Variant report

Variant	rs55930938
Chromosome Location	chr6:45459414-45459415
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs73737435	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73737439	0.94[EUR][1000 genomes]
rs73737440	0.91[EUR][1000 genomes]
rs73737441	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73737443	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73737445	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73737446	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73737447	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9472491	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45407200-45462000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr6:45445000-45466000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr6:45448400-45472000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:45448800-45468400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr6:45449000-45462800	Weak transcription	Primary B cells from cord blood	blood
6	chr6:45449000-45472600	Weak transcription	NHEK	skin
7	chr6:45449200-45461800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr6:45451400-45461800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr6:45452000-45472600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr6:45452600-45459600	Weak transcription	HSMMtube	muscle
11	chr6:45452800-45459600	Weak transcription	NHDF-Ad	bronchial
12	chr6:45452800-45460000	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr6:45454000-45459800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr6:45454000-45471800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:45454600-45459600	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr6:45455000-45459600	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr6:45455600-45467200	Strong transcription	HSMM	muscle
18	chr6:45455800-45459800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr6:45457200-45459600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr6:45457400-45460200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr6:45457400-45460600	Strong transcription	Primary hematopoietic stem cells	blood
22	chr6:45457600-45459600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr6:45457600-45459600	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr6:45457600-45460400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr6:45457600-45461200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr6:45457800-45460000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr6:45457800-45460400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr6:45457800-45461800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr6:45457800-45461800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr6:45457800-45466800	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr6:45458000-45461600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr6:45458000-45461800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr6:45458000-45461800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr6:45458000-45469800	Weak transcription	Hela-S3	cervix
35	chr6:45458200-45459600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr6:45458200-45461800	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr6:45458200-45461800	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr6:45458400-45459600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr6:45458400-45459600	Weak transcription	Dnd41	blood
40	chr6:45458600-45459600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr6:45459000-45461800	Weak transcription	NHLF	lung
42	chr6:45459200-45459800	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr6:45459200-45461000	Strong transcription	NH-A	brain
44	chr6:45459400-45459600	Genic enhancers	Osteobl	bone
45	chr6:45459400-45459800	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr6:45459400-45459800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr6:45459400-45460400	Weak transcription	Primary T cells from cord blood	blood
48	chr6:45459400-45472600	Weak transcription	Fetal Intestine Small	intestine

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