Variant report

Variant	rs73407254
Chromosome Location	chr6:28833392-28833393
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:69)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:69 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MBD4	chr6:28833290-28833767	HepG2	liver:	n/a	n/a
2	CBX3	chr6:28833095-28834041	K562	blood:	n/a	n/a
3	TCF7L2	chr6:28833010-28833791	HEK293	kidney:	n/a	n/a
4	NFYB	chr6:28833219-28834388	GM12878	blood:	n/a	chr6:28833721-28833736
5	EP300	chr6:28833380-28833876	HepG2	liver:	n/a	n/a
6	MAX	chr6:28833275-28833820	A549	lung:	n/a	n/a
7	POLR2A	chr6:28833220-28833781	HepG2	liver:	n/a	n/a
8	NFYB	chr6:28833295-28834269	K562	blood:	n/a	chr6:28833721-28833736
9	POLR2A	chr6:28832767-28833855	PFSK-1	brain:	n/a	n/a
10	POLR2A	chr6:28833266-28833759	U87	brain:	n/a	n/a
11	TCF7L2	chr6:28833265-28833821	PANC-1	pancreas:	n/a	n/a
12	SP1	chr6:28833253-28834578	A549	lung:	n/a	n/a
13	POLR2A	chr6:28833291-28834002	H1-hESC	embryonic stem cell:	n/a	n/a
14	KAP1	chr6:28833353-28833956	U2OS	brain:	n/a	n/a
15	POLR2A	chr6:28833064-28833876	PANC-1	pancreas:	n/a	n/a
16	SP1	chr6:28833389-28834362	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr6:28833122-28833793	HepG2	liver:	n/a	n/a
18	MAFF	chr6:28833366-28834173	HepG2	liver:	n/a	n/a
19	ZBTB33	chr6:28833167-28833833	A549	lung:	n/a	n/a
20	POLR2A	chr6:28833101-28833825	K562	blood:	n/a	n/a
21	EP300	chr6:28833389-28833991	A549	lung:	n/a	n/a
22	NFYA	chr6:28833232-28834278	K562	blood:	n/a	chr6:28833763-28833781 chr6:28833715-28833733
23	SP1	chr6:28833383-28834147	K562	blood:	n/a	n/a
24	ELK4	chr6:28832836-28833683	HEK293	kidney:	n/a	n/a
25	NFIC	chr6:28833257-28833979	HepG2	liver:	n/a	n/a
26	HEY1	chr6:28833123-28833874	HepG2	liver:	n/a	n/a
27	HEY1	chr6:28833212-28833718	K562	blood:	n/a	n/a
28	E2F6	chr6:28833266-28833882	H1-hESC	embryonic stem cell:	n/a	n/a
29	NFIC	chr6:28833234-28833870	HepG2	liver:	n/a	n/a
30	MAX	chr6:28833227-28833820	A549	lung:	n/a	n/a
31	POLR2A	chr6:28833035-28833984	HepG2	liver:	n/a	n/a
32	POLR2A	chr6:28832988-28834982	H1-hESC	embryonic stem cell:	n/a	n/a
33	HEY1	chr6:28832668-28833841	HepG2	liver:	n/a	n/a
34	POLR2A	chr6:28833073-28833769	SK-N-SH	brain:	n/a	n/a
35	POLR2A	chr6:28833380-28833735	HepG2	liver:	n/a	n/a
36	POLR2A	chr6:28833179-28833862	PFSK-1	brain:	n/a	n/a
37	POLR2A	chr6:28833268-28833744	ECC-1	luminal epithelium:	n/a	n/a
38	CEBPD	chr6:28833333-28833692	HepG2	liver:	n/a	n/a
39	TAF7	chr6:28833357-28833785	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr6:28833313-28833652	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr6:28832959-28835175	SK-N-MC	brain:	n/a	n/a
42	POLR2A	chr6:28833024-28833846	HEK293	kidney:	n/a	n/a
43	POLR2A	chr6:28833331-28833768	K562	blood:	n/a	n/a
44	ELF1	chr6:28833305-28833727	HepG2	liver:	n/a	n/a
45	SP1	chr6:28833382-28834363	HepG2	liver:	n/a	n/a
46	POLR2A	chr6:28833207-28833774	HepG2	liver:	n/a	n/a
47	SP1	chr6:28833309-28834637	A549	lung:	n/a	n/a
48	ZBTB33	chr6:28833343-28833720	HepG2	liver:	n/a	n/a
49	MYBL2	chr6:28833124-28834942	HepG2	liver:	n/a	n/a
50	TAF1	chr6:28833392-28833756	PFSK-1	brain:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:28803282..28808663-chr6:28829877..28836776,13	K562	blood:
2	chr6:26156500..26158004-chr6:28832615..28834649,2	K562	blood:
3	chr6:28833014..28834989-chr6:28890241..28892787,3	K562	blood:
4	chr6:28832887..28834550-chr6:28979904..28981561,2	K562	blood:
5	chr6:28802885..28808466-chr6:28831550..28836351,8	MCF-7	breast:
6	chr6:28833109..28835315-chr6:29719168..29721447,2	K562	blood:
7	chr6:28832613..28834387-chr6:28980061..28982005,2	K562	blood:
8	chr6:28803282..28808495-chr6:28830531..28834946,8	K562	blood:
9	chr6:28828478..28839935-chr6:28855092..28866386,31	K562	blood:
10	chr6:28830882..28836292-chr6:28860588..28866545,10	MCF-7	breast:
11	chr6:28833354..28837219-chr6:28837839..28842041,5	MCF-7	breast:
12	chr6:28831130..28836886-chr6:28890033..28892870,9	MCF-7	breast:
13	chr6:28833368..28835844-chr6:28972691..28974962,2	MCF-7	breast:
14	chr6:28831640..28835125-chr6:28890004..28893108,3	MCF-7	breast:
15	chr6:28833368..28834989-chr6:28890241..28892472,3	K562	blood:
16	chr6:28831550..28833211-chr6:28833226..28834745,2	MCF-7	breast:
17	chr6:28823126..28835109-chr6:28859268..28867076,23	K562	blood:

