Variant report

Variant	rs4648257
Chromosome Location	chr1:186649540-186649541
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:331)
CpG islands
(count:122)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:331 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CREB1	chr1:186649314-186649816	GM12878	blood:	n/a	n/a
2	POLR2A	chr1:186649202-186650146	GM12892	blood:	n/a	n/a
3	CTCF	chr1:186649251-186649625	MCF-7	breast:	n/a	n/a
4	ELK4	chr1:186649192-186650114	Hela-S3	cervix:	n/a	n/a
5	MAX	chr1:186649177-186650275	A549	lung:	n/a	chr1:186650056-186650064
6	MAX	chr1:186649045-186650512	A549	lung:	n/a	chr1:186650056-186650064
7	CTCF	chr1:186649400-186649550	NHEK	skin:	n/a	n/a
8	GABPA	chr1:186649324-186650016	A549	lung:	n/a	n/a
9	CTCF	chr1:186649460-186649610	HPF	lung:	n/a	n/a
10	CEBPB	chr1:186649223-186650014	ECC-1	luminal epithelium:	n/a	chr1:186649680-186649689 chr1:186649678-186649691 chr1:186649680-186649689 chr1:186649680-186649689
11	CTCF	chr1:186649440-186649590	HL-60	blood:	n/a	n/a
12	ZNF143	chr1:186649104-186650272	Hela-S3	cervix:	n/a	chr1:186649986-186649996
13	CTCF	chr1:186649351-186649598	GM10248	blood:	n/a	n/a
14	FOS	chr1:186649376-186649799	MCF10A-Er-Src	breast:	n/a	n/a
15	CTCF	chr1:186649440-186649590	GM12864	blood:	n/a	n/a
16	POLR2A	chr1:186649302-186649991	ECC-1	luminal epithelium:	n/a	n/a
17	POLR2A	chr1:186649222-186649964	HCT-116	colon:	n/a	n/a
18	POLR2A	chr1:186649181-186650112	HUVEC	blood vessel:	n/a	n/a
19	RAD21	chr1:186649044-186649993	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr1:186649262-186649632	MCF-7	breast:	n/a	n/a
21	CTCF	chr1:186649440-186649590	GM12801	blood:	n/a	n/a
22	CTCF	chr1:186649400-186649550	AG04449	skin:	n/a	n/a
23	USF2	chr1:186649379-186649733	H1-hESC	embryonic stem cell:	n/a	chr1:186649602-186649613
24	POLR2A	chr1:186649187-186650058	U87	brain:	n/a	n/a
25	FOS	chr1:186649380-186649806	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr1:186649290-186649582	MCF-7	breast:	n/a	n/a
27	POLR2A	chr1:186649021-186650646	HUVEC	blood vessel:	n/a	n/a
28	POLR2A	chr1:186649316-186649982	SK-N-SH	brain:	n/a	n/a
29	MAX	chr1:186649378-186649665	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr1:186649400-186649550	SAEC	small airway:	n/a	n/a
31	CTCF	chr1:186649318-186649579	GM19239	blood:	n/a	n/a
32	CTCF	chr1:186649298-186649614	GM13976	blood:	n/a	n/a
33	CTCF	chr1:186649440-186649590	HAc	cerebellar:	n/a	n/a
34	POLR2A	chr1:186649252-186650087	ECC-1	luminal epithelium:	n/a	n/a
35	FOS	chr1:186649412-186649828	MCF10A-Er-Src	breast:	n/a	n/a
36	SIN3A	chr1:186649226-186650177	H1-hESC	embryonic stem cell:	n/a	n/a
37	TCF7L2	chr1:186649153-186650272	Hela-S3	cervix:	n/a	n/a
38	TCF12	chr1:186649209-186649615	GM12878	blood:	n/a	n/a
39	CTCF	chr1:186649420-186649570	GM12875	blood:	n/a	n/a
40	POLR2A	chr1:186649290-186650024	HCT-116	colon:	n/a	n/a
41	FOXP2	chr1:186649278-186649575	SK-N-MC	brain:	n/a	n/a
42	CTCF	chr1:186649207-186649815	IMR90	lung:	n/a	n/a
43	TAF1	chr1:186649229-186650074	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr1:186649190-186650101	A549	lung:	n/a	n/a
45	BCL3	chr1:186649029-186650035	A549	lung:	n/a	chr1:186650009-186650022 chr1:186650012-186650021 chr1:186650006-186650019 chr1:186649718-186649727 chr1:186650010-186650023 chr1:186650009-186650018 chr1:186649344-186649357
46	CTCF	chr1:186649372-186649586	Lung_OC	lung:	n/a	n/a
47	EP300	chr1:186649433-186649860	Hela-S3	cervix:	n/a	n/a
48	CTCF	chr1:186649158-186649618	H1-hESC	embryonic stem cell:	n/a	n/a
49	ZNF143	chr1:186649416-186649584	GM12878	blood:	n/a	n/a
50	GATA3	chr1:186649098-186650206	A549	lung:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:186649519-186649569	GM12878	blood:	n/a
2	chr1:186649530-186649580	HRE	kidney:	n/a
3	chr1:186649519-186649569	HNPCEpiC	eye:	n/a
4	chr1:186649530-186649580	AG04449	skin:	fetal
5	chr1:186649519-186649569	AG04450	lung:	fetal
6	chr1:186649519-186649569	GM19239	blood:	n/a
7	chr1:186649530-186649580	HNPCEpiC	eye:	n/a
8	chr1:186649530-186649580	HepG2	liver:	n/a
9	chr1:186649519-186649569	PrEC	prostate:	n/a
