Variant report

Variant	rs73772961
Chromosome Location	chr6:133133906-133133907
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	POLR2A	chr6:133133509-133142958	HepG2	liver:	n/a	n/a
2	TBP	chr6:133133860-133135952	Hela-S3	cervix:	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	MTA3	chr6:133133767-133137277	GM12878	blood:	n/a	n/a
7	CUX1	chr6:133133539-133134771	K562	blood:	n/a	chr6:133134547-133134556
8	RELA	chr6:133133625-133136264	GM10847	blood:	n/a	n/a
9	BHLHE40	chr6:133133833-133136004	GM12878	blood:	n/a	chr6:133134469-133134478 chr6:133134469-133134478
10	POLR2A	chr6:133133442-133144695	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr6:133133522-133142994	GM12891	blood:	n/a	n/a
12	MXI1	chr6:133133461-133135102	IMR90	lung:	n/a	n/a
13	POLR2A	chr6:133133674-133134878	GM12878	blood:	n/a	n/a
14	POLR2A	chr6:133133648-133142538	K562	blood:	n/a	n/a
15	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
16	MYC	chr6:133133438-133136503	K562	blood:	n/a	chr6:133134081-133134091 chr6:133135767-133135777
17	MTA3	chr6:133133889-133134925	GM12878	blood:	n/a	n/a
18	MYBL2	chr6:133133330-133136491	HepG2	liver:	n/a	n/a
19	POLR2A	chr6:133133515-133136606	NB4	blood:	n/a	n/a
20	POLR2A	chr6:133133488-133142945	PBDE	blood:	n/a	n/a
21	TAF1	chr6:133133899-133134094	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr6:133133896-133136612	Raji	blood:	n/a	n/a
23	POLR2A	chr6:133133410-133142612	HepG2	liver:	n/a	n/a
24	POLR2A	chr6:133133546-133143142	SK-N-MC	brain:	n/a	n/a
25	MYC	chr6:133133494-133134920	MCF10A-Er-Src	breast:	n/a	chr6:133134081-133134091
26	JUN	chr6:133133558-133134818	K562	blood:	n/a	chr6:133134240-133134247 chr6:133134426-133134434
27	POLR2A	chr6:133133528-133143521	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr6:133133461-133143479	K562	blood:	n/a	n/a
29	POLR2A	chr6:133133600-133142470	K562	blood:	n/a	n/a
30	CHD1	chr6:133133718-133139140	H1-hESC	embryonic stem cell:	n/a	n/a
31	RFX5	chr6:133133151-133134199	IMR90	lung:	n/a	n/a
32	POLR2A	chr6:133133566-133142521	K562	blood:	n/a	n/a
33	RELA	chr6:133133733-133135933	GM18505	blood:	n/a	n/a
34	RCOR1	chr6:133133429-133135902	K562	blood:	n/a	n/a
35	MYBL2	chr6:133133828-133136539	HepG2	liver:	n/a	n/a
36	HCFC1	chr6:133133892-133136122	Hela-S3	cervix:	n/a	n/a
37	ZNF384	chr6:133133272-133134808	K562	blood:	n/a	n/a
38	POLR2A	chr6:133133565-133142938	GM12878	blood:	n/a	n/a
39	SIN3A	chr6:133133559-133136798	H1-hESC	embryonic stem cell:	n/a	chr6:133135767-133135778
40	MAX	chr6:133133543-133136494	NB4	blood:	n/a	chr6:133134081-133134091 chr6:133135767-133135777
41	NFIC	chr6:133133721-133136083	GM12878	blood:	n/a	n/a
42	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
43	GATA1	chr6:133133340-133136704	PBDE	blood:	n/a	chr6:133133593-133133602
44	POLR2A	chr6:133133548-133136728	K562	blood:	n/a	n/a
45	TBP	chr6:133133544-133136772	K562	blood:	n/a	n/a
46	MBD4	chr6:133133333-133134981	HepG2	liver:	n/a	n/a
47	RUNX3	chr6:133133901-133136002	GM12878	blood:	n/a	n/a
48	TAF1	chr6:133133499-133134167	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr6:133133611-133138036	MCF10A-Er-Src	breast:	n/a	n/a
50	BHLHE40	chr6:133133525-133135904	K562	blood:	n/a	chr6:133134469-133134478 chr6:133134469-133134478

No.	Distal block	Cell Line	Cell type
1	chr6:133133722..133135487-chr6:133500551..133504315,3	K562	blood:
2	chr6:133132887..133135811-chr6:134273188..134277510,5	K562	blood:
3	chr6:133118544..133124606-chr6:133132137..133138834,13	MCF-7	breast:
4	chr6:133117688..133126502-chr6:133133829..133139054,19	MCF-7	breast:

