Variant report

Variant	rs56112110
Chromosome Location	chr5:68648913-68648914
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:68527870..68529921-chr5:68647388..68650083,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs17236219	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17236380	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17236422	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17236450	1.00[AMR][1000 genomes]
rs17236618	1.00[EUR][1000 genomes]
rs17236639	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4252222	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4252226	1.00[EUR][1000 genomes]
rs4252229	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55754329	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55764482	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56362385	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57344277	1.00[EUR][1000 genomes]
rs57402724	1.00[EUR][1000 genomes]
rs57714822	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58172827	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58381452	1.00[EUR][1000 genomes]
rs58742544	1.00[EUR][1000 genomes]
rs59233462	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59776629	1.00[EUR][1000 genomes]
rs59799008	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60644166	1.00[AMR][1000 genomes]
rs61244656	1.00[EUR][1000 genomes]
rs61290150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6861518	1.00[EUR][1000 genomes]
rs6876889	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6893921	1.00[EUR][1000 genomes]
rs73772384	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73772537	1.00[AMR][1000 genomes]
rs73772541	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73772542	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73772544	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73772545	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73772550	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7725200	1.00[EUR][1000 genomes]
rs8192269	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018151	chr5:68377118-68667581	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv1035004	chr5:68405526-68670101	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv3515528	chr5:68624487-68653938	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv3515529	chr5:68624487-68653938	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv881767	chr5:68625786-68733698	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv968187	chr5:68646127-68650097	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68628800-68649200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:68638000-68660200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr5:68639200-68663400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:68642200-68650400	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr5:68643000-68664400	Weak transcription	Colonic Mucosa	Colon
6	chr5:68643200-68663200	Weak transcription	Small Intestine	intestine
7	chr5:68643600-68655600	Weak transcription	Fetal Heart	heart
8	chr5:68643800-68660400	Weak transcription	NHEK	skin
9	chr5:68643800-68660800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr5:68643800-68663600	Weak transcription	Brain Angular Gyrus	brain
11	chr5:68644000-68649600	Weak transcription	Hela-S3	cervix
12	chr5:68644000-68660600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr5:68644200-68649600	Weak transcription	Spleen	Spleen
14	chr5:68644200-68652400	Weak transcription	Esophagus	oesophagus
15	chr5:68644200-68660200	Weak transcription	HSMMtube	muscle
16	chr5:68644400-68649000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr5:68644400-68650600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr5:68644800-68658200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr5:68644800-68660800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr5:68645200-68660600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr5:68645600-68652200	Strong transcription	Adipose Nuclei	Adipose
22	chr5:68645600-68658400	Weak transcription	Gastric	stomach
23	chr5:68645800-68649200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr5:68645800-68650800	Strong transcription	Primary hematopoietic stem cells	blood
25	chr5:68645800-68651200	Strong transcription	Placenta	Placenta
26	chr5:68645800-68651400	Strong transcription	Fetal Intestine Large	intestine
27	chr5:68645800-68651600	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr5:68645800-68651600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr5:68645800-68652000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr5:68645800-68652200	Strong transcription	Osteobl	bone
31	chr5:68645800-68652800	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr5:68645800-68653000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr5:68645800-68653000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr5:68645800-68653000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr5:68645800-68653000	Strong transcription	Liver	Liver
36	chr5:68645800-68653200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr5:68645800-68653200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr5:68645800-68653200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr5:68645800-68653200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr5:68645800-68653200	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr5:68645800-68653200	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr5:68645800-68653600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr5:68645800-68653600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr5:68645800-68656000	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr5:68645800-68660800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr5:68645800-68663400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr5:68646000-68651400	Strong transcription	Fetal Thymus	thymus
48	chr5:68646000-68651400	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr5:68646000-68651600	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr5:68646000-68651800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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