Variant report

Variant	rs12333186
Chromosome Location	chr6:24495641-24495642
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:250)
CpG islands
(count:61)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:250 , 50 per page) page: 1 2 3 4 5

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	NFIC	chr6:24494817-24495861	HepG2	liver:	n/a	n/a
3	TBP	chr6:24494843-24495984	H1-hESC	embryonic stem cell:	n/a	n/a
4	MTA3	chr6:24494777-24496155	GM12878	blood:	n/a	n/a
5	ZBTB7A	chr6:24495418-24495963	HepG2	liver:	n/a	n/a
6	POLR2A	chr6:24494911-24496047	HL-60	blood:	n/a	n/a
7	EBF1	chr6:24494866-24495971	GM12878	blood:	n/a	chr6:24495689-24495699 chr6:24495688-24495699
8	POLR2A	chr6:24494917-24496003	GM12878	blood:	n/a	n/a
9	SIN3A	chr6:24494694-24496103	H1-hESC	embryonic stem cell:	n/a	n/a
10	HNF4G	chr6:24494840-24495680	HepG2	liver:	n/a	chr6:24495016-24495029 chr6:24495016-24495028 chr6:24495018-24495040
11	MAX	chr6:24495614-24496192	MCF-7	breast:	n/a	chr6:24495932-24495942
12	ELF1	chr6:24494872-24495822	GM12878	blood:	n/a	chr6:24495026-24495038
13	CBX3	chr6:24494815-24496262	K562	blood:	n/a	n/a
14	CTCF	chr6:24495580-24495730	HUVEC	blood vessel:	n/a	n/a
15	CTCF	chr6:24495560-24495710	HPAF	blood vessel:	n/a	n/a
16	KAP1	chr6:24494836-24496050	HEK293	kidney:	n/a	chr6:24494996-24495004
17	CTCF	chr6:24495520-24495670	GM06990	blood:	n/a	n/a
18	YY1	chr6:24495018-24495645	ECC-1	luminal epithelium:	n/a	chr6:24495026-24495040 chr6:24495032-24495041
19	MYC	chr6:24494790-24496136	K562	blood:	n/a	chr6:24495932-24495942
20	CTCF	chr6:24495436-24495653	H1-hESC	embryonic stem cell:	n/a	n/a
21	SIN3A	chr6:24495495-24495918	GM12878	blood:	n/a	n/a
22	CTCF	chr6:24494883-24495705	K562	blood:	n/a	n/a
23	YY1	chr6:24495130-24495663	GM12891	blood:	n/a	n/a
24	CTCF	chr6:24495520-24495670	GM12875	blood:	n/a	n/a
25	CTCF	chr6:24494930-24495700	IMR90	lung:	n/a	n/a
26	CTCF	chr6:24495500-24495650	HPAF	blood vessel:	n/a	n/a
27	KAP1	chr6:24495342-24495735	U2OS	brain:	n/a	n/a
28	CTCF	chr6:24495500-24495650	NHLF	lung:	n/a	n/a
29	CTCF	chr6:24495285-24495645	GM13977	blood:	n/a	n/a
30	RAD21	chr6:24495382-24495772	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr6:24495433-24495645	GM13976	blood:	n/a	n/a
32	POLR2A	chr6:24494889-24495985	ECC-1	luminal epithelium:	n/a	n/a
33	SMARCB1	chr6:24494645-24496035	Hela-S3	cervix:	n/a	n/a
34	CTCF	chr6:24495265-24495925	HepG2	liver:	n/a	n/a
35	POLR2A	chr6:24494827-24496019	MCF-7	breast:	n/a	n/a
36	MAX	chr6:24494798-24496214	ECC-1	luminal epithelium:	n/a	chr6:24495932-24495942
37	POLR2A	chr6:24494910-24496072	NB4	blood:	n/a	n/a
38	CTCF	chr6:24494347-24496072	SK-N-SH	brain:	n/a	n/a
39	MXI1	chr6:24495008-24495692	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr6:24494995-24495678	GM12878	blood:	n/a	n/a
41	TAF7	chr6:24495070-24495941	H1-hESC	embryonic stem cell:	n/a	n/a
