Variant report

Variant	rs59507163
Chromosome Location	chr6:33417777-33417778
allele	G/T
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	POLR2A	chr6:33417607-33418471	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr6:33417598-33418944	K562	blood:	n/a	n/a
3	POLR2A	chr6:33416873-33418136	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:33392146..33394863-chr6:33415963..33418099,3	MCF-7	breast:
2	chr6:33402335..33405767-chr6:33416394..33418965,3	MCF-7	breast:
3	chr6:33358627..33361285-chr6:33416169..33418601,2	MCF-7	breast:
4	chr6:33416427..33418165-chr6:33432976..33435399,2	K562	blood:

Variant related genes	Relation type
ZBTB9	TF binding region
ENSG00000237649	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs56957947	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57206692	0.83[AFR][1000 genomes]
rs57991968	0.83[AFR][1000 genomes]
rs58287097	0.81[AFR][1000 genomes]
rs60023810	1.00[AMR][1000 genomes]
rs6901048	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73402303	0.83[AFR][1000 genomes]
rs73402305	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73402312	0.86[AFR][1000 genomes]
rs73402320	0.86[AFR][1000 genomes]
rs73412030	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73416054	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9469425	0.86[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	nsv830637	chr6:33329365-33510704	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv602832	chr6:33382241-33520221	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv437503	chr6:33408542-33421577	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33399400-33421200	Weak transcription	HMEC	breast
2	chr6:33399400-33421600	Weak transcription	Stomach Mucosa	stomach
3	chr6:33399600-33421400	Weak transcription	HUVEC	blood vessel
4	chr6:33399800-33421400	Weak transcription	A549	lung
5	chr6:33400000-33418000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr6:33400000-33420600	Strong transcription	Brain Germinal Matrix	brain
7	chr6:33401200-33420800	Strong transcription	Fetal Brain Female	brain
8	chr6:33401400-33418800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr6:33401400-33421400	Weak transcription	Right Atrium	heart
10	chr6:33402000-33418000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr6:33402000-33418000	Strong transcription	NHLF	lung
12	chr6:33402000-33418200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr6:33402000-33420600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:33402200-33418200	Strong transcription	Fetal Muscle Leg	muscle
15	chr6:33402200-33418600	Strong transcription	Dnd41	blood
16	chr6:33402200-33420000	Strong transcription	Fetal Thymus	thymus
17	chr6:33402200-33420800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr6:33402400-33420800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:33402600-33420000	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr6:33402600-33420400	Strong transcription	Fetal Stomach	stomach
21	chr6:33402600-33421400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr6:33402800-33417800	Strong transcription	Primary T cells from cord blood	blood
23	chr6:33402800-33417800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr6:33402800-33418400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr6:33402800-33418600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr6:33402800-33418600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
27	chr6:33402800-33419000	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr6:33402800-33420000	Strong transcription	H9 Cell Line	embryonic stem cell
29	chr6:33402800-33420000	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr6:33402800-33420000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr6:33402800-33420200	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr6:33402800-33420200	Strong transcription	Fetal Muscle Trunk	muscle
33	chr6:33403000-33418000	Strong transcription	Fetal Intestine Large	intestine
34	chr6:33403000-33418000	Strong transcription	Ovary	ovary
35	chr6:33403000-33418200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr6:33403000-33420600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr6:33403200-33418000	Strong transcription	Stomach Smooth Muscle	stomach
38	chr6:33403200-33420200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr6:33403600-33420400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr6:33404000-33421200	Weak transcription	HSMM	muscle
41	chr6:33405400-33420400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr6:33406200-33421200	Weak transcription	Liver	Liver
43	chr6:33406400-33420800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr6:33406400-33421200	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr6:33406400-33421400	Weak transcription	Colonic Mucosa	Colon
46	chr6:33406600-33421400	Weak transcription	HSMMtube	muscle
47	chr6:33406800-33421000	Weak transcription	NH-A	brain
48	chr6:33407200-33420400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr6:33408000-33418000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr6:33408400-33417800	Strong transcription	Brain Inferior Temporal Lobe	brain

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