10	chr1:186649530-186649580	NT2-D1	testis:	n/a
11	chr1:186649519-186649569	HMEC	breast:	n/a
12	chr1:186649519-186649569	HCT-116	colon:	n/a
13	chr1:186649519-186649569	K562	blood:	n/a
14	chr1:186649530-186649580	IMR90	lung:	fetal
15	chr1:186649519-186649569	ProgFib	skin:	n/a
16	chr1:186649530-186649580	MCF-7	breast:	n/a
17	chr1:186649519-186649569	LNCaP	prostate:	n/a
18	chr1:186649519-186649569	NT2-D1	testis:	n/a
19	chr1:186649530-186649580	HL-60	blood:	n/a
20	chr1:186649530-186649580	NHBE	bronchial:	n/a
21	chr1:186649519-186649569	U87	brain:	n/a
22	chr1:186649530-186649580	AG04450	lung:	fetal
23	chr1:186649519-186649569	Jurkat	blood:	n/a
24	chr1:186649530-186649580	SK-N-SH	brain:	n/a
25	chr1:186649519-186649569	Hela-S3	cervix:	n/a
26	chr1:186649530-186649580	HCPEpiC	choroid plexus:	n/a
27	chr1:186649519-186649569	SAEC	small airway:	n/a
28	chr1:186649519-186649569	SK-N-SH_RA	brain:	n/a
29	chr1:186649519-186649569	AG09319	gingival:	n/a
30	chr1:186649530-186649580	GM12892	blood:	n/a
31	chr1:186649519-186649569	SK-N-SH	brain:	n/a
32	chr1:186649530-186649580	CMK	blood:	n/a
33	chr1:186649519-186649569	A549	lung:	n/a
34	chr1:186649519-186649569	GM06990	blood:	n/a
35	chr1:186649530-186649580	HMEC	breast:	n/a
36	chr1:186649530-186649580	HAEpiC	amniotic membrane:	n/a
37	chr1:186649519-186649569	HEK293	kidney:	embryo
38	chr1:186649530-186649580	HIPEpiC	eye:	n/a
39	chr1:186649530-186649580	ProgFib	skin:	n/a
40	chr1:186649530-186649580	BJ	skin:	n/a
41	chr1:186649530-186649580	HCT-116	colon:	n/a
42	chr1:186649530-186649580	PrEC	prostate:	n/a
43	chr1:186649519-186649569	SK-N-MC	brain:	n/a
44	chr1:186649519-186649569	MCF-7	breast:	n/a
45	chr1:186649530-186649580	Jurkat	blood:	n/a
46	chr1:186649519-186649569	NH-A	brain:	n/a
47	chr1:186649519-186649569	ovcar-3	ovarian:	n/a
48	chr1:186649530-186649580	Caco-2	colon:	n/a
49	chr1:186649530-186649580	SK-N-SH_RA	brain:	n/a
50	chr1:186649530-186649580	HRCEpiC	kidney:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:186649431..186649985-chr16:2014442..2015162,2	Hela-S3	cervix:
2	chr1:186649372..186649943-chr6:111136234..111137226,2	Hela-S3	cervix:
3	chr1:186649238..186650022-chr6:27860827..27861541,2	Hela-S3	cervix:
4	chr1:186649389..186649931-chr12:46766242..46766816,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
PTGS2	TF binding region
ENSG00000273129	TF binding region
ENSG00000273129	CpG island
PTGS2	CpG island
ENSG00000255198	Chromatin interaction
ENSG00000134294	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000196331	Chromatin interaction
ENSG00000140988	Chromatin interaction
ENSG00000155111	Chromatin interaction
ENSG00000233224	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10752972	1.00[ASN][1000 genomes]
rs12088741	1.00[ASN][1000 genomes]
rs12738146	1.00[ASN][1000 genomes]
rs1883272	1.00[ASN][1000 genomes]
rs1997673	1.00[ASN][1000 genomes]
rs2064132	1.00[ASN][1000 genomes]
rs2066823	1.00[ASN][1000 genomes]
rs2066824	1.00[ASN][1000 genomes]
rs2205952	1.00[ASN][1000 genomes]
rs3218622	1.00[ASN][1000 genomes]
rs3218623	1.00[ASN][1000 genomes]
rs3218624	1.00[ASN][1000 genomes]
rs4140563	1.00[ASN][1000 genomes]
rs4648260	1.00[ASN][1000 genomes]
rs4648262	1.00[ASN][1000 genomes]
rs4648264	1.00[ASN][1000 genomes]
rs4648265	1.00[ASN][1000 genomes]
rs4648267	1.00[ASN][1000 genomes]
rs4648296	1.00[ASN][1000 genomes]
rs4648297	1.00[ASN][1000 genomes]
rs4648299	1.00[ASN][1000 genomes]
rs4651325	1.00[ASN][1000 genomes]
rs5270	1.00[ASN][1000 genomes]
rs5271	1.00[ASN][1000 genomes]
rs5278	1.00[ASN][1000 genomes]
rs55749947	1.00[ASN][1000 genomes]
rs56253891	1.00[ASN][1000 genomes]
rs57412622	1.00[ASN][1000 genomes]
rs61403154	1.00[ASN][1000 genomes]
rs66476634	1.00[ASN][1000 genomes]
rs74134986	1.00[ASN][1000 genomes]
rs74134987	1.00[ASN][1000 genomes]
rs74134988	1.00[ASN][1000 genomes]
rs74135000	1.00[ASN][1000 genomes]
rs74137506	1.00[ASN][1000 genomes]
rs74137507	1.00[ASN][1000 genomes]
rs74137508	1.00[ASN][1000 genomes]
rs74137513	1.00[ASN][1000 genomes]
rs7552522	1.00[ASN][1000 genomes]
rs760707	1.00[ASN][1000 genomes]