42	TAF1	chr6:24494872-24495859	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr6:24495500-24495650	WERI-Rb-1	eye:	n/a	n/a
44	CTCF	chr6:24495500-24495650	GM12872	blood:	n/a	n/a
45	MAX	chr6:24494838-24496188	A549	lung:	n/a	chr6:24495932-24495942
46	E2F6	chr6:24494853-24496071	H1-hESC	embryonic stem cell:	n/a	chr6:24495032-24495041
47	CTCF	chr6:24495580-24495730	HMEC	breast:	n/a	n/a
48	CTCF	chr6:24495243-24495678	GM19240	blood:	n/a	n/a
49	BCLAF1	chr6:24494844-24496229	GM12878	blood:	n/a	chr6:24495035-24495044 chr6:24495925-24495934
50	RCOR1	chr6:24494703-24495960	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:24495614-24495664	K562	blood:	n/a
2	chr6:24495614-24495664	PANC-1	pancreas:	n/a
3	chr6:24495614-24495664	BJ	skin:	n/a
4	chr6:24495614-24495664	HEEpiC	esophagus:	n/a
5	chr6:24495614-24495664	HCPEpiC	choroid plexus:	n/a
6	chr6:24495614-24495664	HUVEC	blood vessel:	n/a
7	chr6:24495614-24495664	H1-hESC	embryonic stem cell:	embryo
8	chr6:24495614-24495664	AG04449	skin:	fetal
9	chr6:24495614-24495664	NB4	blood:	n/a
10	chr6:24495614-24495664	HRCEpiC	kidney:	n/a
11	chr6:24495614-24495664	HCT-116	colon:	n/a
12	chr6:24495614-24495664	HepG2	liver:	n/a
13	chr6:24495614-24495664	HNPCEpiC	eye:	n/a
14	chr6:24495614-24495664	HMEC	breast:	n/a
15	chr6:24495614-24495664	GM19239	blood:	n/a
16	chr6:24495614-24495664	AG09319	gingival:	n/a
17	chr6:24495614-24495664	Hela-S3	cervix:	n/a
18	chr6:24495614-24495664	HEK293	kidney:	embryo
19	chr6:24495614-24495664	HAEpiC	amniotic membrane:	n/a
20	chr6:24495614-24495664	SAEC	small airway:	n/a
21	chr6:24495614-24495664	NHBE	bronchial:	n/a
22	chr6:24495614-24495664	HCM	heart:	n/a
23	chr6:24495614-24495664	U87	brain:	n/a
24	chr6:24495614-24495664	ProgFib	skin:	n/a
25	chr6:24495614-24495664	ECC-1	luminal epithelium:	n/a
26	chr6:24495614-24495664	RPTEC	kidney:	n/a
27	chr6:24495614-24495664	GM12878	blood:	n/a
28	chr6:24495614-24495664	GM06990	blood:	n/a
29	chr6:24495614-24495664	SK-N-SH	brain:	n/a
30	chr6:24495614-24495664	NHDF-neo	bronchial:	n/a
31	chr6:24495614-24495664	AoSMC	blood vessel:	n/a
32	chr6:24495614-24495664	HCF	heart:	n/a
33	chr6:24495614-24495664	Jurkat	blood:	n/a
34	chr6:24495614-24495664	AG04450	lung:	fetal
35	chr6:24495614-24495664	HIPEpiC	eye:	n/a
36	chr6:24495614-24495664	Caco-2	colon:	n/a
37	chr6:24495614-24495664	AG09309	skin:	n/a
38	chr6:24495614-24495664	HPAEpiC	pulmonary alveolar:	n/a
39	chr6:24495614-24495664	NH-A	brain:	n/a
40	chr6:24495614-24495664	GM12892	blood:	n/a
41	chr6:24495614-24495664	LNCaP	prostate:	n/a
42	chr6:24495614-24495664	A549	lung:	n/a
43	chr6:24495614-24495664	T-47D	breast:	n/a
44	chr6:24495614-24495664	SKMC	muscle:	n/a
45	chr6:24495614-24495664	HRPEpiC	eye:	n/a
46	chr6:24495614-24495664	SK-N-SH_RA	brain:	n/a
47	chr6:24495614-24495664	SK-N-MC	brain:	n/a
48	chr6:24495614-24495664	HRE	kidney:	n/a
49	chr6:24495614-24495664	MCF10A-Er-Src	breast:	n/a
50	chr6:24495614-24495664	CMK	blood:	n/a