No data

Variant related genes	Relation type
ENSG00000225595	TF binding region
ENSG00000233366	Chromatin interaction
ENSG00000224157	Chromatin interaction
ENSG00000204713	Chromatin interaction
ENSG00000272236	Chromatin interaction
ENSG00000168298	Chromatin interaction
ENSG00000225595	Chromatin interaction
ENSG00000225173	Chromatin interaction
ENSG00000197935	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11753443	0.90[EUR][1000 genomes]
rs11759525	0.82[EUR][1000 genomes]
rs11961493	1.00[EUR][1000 genomes]
rs11964044	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11965253	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11966136	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11966547	1.00[EUR][1000 genomes]
rs11966708	0.90[EUR][1000 genomes]
rs11966949	0.90[EUR][1000 genomes]
rs11968644	0.82[EUR][1000 genomes]
rs3131103	1.00[EUR][1000 genomes]
rs34840519	1.00[EUR][1000 genomes]
rs57147168	0.90[EUR][1000 genomes]
rs58025129	0.90[EUR][1000 genomes]
rs58971829	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59858792	1.00[EUR][1000 genomes]
rs60137363	0.90[EUR][1000 genomes]
rs6456867	1.00[EUR][1000 genomes]
rs73391136	0.90[EUR][1000 genomes]
rs73391137	0.90[EUR][1000 genomes]
rs73391164	0.90[EUR][1000 genomes]
rs73391166	0.90[EUR][1000 genomes]
rs73391169	0.90[EUR][1000 genomes]
rs73393707	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73403142	0.90[EUR][1000 genomes]
rs73403155	0.90[EUR][1000 genomes]
rs73403156	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73403159	0.90[EUR][1000 genomes]
rs73403165	0.90[EUR][1000 genomes]
rs73403179	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73403189	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73407223	1.00[EUR][1000 genomes]
rs73408589	1.00[EUR][1000 genomes]
rs73409134	0.90[EUR][1000 genomes]
rs7749527	1.00[EUR][1000 genomes]
rs7755410	0.89[EUR][1000 genomes]
rs7762991	0.82[EUR][1000 genomes]
rs9461478	0.82[EUR][1000 genomes]
rs9468420	0.82[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	nsv534089	chr6:28636972-28841640	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv883518	chr6:28792477-28911802	Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
3	nsv883519	chr6:28792477-28936556	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
4	nsv427748	chr6:28831888-28999434	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
5	nsv601212	chr6:28833225-28893927	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28830600-28834800	Active TSS	A549	lung
2	chr6:28831000-28834800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr6:28831000-28835000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:28832400-28833400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr6:28832400-28834200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:28832600-28833400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr6:28832600-28833400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr6:28832600-28833400	Weak transcription	Adipose Nuclei	Adipose
9	chr6:28832600-28833400	Weak transcription	Colon Smooth Muscle	Colon
10	chr6:28832600-28833400	Weak transcription	Esophagus	oesophagus
11	chr6:28832600-28833600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
12	chr6:28832600-28833600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr6:28832600-28833600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr6:28832600-28833600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr6:28832600-28833800	Weak transcription	Brain Angular Gyrus	brain
16	chr6:28832600-28833800	Weak transcription	Fetal Kidney	kidney
17	chr6:28832600-28834000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr6:28832600-28834000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr6:28832600-28834000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr6:28832600-28834000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr6:28832600-28834000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr6:28832600-28834000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr6:28832600-28834000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
24	chr6:28832600-28834000	Enhancers	Primary T cells fromperipheralblood	blood
25	chr6:28832600-28834000	Weak transcription	Brain Hippocampus Middle	brain
26	chr6:28832600-28834000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr6:28832600-28834000	Weak transcription	Brain Substantia Nigra	brain
28	chr6:28832600-28834000	Weak transcription	Colonic Mucosa	Colon
29	chr6:28832600-28834000	Weak transcription	Fetal Muscle Trunk	muscle
30	chr6:28832600-28834000	Weak transcription	Pancreas	Pancrea
31	chr6:28832600-28834000	Weak transcription	Right Atrium	heart
32	chr6:28832600-28834000	Weak transcription	HSMMtube	muscle
33	chr6:28832600-28834000	Weak transcription	Osteobl	bone
34	chr6:28832600-28834200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr6:28832600-28834200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr6:28832600-28834200	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr6:28832600-28834200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr6:28832600-28834200	Weak transcription	Aorta	Aorta
39	chr6:28832600-28834200	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr6:28832600-28834200	Weak transcription	Gastric	stomach
41	chr6:28832600-28834200	Weak transcription	Left Ventricle	heart
42	chr6:28832600-28834200	Weak transcription	Lung	lung
43	chr6:28832600-28834200	Weak transcription	Ovary	ovary
44	chr6:28832600-28834200	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr6:28832600-28834200	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr6:28832600-28834200	Weak transcription	Spleen	Spleen
47	chr6:28832600-28834200	Weak transcription	NH-A	brain
48	chr6:28832600-28834200	Weak transcription	NHDF-Ad	bronchial
49	chr6:28832600-28835200	Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr6:28832800-28833400	Weak transcription	Primary monocytes fromperipheralblood	blood

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