13:92008400-92014600	Weak transcription	Hela-S3	cervix
9	chr13:92008800-92021000	Weak transcription	Osteobl	bone
10	chr13:92008800-92021400	Weak transcription	NHLF	lung
11	chr13:92009200-92016200	Enhancers	Liver	Liver
12	chr13:92009400-92020000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr13:92009400-92020800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr13:92009600-92021200	Weak transcription	HSMMtube	muscle
15	chr13:92009600-92022200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr13:92009800-92014800	Weak transcription	Left Ventricle	heart
17	chr13:92009800-92021200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr13:92009800-92021200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr13:92010000-92014800	Enhancers	HepG2	liver
20	chr13:92010000-92021000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr13:92010000-92021000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr13:92010200-92021200	Weak transcription	NH-A	brain
23	chr13:92010200-92021600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr13:92010400-92021400	Weak transcription	HMEC	breast
25	chr13:92010600-92021200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr13:92010800-92015200	Weak transcription	Fetal Intestine Small	intestine
27	chr13:92010800-92020800	Weak transcription	HSMM	muscle
28	chr13:92010800-92021000	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr13:92010800-92021000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr13:92010800-92021200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr13:92010800-92021200	Weak transcription	HUVEC	blood vessel
32	chr13:92010800-92026800	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr13:92011000-92017200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr13:92011000-92021000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr13:92011000-92021000	Weak transcription	Psoas Muscle	Psoas
36	chr13:92011000-92021200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr13:92011400-92020600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr13:92011800-92016400	Weak transcription	Primary hematopoietic stem cells	blood
39	chr13:92011800-92020600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr13:92011800-92020600	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr13:92012200-92014800	Weak transcription	Fetal Thymus	thymus
42	chr13:92012400-92014600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr13:92013200-92021400	Weak transcription	K562	blood
44	chr13:92013400-92020000	Weak transcription	GM12878-XiMat	blood
45	chr13:92013800-92014600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr13:92013800-92014600	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr13:92013800-92015600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr13:92014000-92014600	Enhancers	Fetal Intestine Large	intestine
49	chr13:92014200-92014800	Weak transcription	NHEK	skin
50	chr13:92014200-92015000	Enhancers	A549	lung

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