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:24493014..24496474-chr6:24718971..24722650,4	K562	blood:
2	chr6:24493803..24496211-chr6:24773975..24776646,3	K562	blood:
3	chr6:24495510..24496378-chr6:24695478..24696466,2	MCF-7	breast:
4	chr6:24492199..24495699-chr6:24718792..24721987,5	K562	blood:
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	chr6:24487096..24491354-chr6:24491448..24495730,8	K562	blood:
16	chr6:24495638..24500234-chr6:24504925..24509115,5	K562	blood:

No data

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

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12332800	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12332882	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6919046	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73728139	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9467200	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9467233	1.00[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:127 , 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	chr6:24494400-24495800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
4	chr6:24494400-24496000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr6:24494400-24496000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr6:24494400-24496000	Active TSS	Brain Substantia Nigra	brain
7	chr6:24494400-24496000	Active TSS	Fetal Brain Female	brain
8	chr6:24494400-24496200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr6:24494400-24496200	Active TSS	H9 Cell Line	embryonic stem cell
10	chr6:24494400-24496200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
11	chr6:24494400-24496200	Active TSS	Aorta	Aorta
12	chr6:24494400-24496200	Active TSS	Fetal Kidney	kidney
13	chr6:24494400-24496200	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr6:24494600-24495800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:24494600-24495800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr6:24494600-24495800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr6:24494600-24495800	Flanking Active TSS	Colonic Mucosa	Colon
18	chr6:24494600-24496000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr6:24494600-24496000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
20	chr6:24494600-24496000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:24494600-24496000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr6:24494600-24496000	Active TSS	Fetal Heart	heart
23	chr6:24494600-24496000	Active TSS	Gastric	stomach
24	chr6:24494600-24496000	Active TSS	Lung	lung
25	chr6:24494600-24496000	Active TSS	Psoas Muscle	Psoas
26	chr6:24494600-24496000	Active TSS	A549	lung
27	chr6:24494600-24496200	Active TSS	Ovary	ovary
28	chr6:24494600-24496200	Active TSS	Pancreas	Pancrea
29	chr6:24494600-24496200	Active TSS	HSMMtube	muscle
30	chr6:24494800-24495800	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr6:24494800-24495800	Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr6:24494800-24495800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
33	chr6:24494800-24495800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
34	chr6:24494800-24495800	Active TSS	Small Intestine	intestine
35	chr6:24494800-24495800	Active TSS	NHLF	lung
36	chr6:24494800-24496000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr6:24494800-24496000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
38	chr6:24494800-24496000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr6:24494800-24496000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
40	chr6:24494800-24496000	Active TSS	Brain Hippocampus Middle	brain
41	chr6:24494800-24496000	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr6:24494800-24496000	Active TSS	Rectal Smooth Muscle	rectum
43	chr6:24494800-24496000	Flanking Active TSS	HMEC	breast
44	chr6:24494800-24496200	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr6:24494800-24496200	Active TSS	Brain Anterior Caudate	brain
46	chr6:24494800-24496200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr6:24494800-24496200	Active TSS	Colon Smooth Muscle	Colon
48	chr6:24494800-24496200	Active TSS	Left Ventricle	heart
49	chr6:24494800-24496200	Active TSS	Right Ventricle	heart
50	chr6:24494800-24496400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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