Variant report

Variant	rs6921275
Chromosome Location	chr6:24495922-24495923
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:145)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:145 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELF1	chr6:24494672-24496093	GM12878	blood:	n/a	chr6:24495026-24495038
2	MYC	chr6:24495907-24495940	MCF-7	breast:	n/a	n/a
3	TBP	chr6:24494843-24495984	H1-hESC	embryonic stem cell:	n/a	n/a
4	E2F6	chr6:24495751-24496050	K562	blood:	n/a	n/a
5	MTA3	chr6:24494777-24496155	GM12878	blood:	n/a	n/a
6	ZBTB7A	chr6:24495418-24495963	HepG2	liver:	n/a	n/a
7	POLR2A	chr6:24494911-24496047	HL-60	blood:	n/a	n/a
8	EBF1	chr6:24494866-24495971	GM12878	blood:	n/a	chr6:24495689-24495699 chr6:24495688-24495699
9	POLR2A	chr6:24494917-24496003	GM12878	blood:	n/a	n/a
10	SIN3A	chr6:24494694-24496103	H1-hESC	embryonic stem cell:	n/a	n/a
11	MAX	chr6:24495614-24496192	MCF-7	breast:	n/a	chr6:24495932-24495942
12	CBX3	chr6:24494815-24496262	K562	blood:	n/a	n/a
13	USF1	chr6:24495838-24496043	GM12878	blood:	n/a	n/a
14	CTCF	chr6:24495860-24496010	HRE	kidney:	n/a	n/a
15	MAX	chr6:24495719-24496151	H1-hESC	embryonic stem cell:	n/a	chr6:24495932-24495942
16	KAP1	chr6:24494836-24496050	HEK293	kidney:	n/a	chr6:24494996-24495004
17	USF1	chr6:24495803-24496040	HepG2	liver:	n/a	n/a
18	USF1	chr6:24495736-24496068	ECC-1	luminal epithelium:	n/a	n/a
19	MYC	chr6:24494790-24496136	K562	blood:	n/a	chr6:24495932-24495942
20	MXI1	chr6:24495782-24496070	K562	blood:	n/a	n/a
21	POLR2A	chr6:24494889-24495985	ECC-1	luminal epithelium:	n/a	n/a
22	SMARCB1	chr6:24494645-24496035	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr6:24495265-24495925	HepG2	liver:	n/a	n/a
24	POLR2A	chr6:24494827-24496019	MCF-7	breast:	n/a	n/a
25	MAX	chr6:24494798-24496214	ECC-1	luminal epithelium:	n/a	chr6:24495932-24495942
26	POLR2A	chr6:24494910-24496072	NB4	blood:	n/a	n/a
27	CTCF	chr6:24494347-24496072	SK-N-SH	brain:	n/a	n/a
28	TAF7	chr6:24495070-24495941	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr6:24495820-24495970	GM06990	blood:	n/a	n/a
30	MAX	chr6:24494838-24496188	A549	lung:	n/a	chr6:24495932-24495942
31	E2F6	chr6:24494853-24496071	H1-hESC	embryonic stem cell:	n/a	chr6:24495032-24495041
32	BCLAF1	chr6:24494844-24496229	GM12878	blood:	n/a	chr6:24495035-24495044 chr6:24495925-24495934
33	RCOR1	chr6:24494703-24495960	HepG2	liver:	n/a	n/a
34	HEY1	chr6:24494876-24496060	HepG2	liver:	n/a	n/a
35	POLR2A	chr6:24495766-24495998	MCF-7	breast:	n/a	n/a
36	RCOR1	chr6:24494549-24496168	K562	blood:	n/a	n/a
37	MYC	chr6:24494932-24496022	MCF-7	breast:	n/a	chr6:24495932-24495942
38	ZBTB7A	chr6:24495404-24495990	ECC-1	luminal epithelium:	n/a	n/a
39	FOXA1	chr6:24495683-24495974	T-47D	breast:	n/a	n/a
40	BACH1	chr6:24494725-24495996	H1-hESC	embryonic stem cell:	n/a	n/a
41	FOXA2	chr6:24495567-24496006	A549	lung:	n/a	n/a
42	MYC	chr6:24494869-24496129	K562	blood:	n/a	chr6:24495932-24495942
43	POLR2A	chr6:24494732-24496094	GM19193	blood:	n/a	n/a
44	E2F6	chr6:24495783-24496052	K562	blood:	n/a	n/a
45	EBF1	chr6:24495479-24495976	GM12878	blood:	n/a	chr6:24495689-24495699 chr6:24495688-24495699
46	MAX	chr6:24494825-24496208	ECC-1	luminal epithelium:	n/a	chr6:24495932-24495942
47	RUNX3	chr6:24494775-24496016	GM12878	blood:	n/a	n/a
48	MYC	chr6:24494913-24496134	HepG2	liver:	n/a	chr6:24495932-24495942
49	NANOG	chr6:24495343-24495948	H1-hESC	embryonic stem cell:	n/a	n/a
50	USF1	chr6:24495718-24496070	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:24473016..24474847-chr6:24495882..24498664,2	K562	blood:
2	chr6:24493014..24496474-chr6:24718971..24722650,4	K562	blood:
3	chr6:24493803..24496211-chr6:24773975..24776646,3	K562	blood:
4	chr6:24495510..24496378-chr6:24695478..24696466,2	MCF-7	breast:
5	chr6:24487824..24490266-chr6:24492770..24497111,3	MCF-7	breast:
6	chr6:24431084..24431585-chr6:24495592..24496144,2	MCF-7	breast:
7	chr6:24494650..24496587-chr6:24665440..24668079,2	MCF-7	breast:
8	chr6:24402909..24405943-chr6:24492830..24496087,3	K562	blood:
9	chr6:24488265..24492557-chr6:24493494..24498787,7	K562	blood:
10	chr6:24401784..24404907-chr6:24494976..24497958,4	MCF-7	breast:
11	chr6:24494081..24496615-chr6:24665704..24668263,2	K562	blood:
12	chr6:24494955..24497307-chr6:24719219..24721474,2	MCF-7	breast:
13	chr6:24483355..24485478-chr6:24495554..24497195,2	MCF-7	breast:
14	chr6:24495596..24498223-chr6:24565020..24567302,2	MCF-7	breast:
15	chr6:24495638..24500234-chr6:24504925..24509115,5	K562	blood:

No data

Variant related genes	Relation type
GPLD1	TF binding region
ENSG00000112312	Chromatin interaction
ENSG00000112308	Chromatin interaction
ENSG00000112304	Chromatin interaction
ENSG00000111802	Chromatin interaction
ENSG00000112293	Chromatin interaction
ENSG00000124532	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs2744548	0.86[EUR][1000 genomes]
rs2744549	0.86[EUR][1000 genomes]
rs2744550	0.86[EUR][1000 genomes]
rs2744558	0.86[EUR][1000 genomes]
rs2744561	0.86[EUR][1000 genomes]
rs2760160	0.86[EUR][1000 genomes]
rs2760161	0.86[EUR][1000 genomes]
rs2760162	0.86[EUR][1000 genomes]
rs2760163	0.86[EUR][1000 genomes]
rs2760164	0.86[EUR][1000 genomes]
rs2760180	1.00[EUR][1000 genomes]
rs2817191	0.86[EUR][1000 genomes]
rs2817192	0.86[EUR][1000 genomes]
rs2817193	0.86[EUR][1000 genomes]
rs2817194	0.86[EUR][1000 genomes]
rs2817195	0.86[EUR][1000 genomes]
rs28360750	1.00[EUR][1000 genomes]
rs7740941	1.00[EUR][1000 genomes]
rs7744621	1.00[EUR][1000 genomes]
rs7744939	1.00[EUR][1000 genomes]
rs7749794	1.00[EUR][1000 genomes]
rs7764860	1.00[EUR][1000 genomes]
rs7768735	1.00[EUR][1000 genomes]
rs7770041	1.00[EUR][1000 genomes]
rs7773122	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7773357	1.00[EUR][1000 genomes]
rs9467194	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2763542	chr6:24445131-24520637	Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv519552	chr6:24451256-24524704	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv883480	chr6:24481299-24507519	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	esv34020	chr6:24481299-24606036	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv3351586	chr6:24494123-24497171	Bivalent/Poised TSS Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 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	chr6:24494000-24496000	Active TSS	Brain Angular Gyrus	brain
2	chr6:24494000-24496000	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr6:24494400-24496000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:24494400-24496000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr6:24494400-24496000	Active TSS	Brain Substantia Nigra	brain
6	chr6:24494400-24496000	Active TSS	Fetal Brain Female	brain
7	chr6:24494400-24496200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr6:24494400-24496200	Active TSS	H9 Cell Line	embryonic stem cell
9	chr6:24494400-24496200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
10	chr6:24494400-24496200	Active TSS	Aorta	Aorta
11	chr6:24494400-24496200	Active TSS	Fetal Kidney	kidney
12	chr6:24494400-24496200	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr6:24494600-24496000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr6:24494600-24496000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr6:24494600-24496000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:24494600-24496000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr6:24494600-24496000	Active TSS	Fetal Heart	heart
18	chr6:24494600-24496000	Active TSS	Gastric	stomach
19	chr6:24494600-24496000	Active TSS	Lung	lung
20	chr6:24494600-24496000	Active TSS	Psoas Muscle	Psoas
21	chr6:24494600-24496000	Active TSS	A549	lung
22	chr6:24494600-24496200	Active TSS	Ovary	ovary
23	chr6:24494600-24496200	Active TSS	Pancreas	Pancrea
24	chr6:24494600-24496200	Active TSS	HSMMtube	muscle
25	chr6:24494800-24496000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr6:24494800-24496000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
27	chr6:24494800-24496000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr6:24494800-24496000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
29	chr6:24494800-24496000	Active TSS	Brain Hippocampus Middle	brain
30	chr6:24494800-24496000	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr6:24494800-24496000	Active TSS	Rectal Smooth Muscle	rectum
32	chr6:24494800-24496000	Flanking Active TSS	HMEC	breast
33	chr6:24494800-24496200	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr6:24494800-24496200	Active TSS	Brain Anterior Caudate	brain
35	chr6:24494800-24496200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr6:24494800-24496200	Active TSS	Colon Smooth Muscle	Colon
37	chr6:24494800-24496200	Active TSS	Left Ventricle	heart
38	chr6:24494800-24496200	Active TSS	Right Ventricle	heart
39	chr6:24494800-24496400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr6:24494800-24496600	Active TSS	Brain Cingulate Gyrus	brain
41	chr6:24495000-24496000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
42	chr6:24495000-24496000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr6:24495000-24496000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr6:24495000-24496000	Active TSS	Primary T cells from cord blood	blood
45	chr6:24495000-24496000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr6:24495000-24496000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr6:24495000-24496000	Active TSS	Esophagus	oesophagus
48	chr6:24495000-24496000	Active TSS	Fetal Intestine Large	intestine
49	chr6:24495000-24496000	Active TSS	Rectal Mucosa Donor 31	rectum
50	chr6:24495000-24496000	Active TSS	Sigmoid Colon	Sigmoid Colon

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