rs760708	1.00[ASN][1000 genomes]
rs760709	1.00[ASN][1000 genomes]
rs988905	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv2762854	chr1:186547101-186847574	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv872590	chr1:186557453-187500338	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv470750	chr1:186642429-186700959	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv548403	chr1:186642429-186700959	Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186646400-186651000	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr1:186647000-186652000	Active TSS	Stomach Smooth Muscle	stomach
3	chr1:186647600-186651000	Active TSS	A549	lung
4	chr1:186647800-186651800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:186648000-186651200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:186648000-186651600	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr1:186648000-186651800	Active TSS	Colon Smooth Muscle	Colon
8	chr1:186648000-186651800	Active TSS	NHDF-Ad	bronchial
9	chr1:186648200-186650600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:186648200-186651000	Active TSS	Fetal Stomach	stomach
11	chr1:186648200-186651000	Active TSS	Osteobl	bone
12	chr1:186648200-186651200	Active TSS	NH-A	brain
13	chr1:186648400-186650400	Bivalent/Poised TSS	Primary B cells from cord blood	blood
14	chr1:186648400-186650400	Active TSS	Esophagus	oesophagus
15	chr1:186648400-186650800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:186648400-186650800	Active TSS	Colonic Mucosa	Colon
17	chr1:186648400-186650800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
18	chr1:186648400-186651000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr1:186648400-186652000	Active TSS	Right Atrium	heart
20	chr1:186648600-186650400	Active TSS	HUVEC	blood vessel
21	chr1:186648600-186651000	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr1:186648600-186651200	Active TSS	Hela-S3	cervix
23	chr1:186648600-186651400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:186648600-186651400	Active TSS	NHLF	lung
25	chr1:186648600-186651600	Active TSS	HMEC	breast
26	chr1:186648600-186651800	Active TSS	Rectal Smooth Muscle	rectum
27	chr1:186648600-186652000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:186648600-186652000	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr1:186648600-186652400	Active TSS	NHEK	skin
30	chr1:186648800-186650000	Active TSS	Brain Hippocampus Middle	brain
31	chr1:186648800-186650400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
32	chr1:186648800-186650600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr1:186648800-186650800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:186648800-186650800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
35	chr1:186648800-186650800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:186648800-186650800	Active TSS	Duodenum Mucosa	Duodenum
37	chr1:186648800-186650800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
38	chr1:186649000-186649600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
39	chr1:186649000-186649600	Bivalent/Poised TSS	Fetal Thymus	thymus
40	chr1:186649000-186649600	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
41	chr1:186649000-186649600	Bivalent/Poised TSS	Stomach Mucosa	stomach
42	chr1:186649000-186649800	Active TSS	Primary T cells from cord blood	blood
43	chr1:186649000-186649800	Bivalent/Poised TSS	Primary Natural Killer cells fromperipheralblood	blood
44	chr1:186649000-186650000	Active TSS	Fetal Kidney	kidney
45	chr1:186649000-186650200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr1:186649000-186650200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
47	chr1:186649000-186650200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr1:186649000-186650200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr1:186649000-186650200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
50	chr1:186649000-186650200	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain

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