Variant report

Variant	rs1418719
Chromosome Location	chr1:192776672-192776673
allele	C/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	RAD21	chr1:192776556-192777077	A549	lung:	n/a	n/a
2	E2F4	chr1:192776540-192776859	MCF10A-Er-Src	breast:	n/a	n/a
3	KAP1	chr1:192776513-192779169	HEK293	kidney:	n/a	chr1:192777251-192777259 chr1:192776622-192776631
4	FOS	chr1:192776343-192777370	MCF10A-Er-Src	breast:	n/a	chr1:192777174-192777181 chr1:192776620-192776630 chr1:192777172-192777183 chr1:192776622-192776629 chr1:192777173-192777182 chr1:192777174-192777182 chr1:192776621-192776629
5	MYC	chr1:192776444-192778399	MCF10A-Er-Src	breast:	n/a	chr1:192777344-192777353 chr1:192777345-192777352 chr1:192777342-192777355 chr1:192777173-192777182 chr1:192777174-192777183 chr1:192777344-192777353 chr1:192777343-192777354 chr1:192777343-192777353 chr1:192777344-192777354
6	CREB1	chr1:192776362-192776905	GM12878	blood:	n/a	n/a
7	CUX1	chr1:192776470-192776751	GM12878	blood:	n/a	n/a
8	MAFK	chr1:192776459-192776744	IMR90	lung:	n/a	chr1:192776622-192776631
9	CEBPB	chr1:192776495-192776792	A549	lung:	n/a	n/a
10	MYC	chr1:192776515-192778884	MCF10A-Er-Src	breast:	n/a	chr1:192777344-192777353 chr1:192777345-192777352 chr1:192777342-192777355 chr1:192777173-192777182 chr1:192777174-192777183 chr1:192777344-192777353 chr1:192777343-192777354 chr1:192777343-192777353 chr1:192777344-192777354
11	POLR2A	chr1:192776209-192783463	IMR90	lung:	n/a	n/a
12	MAX	chr1:192776343-192778901	A549	lung:	n/a	chr1:192777344-192777353 chr1:192777345-192777352 chr1:192777342-192777355 chr1:192777173-192777182 chr1:192777174-192777183 chr1:192777344-192777353 chr1:192777343-192777354 chr1:192777343-192777353 chr1:192777344-192777354
13	BATF	chr1:192776481-192776708	GM12878	blood:	n/a	chr1:192776617-192776628
14	EP300	chr1:192776405-192776691	GM12878	blood:	n/a	n/a
15	POLR2A	chr1:192776512-192778631	HUVEC	blood vessel:	n/a	n/a
16	POU2F2	chr1:192776128-192776915	GM12878	blood:	n/a	chr1:192776231-192776241 chr1:192776656-192776669 chr1:192776228-192776242 chr1:192776658-192776668 chr1:192776228-192776243 chr1:192776658-192776668 chr1:192776229-192776240 chr1:192776232-192776239 chr1:192776225-192776238 chr1:192776231-192776240 chr1:192776657-192776669 chr1:192776229-192776242 chr1:192776866-192776881 chr1:192776230-192776242 chr1:192776658-192776667 chr1:192776135-192776148 chr1:192776231-192776241 chr1:192776226-192776244 chr1:192776868-192776883 chr1:192776231-192776239 chr1:192776230-192776240 chr1:192776224-192776245
17	MAX	chr1:192776579-192776779	GM12878	blood:	n/a	n/a
18	RAD21	chr1:192776532-192777057	HCT-116	colon:	n/a	n/a
19	POLR2A	chr1:192775823-192784756	MCF10A-Er-Src	breast:	n/a	n/a
20	STAT3	chr1:192776231-192777354	MCF10A-Er-Src	breast:	n/a	chr1:192777173-192777182 chr1:192776876-192776883 chr1:192777174-192777183
21	POLR2A	chr1:192776456-192778555	HUVEC	blood vessel:	n/a	n/a
22	STAT3	chr1:192776345-192777421	MCF10A-Er-Src	breast:	n/a	chr1:192777173-192777182 chr1:192776876-192776883 chr1:192777174-192777183
23	RAD21	chr1:192776631-192777032	SK-N-SH_RA	brain:	n/a	n/a
24	RFX5	chr1:192776550-192776721	GM12878	blood:	n/a	n/a
25	STAT3	chr1:192776565-192777291	MCF10A-Er-Src	breast:	n/a	chr1:192777173-192777182 chr1:192776876-192776883 chr1:192777174-192777183
26	FOS	chr1:192776419-192777367	MCF10A-Er-Src	breast:	n/a	chr1:192777174-192777181 chr1:192776620-192776630 chr1:192777172-192777183 chr1:192776622-192776629 chr1:192777173-192777182 chr1:192777174-192777182 chr1:192776621-192776629
27	STAT3	chr1:192776358-192776879	GM12878	blood:	n/a	n/a
28	RCOR1	chr1:192776474-192776737	GM12878	blood:	n/a	n/a
29	FOS	chr1:192776360-192777630	HUVEC	blood vessel:	n/a	chr1:192777174-192777181 chr1:192776620-192776630 chr1:192777172-192777183 chr1:192776622-192776629 chr1:192777173-192777182 chr1:192777174-192777182 chr1:192776621-192776629
30	FOSL2	chr1:192776395-192777453	A549	lung:	n/a	chr1:192777174-192777181 chr1:192776620-192776630 chr1:192776622-192776629 chr1:192777173-192777182 chr1:192777174-192777182 chr1:192776621-192776629
31	MAZ	chr1:192776633-192776827	GM12878	blood:	n/a	n/a
32	MAFK	chr1:192776494-192776734	HepG2	liver:	n/a	chr1:192776622-192776631
33	CHD1	chr1:192776053-192782472	IMR90	lung:	n/a	n/a
