Variant report

Variant	rs72901171
Chromosome Location	chr6:79577870-79577871
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	chr6:79576916-79577904	H1-hESC	embryonic stem cell:	n/a	n/a
2	KAP1	chr6:79576821-79578129	HEK293	kidney:	n/a	n/a
3	MXI1	chr6:79576715-79578583	SK-N-SH	brain:	n/a	chr6:79577948-79577957 chr6:79577265-79577280
4	TCF7L2	chr6:79576788-79577883	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr6:79576902-79577885	GM12892	blood:	n/a	n/a
6	STAT3	chr6:79577833-79577936	MCF10A-Er-Src	breast:	n/a	n/a
7	JUND	chr6:79577025-79577951	H1-hESC	embryonic stem cell:	n/a	n/a
8	SIN3A	chr6:79576985-79577967	H1-hESC	embryonic stem cell:	n/a	chr6:79577948-79577957
9	CEBPB	chr6:79576983-79577921	Hela-S3	cervix:	n/a	chr6:79577904-79577917
10	TAF1	chr6:79576721-79577898	H1-hESC	embryonic stem cell:	n/a	n/a
11	SP4	chr6:79577390-79577903	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr6:79577480-79577939	K562	blood:	n/a	n/a
13	CTCF	chr6:79577296-79577899	GM12878	blood:	n/a	n/a
14	CTCF	chr6:79577720-79577870	HFF-Myc	foreskin:	n/a	n/a
15	POLR2A	chr6:79576751-79577879	HL-60	blood:	n/a	n/a
16	MAX	chr6:79576714-79577960	HCT-116	colon:	n/a	chr6:79577948-79577958
17	TBP	chr6:79576903-79577889	H1-hESC	embryonic stem cell:	n/a	n/a
18	E2F6	chr6:79576785-79577878	H1-hESC	embryonic stem cell:	n/a	n/a
19	MYC	chr6:79577043-79578026	H1-hESC	embryonic stem cell:	n/a	chr6:79577948-79577958
20	POLR2A	chr6:79576840-79577891	GM18526	blood:	n/a	n/a
21	CEBPB	chr6:79577090-79577939	HepG2	liver:	n/a	chr6:79577904-79577917
22	POLR2A	chr6:79576841-79577892	GM18951	blood:	n/a	n/a
23	BACH1	chr6:79577206-79577978	H1-hESC	embryonic stem cell:	n/a	n/a
24	CEBPB	chr6:79577027-79577929	H1-hESC	embryonic stem cell:	n/a	chr6:79577904-79577917
25	WRNIP1	chr6:79576825-79578126	GM12878	blood:	n/a	n/a
26	MAX	chr6:79576937-79578131	H1-hESC	embryonic stem cell:	n/a	chr6:79577948-79577958
27	POLR2A	chr6:79576745-79577914	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr6:79576801-79577880	GM12892	blood:	n/a	n/a
29	MTA3	chr6:79576781-79577893	GM12878	blood:	n/a	n/a
30	TBP	chr6:79576848-79577931	GM12878	blood:	n/a	n/a
31	MAX	chr6:79576928-79577881	HepG2	liver:	n/a	n/a
32	POLR2A	chr6:79576898-79577900	Hela-S3	cervix:	n/a	n/a
33	TCF7L2	chr6:79576787-79577870	HCT-116	colon:	n/a	n/a
34	POLR2A	chr6:79576837-79577877	Hela-S3	cervix:	n/a	n/a
35	ELK1	chr6:79577096-79578026	GM12878	blood:	n/a	n/a
36	TCF7L2	chr6:79576838-79577957	PANC-1	pancreas:	n/a	n/a
37	MYC	chr6:79576969-79578001	K562	blood:	n/a	chr6:79577948-79577958
38	MYC	chr6:79577066-79578304	MCF10A-Er-Src	breast:	n/a	chr6:79577948-79577958
39	MXI1	chr6:79577139-79578029	H1-hESC	embryonic stem cell:	n/a	chr6:79577948-79577957 chr6:79577265-79577280
40	POLR2A	chr6:79576743-79577884	K562	blood:	n/a	n/a
41	HCFC1	chr6:79576744-79577979	Hela-S3	cervix:	n/a	n/a
42	TCF12	chr6:79577272-79577879	H1-hESC	embryonic stem cell:	n/a	n/a
43	MYC	chr6:79577058-79578143	MCF10A-Er-Src	breast:	n/a	chr6:79577948-79577958
44	POLR2A	chr6:79576968-79578066	GM15510	blood:	n/a	n/a
45	MAX	chr6:79576940-79578117	H1-hESC	embryonic stem cell:	n/a	chr6:79577948-79577958
46	MAZ	chr6:79576958-79577962	GM12878	blood:	n/a	chr6:79577948-79577958
47	GTF2F1	chr6:79576958-79577912	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr6:79576805-79578064	GM12878	blood:	n/a	n/a
49	MXI1	chr6:79576972-79578015	Hela-S3	cervix:	n/a	chr6:79577948-79577957 chr6:79577265-79577280
50	POLR2A	chr6:79576806-79577906	Raji	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:79575800..79578597-chr6:79786334..79789260,2	MCF-7	breast:
2	chr6:79576198..79578688-chr6:79580398..79583072,2	K562	blood:

Variant related genes	Relation type
IRAK1BP1	TF binding region
ENSG00000146247	Chromatin interaction
ENSG00000146243	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11547228	0.83[AFR][1000 genomes]
rs4640849	0.83[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	nsv1015352	chr6:79521820-79757024	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	esv1839807	chr6:79532610-79606615	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv970379	chr6:79571879-79578296	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:79574600-79578400	Active TSS	K562	blood
2	chr6:79576000-79578600	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr6:79576200-79578000	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr6:79576200-79578000	Active TSS	Skeletal Muscle Female	skeletal muscle
5	chr6:79576200-79578200	Active TSS	Brain Hippocampus Middle	brain
6	chr6:79576200-79578200	Active TSS	Rectal Mucosa Donor 31	rectum
7	chr6:79576200-79578200	Active TSS	A549	lung
8	chr6:79576200-79578400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr6:79576200-79578400	Active TSS	Hela-S3	cervix
10	chr6:79576200-79578600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr6:79576200-79578600	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr6:79576200-79578600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:79576200-79578600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:79576400-79578000	Active TSS	Fetal Brain Female	brain
15	chr6:79576400-79578000	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr6:79576400-79578200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr6:79576400-79578200	Active TSS	Muscle Satellite Cultured Cells	--
18	chr6:79576400-79578200	Active TSS	Brain Angular Gyrus	brain
19	chr6:79576400-79578200	Active TSS	Psoas Muscle	Psoas
20	chr6:79576400-79578200	Active TSS	HMEC	breast
21	chr6:79576400-79578200	Active TSS	NHEK	skin
22	chr6:79576400-79578400	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr6:79576400-79578400	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr6:79576400-79578400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:79576400-79578400	Active TSS	Duodenum Mucosa	Duodenum
26	chr6:79576400-79578400	Active TSS	Fetal Kidney	kidney
27	chr6:79576400-79578400	Active TSS	Fetal Lung	lung
28	chr6:79576400-79578400	Active TSS	Rectal Smooth Muscle	rectum
29	chr6:79576400-79578400	Active TSS	Right Atrium	heart
30	chr6:79576400-79578400	Active TSS	NHDF-Ad	bronchial
31	chr6:79576400-79578600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr6:79576400-79578600	Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr6:79576400-79578600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr6:79576400-79578600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr6:79576400-79578600	Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr6:79576400-79578600	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr6:79576400-79578600	Active TSS	Stomach Smooth Muscle	stomach
38	chr6:79576400-79578800	Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr6:79576600-79578000	Active TSS	Brain Anterior Caudate	brain
40	chr6:79576600-79578000	Active TSS	Thymus	Thymus
41	chr6:79576600-79578000	Active TSS	GM12878-XiMat	blood
42	chr6:79576600-79578000	Active TSS	HSMM	muscle
43	chr6:79576600-79578200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr6:79576600-79578200	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr6:79576600-79578200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr6:79576600-79578200	Active TSS	Fetal Muscle Trunk	muscle
47	chr6:79576600-79578200	Active TSS	Left Ventricle	heart
48	chr6:79576600-79578400	Active TSS	Fetal Intestine Large	intestine
49	chr6:79576600-79578400	Active TSS	Fetal Stomach	stomach
50	chr6:79576600-79578400	Active TSS	Right Ventricle	heart

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