Variant report

Variant	rs73772960
Chromosome Location	chr6:133133537-133133538
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	MYBL2	chr6:133133171-133133731	HepG2	liver:	n/a	n/a
2	POLR2A	chr6:133133509-133142958	HepG2	liver:	n/a	n/a
3	IRF1	chr6:133133534-133134875	K562	blood:	n/a	chr6:133134277-133134291 chr6:133134280-133134294 chr6:133134281-133134294 chr6:133134277-133134287 chr6:133134278-133134289 chr6:133134276-133134288 chr6:133134276-133134293 chr6:133134283-133134294 chr6:133134281-133134294 chr6:133134283-133134293 chr6:133134284-133134295 chr6:133134275-133134288 chr6:133134283-133134297 chr6:133134279-133134293 chr6:133134275-133134289 chr6:133134277-133134288 chr6:133134276-133134289 chr6:133134276-133134290 chr6:133134277-133134298 chr6:133134281-133134294 chr6:133134275-133134295 chr6:133134281-133134294 chr6:133134281-133134295 chr6:133134605-133134614
4	MYC	chr6:133133521-133138056	K562	blood:	n/a	chr6:133134081-133134091 chr6:133135767-133135777
5	RCOR1	chr6:133133467-133134756	K562	blood:	n/a	n/a
6	POLR2A	chr6:133133442-133144695	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr6:133133522-133142994	GM12891	blood:	n/a	n/a
8	MXI1	chr6:133133461-133135102	IMR90	lung:	n/a	n/a
9	BACH1	chr6:133133404-133133766	K562	blood:	n/a	n/a
10	IRF1	chr6:133133384-133137081	K562	blood:	n/a	chr6:133134277-133134291 chr6:133134280-133134294 chr6:133135591-133135605 chr6:133135587-133135601 chr6:133134911-133134922 chr6:133134281-133134294 chr6:133134277-133134287 chr6:133134278-133134289 chr6:133134276-133134288 chr6:133134276-133134293 chr6:133135464-133135478 chr6:133134283-133134294 chr6:133134281-133134294 chr6:133134283-133134293 chr6:133135589-133135602 chr6:133135583-133135603 chr6:133134284-133134295 chr6:133134275-133134288 chr6:133134283-133134297 chr6:133134279-133134293 chr6:133134275-133134289 chr6:133135591-133135601 chr6:133134277-133134288 chr6:133134276-133134289 chr6:133135589-133135602 chr6:133134276-133134290 chr6:133135589-133135603 chr6:133134277-133134298 chr6:133134281-133134294 chr6:133134275-133134295 chr6:133134281-133134294 chr6:133135588-133135602 chr6:133134281-133134295 chr6:133134605-133134614
11	RFX5	chr6:133133304-133133676	K562	blood:	n/a	n/a
12	MYC	chr6:133133438-133136503	K562	blood:	n/a	chr6:133134081-133134091 chr6:133135767-133135777
13	MYBL2	chr6:133133330-133136491	HepG2	liver:	n/a	n/a
14	POLR2A	chr6:133133515-133136606	NB4	blood:	n/a	n/a
15	POLR2A	chr6:133133488-133142945	PBDE	blood:	n/a	n/a
16	GATA2	chr6:133133394-133133772	K562	blood:	n/a	chr6:133133593-133133602
17	POLR2A	chr6:133133410-133142612	HepG2	liver:	n/a	n/a
18	MYC	chr6:133133494-133134920	MCF10A-Er-Src	breast:	n/a	chr6:133134081-133134091
19	TEAD4	chr6:133133344-133133876	K562	blood:	n/a	n/a
20	POLR2A	chr6:133133528-133143521	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr6:133133461-133143479	K562	blood:	n/a	n/a
22	EP300	chr6:133133462-133133779	K562	blood:	n/a	n/a
23	RFX5	chr6:133133151-133134199	IMR90	lung:	n/a	n/a
24	MYC	chr6:133133481-133133831	MCF10A-Er-Src	breast:	n/a	n/a
25	RCOR1	chr6:133133429-133135902	K562	blood:	n/a	n/a
26	ZNF384	chr6:133133272-133134808	K562	blood:	n/a	n/a
27	IRF1	chr6:133133296-133135937	K562	blood:	n/a	chr6:133134277-133134291 chr6:133134280-133134294 chr6:133135591-133135605 chr6:133135587-133135601 chr6:133134911-133134922 chr6:133134281-133134294 chr6:133134277-133134287 chr6:133134278-133134289 chr6:133134276-133134288 chr6:133134276-133134293 chr6:133135464-133135478 chr6:133134283-133134294 chr6:133134281-133134294 chr6:133134283-133134293 chr6:133135589-133135602 chr6:133135583-133135603 chr6:133134284-133134295 chr6:133134275-133134288 chr6:133134283-133134297 chr6:133134279-133134293 chr6:133134275-133134289 chr6:133135591-133135601 chr6:133134277-133134288 chr6:133134276-133134289 chr6:133135589-133135602 chr6:133134276-133134290 chr6:133135589-133135603 chr6:133134277-133134298 chr6:133134281-133134294 chr6:133134275-133134295 chr6:133134281-133134294 chr6:133135588-133135602 chr6:133134281-133134295 chr6:133134605-133134614
28	GATA1	chr6:133133340-133136704	PBDE	blood:	n/a	chr6:133133593-133133602
29	POLR2A	chr6:133133486-133133885	K562	blood:	n/a	n/a
30	MAX	chr6:133133497-133133750	K562	blood:	n/a	n/a
31	MBD4	chr6:133133333-133134981	HepG2	liver:	n/a	n/a
32	POLR2A	chr6:133133462-133133788	K562	blood:	n/a	n/a
33	TAF1	chr6:133133499-133134167	H1-hESC	embryonic stem cell:	n/a	n/a
34	BHLHE40	chr6:133133525-133135904	K562	blood:	n/a	chr6:133134469-133134478 chr6:133134469-133134478
35	TBL1XR1	chr6:133133470-133134903	K562	blood:	n/a	n/a
36	STAT3	chr6:133133422-133133552	MCF10A-Er-Src	breast:	n/a	n/a
37	HEY1	chr6:133133377-133136946	HepG2	liver:	n/a	chr6:133134469-133134478
38	ZNF384	chr6:133133489-133133580	GM12878	blood:	n/a	n/a
39	TAL1	chr6:133133452-133133799	K562	blood:	n/a	n/a
40	JUND	chr6:133133420-133136477	K562	blood:	n/a	chr6:133134240-133134247 chr6:133135258-133135270 chr6:133135264-133135274 chr6:133134426-133134434 chr6:133135264-133135274
41	POLR2A	chr6:133133530-133142610	HepG2	liver:	n/a	n/a
42	STAT3	chr6:133133519-133133694	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr6:133133447-133133823	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:133132887..133135811-chr6:134273188..134277510,5	K562	blood:
2	chr6:133118544..133124606-chr6:133132137..133138834,13	MCF-7	breast:

