Variant report

Variant	rs73735372
Chromosome Location	chr6:45294876-45294877
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:45294813-45295174	Hela-S3	cervix:	n/a	n/a
2	TBP	chr6:45294706-45294934	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr6:45294652-45295034	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr6:45294758-45295135	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr6:45294726-45295384	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr6:45294696-45295161	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr6:45294685-45295293	MCF10A-Er-Src	breast:	n/a	n/a
8	HEY1	chr6:45294747-45295049	K562	blood:	n/a	n/a
9	TAF7	chr6:45294702-45295155	H1-hESC	embryonic stem cell:	n/a	n/a
10	GTF2B	chr6:45294820-45295016	K562	blood:	n/a	n/a
11	POLR2A	chr6:45294532-45295192	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr6:45294796-45295074	GM12891	blood:	n/a	n/a
13	POLR2A	chr6:45294743-45295087	K562	blood:	n/a	n/a
14	EP300	chr6:45294731-45295106	GM12878	blood:	n/a	n/a
15	GTF2F1	chr6:45294779-45294979	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr6:45294737-45295047	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr6:45294705-45295298	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr6:45294757-45295187	SK-N-MC	brain:	n/a	n/a
19	POLR2A	chr6:45294754-45295022	Hela-S3	cervix:	n/a	n/a
20	TBP	chr6:45294669-45295053	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:45285385..45288934-chr6:45291924..45295475,3	K562	blood:
2	chr6:45293709..45297564-chr6:45344489..45347736,3	K562	blood:
3	chr6:45293709..45295327-chr6:45344477..45346734,2	K562	blood:

No data

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]
rs73735371	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:36 , 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	chr6:45290800-45295800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr6:45291800-45295600	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr6:45291800-45295600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr6:45292000-45295600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr6:45292000-45295800	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr6:45292400-45295400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr6:45292400-45295600	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr6:45292600-45295400	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr6:45292600-45295800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr6:45292600-45301600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr6:45292800-45295400	Weak transcription	Primary T cells from cord blood	blood
13	chr6:45292800-45296000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr6:45293200-45295400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr6:45293400-45295400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr6:45293800-45295600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:45294200-45295000	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr6:45294400-45295400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:45294400-45295400	Enhancers	Osteobl	bone
20	chr6:45294400-45295600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr6:45294400-45295600	Enhancers	Dnd41	blood
22	chr6:45294400-45295800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr6:45294400-45296600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr6:45294400-45296600	Enhancers	Fetal Heart	heart
25	chr6:45294600-45295000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr6:45294600-45295400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr6:45294600-45295600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr6:45294600-45295600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr6:45294600-45296600	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr6:45294600-45296600	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr6:45294800-45295400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr6:45294800-45295400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr6:45294800-45295600	Weak transcription	Brain Anterior Caudate	brain
34	chr6:45294800-45295800	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr6:45294800-45295800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr6:45294800-45296000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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