34	RAD21	chr1:192776558-192777006	SK-N-SH_RA	brain:	n/a	n/a
35	CTCF	chr1:192776640-192776790	HCM	heart:	n/a	n/a
36	POLR2A	chr1:192775981-192784209	MCF10A-Er-Src	breast:	n/a	n/a
37	EP300	chr1:192776309-192776770	GM12878	blood:	n/a	n/a
38	STAT3	chr1:192776249-192777423	MCF10A-Er-Src	breast:	n/a	chr1:192777173-192777182 chr1:192776876-192776883 chr1:192777174-192777183
39	RAD21	chr1:192776659-192777538	Hela-S3	cervix:	n/a	n/a
40	CTCF	chr1:192776580-192776730	A549	lung:	n/a	n/a
41	MXI1	chr1:192776009-192779800	IMR90	lung:	n/a	chr1:192777343-192777352
42	FOS	chr1:192776194-192777467	MCF10A-Er-Src	breast:	n/a	chr1:192777174-192777181 chr1:192776620-192776630 chr1:192777172-192777183 chr1:192776622-192776629 chr1:192777173-192777182 chr1:192777174-192777182 chr1:192776621-192776629
43	BHLHE40	chr1:192776498-192776772	GM12878	blood:	n/a	n/a
44	TBL1XR1	chr1:192776359-192776701	GM12878	blood:	n/a	n/a
45	CTCF	chr1:192776620-192776770	HVMF	connective:	n/a	n/a
46	FOS	chr1:192776407-192777428	MCF10A-Er-Src	breast:	n/a	chr1:192777174-192777181 chr1:192776620-192776630 chr1:192777172-192777183 chr1:192776622-192776629 chr1:192777173-192777182 chr1:192777174-192777182 chr1:192776621-192776629
47	RAD21	chr1:192776584-192777088	A549	lung:	n/a	n/a
48	POU2F2	chr1:192776517-192776734	GM12878	blood:	n/a	chr1:192776656-192776669 chr1:192776658-192776668 chr1:192776658-192776668 chr1:192776657-192776669 chr1:192776658-192776667
49	CTCF	chr1:192776653-192777098	GM12878	blood:	n/a	chr1:192776835-192776853 chr1:192776804-192776812
50	EP300	chr1:192776375-192776776	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:192776599..192779563-chr1:193090962..193092551,2	K562	blood:
2	chr1:192775702..192778041-chr1:192986871..192988604,2	MCF-7	breast:
3	chr1:192768183..192771831-chr1:192775042..192777243,3	K562	blood:
4	chr1:192775703..192778053-chr1:193028205..193029898,2	MCF-7	breast:
5	chr1:192773238..192775392-chr1:192775635..192777815,2	K562	blood:
6	chr1:192459062..192461935-chr1:192775675..192778515,2	K562	blood:
7	chr1:192774228..192777200-chr1:192803483..192805431,2	MCF-7	breast:
8	chr1:192775766..192777613-chr1:192802344..192805276,2	K562	blood:
9	chr1:192775115..192776767-chr1:192778310..192780018,2	K562	blood:

Variant related genes	Relation type
RGS2	TF binding region
ENSG00000226814	Chromatin interaction
ENSG00000134371	Chromatin interaction
ENSG00000116750	Chromatin interaction
ENSG00000221145	Chromatin interaction
ENSG00000116747	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10489515	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10489517	1.00[EUR][1000 genomes]
rs10921269	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12091442	1.00[EUR][1000 genomes]
rs12093765	1.00[EUR][1000 genomes]
rs12096309	1.00[EUR][1000 genomes]
rs1342808	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16834594	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16834597	1.00[EUR][1000 genomes]
rs16834625	1.00[EUR][1000 genomes]
rs16834852	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[LWK][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16834867	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16834872	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[LWK][hapmap];0.86[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16834876	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2296022	1.00[CEU][hapmap]
rs2296023	1.00[CEU][hapmap]
rs41512544	1.00[EUR][1000 genomes]
rs4658065	1.00[CEU][hapmap]
rs55747130	1.00[EUR][1000 genomes]
rs56031935	1.00[EUR][1000 genomes]
rs57149196	1.00[EUR][1000 genomes]
rs57189481	1.00[EUR][1000 genomes]
rs57630083	1.00[EUR][1000 genomes]
rs57826402	1.00[EUR][1000 genomes]
rs57890252	1.00[EUR][1000 genomes]
rs57963116	1.00[EUR][1000 genomes]
rs60892638	1.00[EUR][1000 genomes]
rs6680350	1.00[EUR][1000 genomes]
rs6683145	1.00[EUR][1000 genomes]
rs6689962	1.00[EUR][1000 genomes]
rs6702235	1.00[EUR][1000 genomes]
rs6702236	1.00[EUR][1000 genomes]
rs73052222	1.00[EUR][1000 genomes]
rs73052226	1.00[EUR][1000 genomes]
rs73060168	1.00[EUR][1000 genomes]
rs73060190	1.00[EUR][1000 genomes]
rs73062239	1.00[EUR][1000 genomes]
rs73062264	1.00[EUR][1000 genomes]
rs73062267	1.00[EUR][1000 genomes]
rs73062271	1.00[EUR][1000 genomes]
rs73062273	1.00[EUR][1000 genomes]
