Variant report

Variant	rs73735371
Chromosome Location	chr6:45292495-45292496
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr6:45292489-45292778	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:45285385..45288934-chr6:45291924..45295475,3	K562	blood:
2	chr6:45290102..45292496-chr6:45343857..45345735,2	K562	blood:

Variant related genes	Relation type
RUNX2	TF binding region
SUPT3H	TF binding region
ENSG00000196284	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs55944527	1.00[AFR][1000 genomes]
rs56007105	1.00[AFR][1000 genomes]
rs56166696	1.00[AFR][1000 genomes]
rs56246318	0.83[AFR][1000 genomes]
rs56389859	1.00[AFR][1000 genomes]
rs60637239	1.00[AFR][1000 genomes]
rs60756874	1.00[AFR][1000 genomes]
rs61218822	0.83[AFR][1000 genomes]
rs73735305	1.00[AFR][1000 genomes]
rs73735306	1.00[AFR][1000 genomes]
rs73735311	1.00[AFR][1000 genomes]
rs73735312	1.00[AFR][1000 genomes]
rs73735326	1.00[AFR][1000 genomes]
rs73735331	1.00[AFR][1000 genomes]
rs73735333	1.00[AFR][1000 genomes]
rs73735334	1.00[AFR][1000 genomes]
rs73735350	1.00[AFR][1000 genomes]
rs73735355	1.00[AFR][1000 genomes]
rs73735372	1.00[AFR][1000 genomes]
rs73735377	1.00[AFR][1000 genomes]
rs73735379	1.00[AFR][1000 genomes]
rs73735387	0.83[AFR][1000 genomes]
rs73735393	0.83[AFR][1000 genomes]
rs73735396	0.83[AFR][1000 genomes]
rs73735402	0.83[AFR][1000 genomes]
rs73737404	1.00[AFR][1000 genomes]
rs73737406	1.00[AFR][1000 genomes]
rs73738610	1.00[AFR][1000 genomes]
rs73738614	1.00[AFR][1000 genomes]
rs73738615	1.00[AFR][1000 genomes]
rs73738620	1.00[AFR][1000 genomes]
rs73738622	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv830652	chr6:45187467-45328983	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45285600-45295800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:45289800-45294600	Weak transcription	Brain Anterior Caudate	brain
3	chr6:45290200-45292600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr6:45290400-45292600	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr6:45290400-45292600	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr6:45290800-45292600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr6:45290800-45293800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:45290800-45295800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:45291000-45292600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr6:45291400-45292800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr6:45291600-45293000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr6:45291600-45294400	Weak transcription	Fetal Heart	heart
13	chr6:45291800-45293000	Enhancers	Dnd41	blood
14	chr6:45291800-45293200	Enhancers	Primary hematopoietic stem cells	blood
15	chr6:45291800-45294800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:45291800-45295600	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr6:45291800-45295600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr6:45292000-45292800	Enhancers	Primary T cells from cord blood	blood
19	chr6:45292000-45292800	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr6:45292000-45295600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr6:45292000-45295800	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr6:45292200-45292600	Flanking Active TSS	Osteobl	bone
23	chr6:45292400-45292600	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr6:45292400-45292600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr6:45292400-45292800	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr6:45292400-45294400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr6:45292400-45294400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr6:45292400-45295400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr6:45292400-45295600	Weak transcription	Primary T helper cells PMA-I stimulated	--

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