Variant report

Variant	rs13217503
Chromosome Location	chr6:45398531-45398532
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:45344371..45347422-chr6:45396890..45400030,4	K562	blood:
2	chr6:45395577..45398592-chr6:45399582..45403433,4	K562	blood:

Variant related genes	Relation type
ENSG00000196284	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs34783931	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71566532	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73737411	0.82[AFR][1000 genomes]
rs73737414	0.82[AFR][1000 genomes]
rs73737415	0.82[AFR][1000 genomes]
rs7760251	0.82[AFR][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	chr6:45392200-45400600	Weak transcription	HMEC	breast
2	chr6:45392200-45404800	Weak transcription	Brain Substantia Nigra	brain
3	chr6:45392400-45398600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr6:45392400-45400000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:45392400-45400600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr6:45392400-45406800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:45392600-45400600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr6:45392800-45399000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr6:45392800-45399200	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr6:45393000-45400600	Weak transcription	NHLF	lung
11	chr6:45394400-45398800	Enhancers	Osteobl	bone
12	chr6:45394400-45401600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr6:45394400-45413200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:45395200-45399200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr6:45395600-45398600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr6:45396000-45400400	Weak transcription	NHDF-Ad	bronchial
17	chr6:45396400-45398800	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr6:45396400-45400000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr6:45396400-45400400	Strong transcription	Muscle Satellite Cultured Cells	--
20	chr6:45396400-45401400	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr6:45396600-45399800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr6:45396800-45399200	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr6:45396800-45404200	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr6:45397000-45399200	Weak transcription	Primary T cells from cord blood	blood
25	chr6:45397000-45399200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr6:45397000-45399600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr6:45397200-45399400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr6:45397200-45400200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr6:45397400-45398600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr6:45397400-45405400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr6:45397800-45399000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr6:45397800-45402400	Genic enhancers	HSMM	muscle
33	chr6:45397800-45402800	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr6:45398000-45399400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr6:45398000-45399800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr6:45398000-45401600	Genic enhancers	Dnd41	blood
37	chr6:45398200-45399400	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr6:45398200-45399400	Enhancers	K562	blood
39	chr6:45398200-45400400	Strong transcription	NH-A	brain
40	chr6:45398200-45401000	Weak transcription	Duodenum Mucosa	Duodenum
41	chr6:45398400-45398600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr6:45398400-45398600	Enhancers	Fetal Thymus	thymus
43	chr6:45398400-45398600	Enhancers	HSMMtube	muscle
44	chr6:45398400-45398800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr6:45398400-45399000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr6:45398400-45399400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr6:45398400-45402600	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr6:45398400-45404200	Enhancers	Primary hematopoietic stem cells	blood

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