rs73062285	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73062286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73062290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73064112	1.00[EUR][1000 genomes]
rs73064182	1.00[EUR][1000 genomes]
rs73064200	1.00[EUR][1000 genomes]
rs73066132	1.00[EUR][1000 genomes]
rs73068111	1.00[EUR][1000 genomes]
rs73068113	1.00[EUR][1000 genomes]
rs73068116	1.00[EUR][1000 genomes]
rs74130451	1.00[EUR][1000 genomes]
rs74130466	1.00[EUR][1000 genomes]
rs7538953	1.00[EUR][1000 genomes]
rs7552270	1.00[EUR][1000 genomes]
rs7555263	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv548660	chr1:192609268-192945348	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192766200-192777200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:192775200-192776800	Enhancers	Muscle Satellite Cultured Cells	--
3	chr1:192775200-192777200	Enhancers	Hela-S3	cervix
4	chr1:192775400-192777600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr1:192775400-192777800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr1:192775800-192777000	Flanking Active TSS	Duodenum Mucosa	Duodenum
7	chr1:192775800-192777200	Active TSS	Rectal Mucosa Donor 31	rectum
8	chr1:192775800-192777200	Flanking Active TSS	GM12878-XiMat	blood
9	chr1:192775800-192777400	Enhancers	Small Intestine	intestine
10	chr1:192775800-192777400	Active TSS	Stomach Smooth Muscle	stomach
11	chr1:192775800-192777600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
12	chr1:192775800-192777800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
13	chr1:192775800-192778200	Active TSS	Rectal Smooth Muscle	rectum
14	chr1:192776000-192777000	Active TSS	A549	lung
15	chr1:192776000-192777400	Enhancers	HSMM	muscle
16	chr1:192776000-192777600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
17	chr1:192776000-192777800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
18	chr1:192776000-192777800	Flanking Active TSS	HUVEC	blood vessel
19	chr1:192776000-192778800	Active TSS	Colon Smooth Muscle	Colon
20	chr1:192776200-192776800	Active TSS	Brain Substantia Nigra	brain
21	chr1:192776200-192776800	Flanking Active TSS	NHLF	lung
22	chr1:192776200-192777000	Active TSS	Brain Angular Gyrus	brain
23	chr1:192776200-192777200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
24	chr1:192776200-192777200	Active TSS	Right Atrium	heart
25	chr1:192776200-192777600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:192776200-192777600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
27	chr1:192776200-192777600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
28	chr1:192776200-192777600	Flanking Active TSS	Fetal Lung	lung
29	chr1:192776200-192777600	Flanking Active TSS	NHEK	skin
30	chr1:192776200-192777800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr1:192776200-192777800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr1:192776200-192777800	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr1:192776200-192780600	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr1:192776400-192776800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr1:192776400-192776800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr1:192776400-192776800	Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr1:192776400-192776800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr1:192776400-192776800	Active TSS	NHDF-Ad	bronchial
39	chr1:192776400-192777000	Flanking Active TSS	Brain Anterior Caudate	brain
40	chr1:192776400-192777000	Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr1:192776400-192777000	Enhancers	HSMMtube	muscle
42	chr1:192776400-192777200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:192776400-192777200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr1:192776400-192777200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr1:192776400-192777200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr1:192776400-192777200	Enhancers	Fetal Intestine Large	intestine
47	chr1:192776400-192777200	Enhancers	Fetal Intestine Small	intestine
48	chr1:192776400-192777200	Enhancers	Fetal Muscle Leg	muscle
49	chr1:192776400-192777400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr1:192776400-192777400	Enhancers	HMEC	breast

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