Variant related genes	Relation type
SNORD101	TF binding region
SNORA33	TF binding region
RPS12	TF binding region
SNORD100	TF binding region
ENSG00000028839	Chromatin interaction
ENSG00000146409	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1073512	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11965044	0.81[AFR][1000 genomes]
rs12211425	0.80[AFR][1000 genomes]
rs17061741	0.81[AFR][1000 genomes]
rs56042401	0.81[AFR][1000 genomes]
rs7760377	0.81[AFR][1000 genomes]
rs7770641	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532069	chr6:132776411-133462292	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1015742	chr6:132933666-133285852	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
3	nsv886676	chr6:133111706-133168582	Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
4	esv1806734	chr6:133125643-133168582	Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133120800-133134000	Weak transcription	Pancreas	Pancrea
2	chr6:133121200-133133600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr6:133130000-133133600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr6:133131600-133133600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:133132200-133133600	Enhancers	Adipose Nuclei	Adipose
6	chr6:133132600-133133600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:133132600-133133600	Enhancers	HepG2	liver
8	chr6:133132800-133133600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:133132800-133133600	Weak transcription	Fetal Lung	lung
10	chr6:133132800-133133600	Weak transcription	Small Intestine	intestine
11	chr6:133133000-133133600	Enhancers	Primary T cells fromperipheralblood	blood
12	chr6:133133000-133133600	Enhancers	Duodenum Mucosa	Duodenum
13	chr6:133133000-133133600	Enhancers	K562	blood
14	chr6:133133000-133133600	Enhancers	NHLF	lung
15	chr6:133133200-133133600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr6:133133200-133133600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr6:133133200-133133600	Enhancers	Fetal Thymus	thymus
18	chr6:133133200-133133800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr6:133133400-133133600	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr6:133133400-133133600	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr6:133133400-133133600	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr6:133133400-133133600	Enhancers	Primary B cells from cord blood	blood
23	chr6:133133400-133133600	Enhancers	Primary T cells from cord blood	blood
24	chr6:133133400-133133600	Enhancers	Primary hematopoietic stem cells	blood
25	chr6:133133400-133133600	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr6:133133400-133133600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr6:133133400-133133600	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr6:133133400-133133600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr6:133133400-133133600	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr6:133133400-133133600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr6:133133400-133133600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr6:133133400-133133600	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr6:133133400-133133600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr6:133133400-133133600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
35	chr6:133133400-133133600	Enhancers	Liver	Liver
36	chr6:133133400-133133600	Enhancers	Brain Hippocampus Middle	brain
37	chr6:133133400-133133600	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr6:133133400-133133600	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr6:133133400-133133600	Enhancers	Fetal Kidney	kidney
40	chr6:133133400-133133600	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr6:133133400-133133600	Enhancers	Rectal Smooth Muscle	rectum
42	chr6:133133400-133133600	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr6:133133400-133133600	Enhancers	Stomach Smooth Muscle	stomach
44	chr6:133133400-133133600	Enhancers	Dnd41	blood
45	chr6:133133400-133133600	Enhancers	GM12878-XiMat	blood
46	chr6:133133400-133133600	Enhancers	HSMMtube	muscle
47	chr6:133133400-133133800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr6:133133400-133133800	Weak transcription	Fetal Muscle Trunk	muscle
49	chr6:133133400-133133800	Weak transcription	Stomach Mucosa	stomach
50	chr6:133133400-133134000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell

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