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

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs11961405	1.00[AMR][1000 genomes]
rs11964612	1.00[AMR][1000 genomes]
rs11966336	1.00[AMR][1000 genomes]
rs11966419	1.00[AMR][1000 genomes]
rs55634221	1.00[AMR][1000 genomes]
rs55739774	0.81[AFR][1000 genomes]
rs55757918	1.00[AMR][1000 genomes]
rs55927079	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55937207	1.00[AMR][1000 genomes]
rs56195831	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56253921	1.00[AMR][1000 genomes]
rs56272102	1.00[AMR][1000 genomes]
rs56321429	1.00[AMR][1000 genomes]
rs56335598	1.00[AMR][1000 genomes]
rs56347679	1.00[AMR][1000 genomes]
rs57507997	1.00[AMR][1000 genomes]
rs58066256	1.00[AMR][1000 genomes]
rs58267486	1.00[AMR][1000 genomes]
rs58879755	1.00[AMR][1000 genomes]
rs58969189	1.00[AMR][1000 genomes]
rs59494178	1.00[AMR][1000 genomes]
rs60308475	1.00[AMR][1000 genomes]
rs60864827	1.00[AMR][1000 genomes]
rs61019706	0.81[AFR][1000 genomes]
rs61588260	1.00[AMR][1000 genomes]
rs73772948	0.81[AFR][1000 genomes]
rs73772954	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73772965	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73772966	1.00[AMR][1000 genomes]
rs73772969	1.00[AMR][1000 genomes]
rs73772971	1.00[AMR][1000 genomes]
rs73772972	1.00[AMR][1000 genomes]
rs73772973	1.00[AMR][1000 genomes]
rs73772974	1.00[AMR][1000 genomes]
rs73772975	1.00[AMR][1000 genomes]
rs73772978	1.00[AMR][1000 genomes]
rs73772979	1.00[AMR][1000 genomes]
rs73772980	1.00[AMR][1000 genomes]
rs73772981	1.00[AMR][1000 genomes]
rs73772982	1.00[AMR][1000 genomes]
rs73772984	1.00[AMR][1000 genomes]
rs73772985	1.00[AMR][1000 genomes]
rs73772986	1.00[AMR][1000 genomes]
rs73772987	1.00[AMR][1000 genomes]
rs73772988	1.00[AMR][1000 genomes]
rs73772990	1.00[AMR][1000 genomes]
rs73772995	1.00[AMR][1000 genomes]
rs73772997	1.00[AMR][1000 genomes]
rs73772998	1.00[AMR][1000 genomes]
rs73773001	1.00[AMR][1000 genomes]
rs73777004	1.00[AMR][1000 genomes]
rs7743148	1.00[AMR][1000 genomes]
rs7754361	1.00[AMR][1000 genomes]
rs7754746	1.00[AMR][1000 genomes]
rs7755395	1.00[AMR][1000 genomes]
rs7763296	1.00[AMR][1000 genomes]
rs7768374	1.00[AMR][1000 genomes]
rs7768800	1.00[AMR][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:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133120800-133134000	Weak transcription	Pancreas	Pancrea
2	chr6:133133400-133134000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr6:133133400-133134000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr6:133133400-133134000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr6:133133400-133134200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr6:133133400-133134200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr6:133133400-133134200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
8	chr6:133133400-133134200	Flanking Active TSS	NHEK	skin
9	chr6:133133400-133134800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr6:133133400-133135800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:133133400-133136000	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr6:133133400-133136000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr6:133133400-133136200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:133133400-133136200	Active TSS	NHDF-Ad	bronchial
15	chr6:133133400-133136400	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr6:133133600-133134000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr6:133133600-133134000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:133133600-133134000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr6:133133600-133134000	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr6:133133600-133134000	Enhancers	Primary B cells from peripheral blood	blood
21	chr6:133133600-133134000	Flanking Active TSS	Primary T cells from cord blood	blood
22	chr6:133133600-133134000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
23	chr6:133133600-133134000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr6:133133600-133134000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
25	chr6:133133600-133134000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
26	chr6:133133600-133134000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr6:133133600-133134000	Flanking Active TSS	Liver	Liver
28	chr6:133133600-133134000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
29	chr6:133133600-133134000	Enhancers	Fetal Heart	heart
30	chr6:133133600-133134000	Flanking Active TSS	Fetal Kidney	kidney
31	chr6:133133600-133134000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr6:133133600-133134000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr6:133133600-133134000	Flanking Active TSS	A549	lung
34	chr6:133133600-133134000	Flanking Active TSS	GM12878-XiMat	blood
35	chr6:133133600-133134000	Enhancers	Hela-S3	cervix
36	chr6:133133600-133134000	Flanking Active TSS	HMEC	breast
37	chr6:133133600-133134000	Flanking Active TSS	HUVEC	blood vessel
38	chr6:133133600-133134000	Flanking Active TSS	K562	blood
39	chr6:133133600-133134000	Flanking Active TSS	NHLF	lung
40	chr6:133133600-133134200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr6:133133600-133134200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr6:133133600-133134200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr6:133133600-133134200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr6:133133600-133134200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
45	chr6:133133600-133134200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
46	chr6:133133600-133134200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
47	chr6:133133600-133134200	Flanking Active TSS	Adipose Nuclei	Adipose
48	chr6:133133600-133134200	Flanking Active TSS	Brain Hippocampus Middle	brain
49	chr6:133133600-133134200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr6:133133600-133134200	Active TSS	Skeletal Muscle Female	skeletal muscle

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