Variant report

Variant	rs73062286
Chromosome Location	chr1:192777155-192777156
allele	A/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	POLR2A	chr1:192776886-192778449	HUVEC	blood vessel:	n/a	n/a
2	MAX	chr1:192777140-192778716	K562	blood:	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
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	NR2F2	chr1:192777013-192778566	K562	blood:	n/a	chr1:192778435-192778450
6	POLR2A	chr1:192777127-192778871	Hela-S3	cervix:	n/a	n/a
7	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
8	MAX	chr1:192777088-192778407	SK-N-SH	brain:	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
9	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
10	POLR2A	chr1:192776209-192783463	IMR90	lung:	n/a	n/a
11	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
12	POLR2A	chr1:192777081-192779607	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr1:192777128-192779184	Hela-S3	cervix:	n/a	n/a
14	BHLHE40	chr1:192777144-192778643	K562	blood:	n/a	chr1:192778021-192778037 chr1:192778035-192778051 chr1:192778033-192778049
15	POLR2A	chr1:192776512-192778631	HUVEC	blood vessel:	n/a	n/a
16	POLR2A	chr1:192777104-192779053	H1-hESC	embryonic stem cell:	n/a	n/a
17	EP300	chr1:192776769-192777338	SK-N-SH_RA	brain:	n/a	chr1:192776884-192776893 chr1:192777174-192777183 chr1:192777173-192777182
18	POLR2A	chr1:192775823-192784756	MCF10A-Er-Src	breast:	n/a	n/a
19	TAL1	chr1:192777150-192777371	K562	blood:	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	POLR2A	chr1:192777147-192778627	Hela-S3	cervix:	n/a	n/a
23	STAT3	chr1:192776345-192777421	MCF10A-Er-Src	breast:	n/a	chr1:192777173-192777182 chr1:192776876-192776883 chr1:192777174-192777183
24	STAT3	chr1:192776565-192777291	MCF10A-Er-Src	breast:	n/a	chr1:192777173-192777182 chr1:192776876-192776883 chr1:192777174-192777183
25	EP300	chr1:192776779-192777384	SK-N-SH_RA	brain:	n/a	chr1:192776884-192776893 chr1:192777174-192777183 chr1:192777173-192777182
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	MXI1	chr1:192776973-192778825	Hela-S3	cervix:	n/a	chr1:192777343-192777352
28	SP1	chr1:192776985-192778603	A549	lung:	n/a	chr1:192778097-192778106 chr1:192778118-192778130 chr1:192778095-192778106 chr1:192777483-192777492 chr1:192778120-192778129 chr1:192778119-192778128 chr1:192778119-192778133 chr1:192778118-192778130 chr1:192778119-192778128 chr1:192778119-192778129 chr1:192778119-192778129
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	MAX	chr1:192777058-192778629	HCT-116	colon:	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
32	POLR2A	chr1:192776841-192780151	Hela-S3	cervix:	n/a	n/a
33	MXI1	chr1:192776887-192779307	SK-N-SH	brain:	n/a	chr1:192777343-192777352
34	CHD1	chr1:192776053-192782472	IMR90	lung:	n/a	n/a
35	POLR2A	chr1:192775981-192784209	MCF10A-Er-Src	breast:	n/a	n/a
36	RCOR1	chr1:192777070-192778923	K562	blood:	n/a	n/a
37	E2F6	chr1:192777133-192778610	A549	lung:	n/a	chr1:192778120-192778129 chr1:192778331-192778343
38	MAX	chr1:192777044-192778594	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
39	HDAC2	chr1:192777059-192777460	K562	blood:	n/a	n/a
40	SMC3	chr1:192776676-192778780	Hela-S3	cervix:	n/a	n/a
41	STAT3	chr1:192776249-192777423	MCF10A-Er-Src	breast:	n/a	chr1:192777173-192777182 chr1:192776876-192776883 chr1:192777174-192777183
42	GATA2	chr1:192777026-192777492	HUVEC	blood vessel:	n/a	chr1:192777172-192777181
43	RAD21	chr1:192776659-192777538	Hela-S3	cervix:	n/a	n/a
44	MXI1	chr1:192776009-192779800	IMR90	lung:	n/a	chr1:192777343-192777352
45	TBP	chr1:192777005-192777480	Hela-S3	cervix:	n/a	n/a
46	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
47	POLR2A	chr1:192776805-192777314	SK-N-SH	brain:	n/a	n/a
48	MAZ	chr1:192776852-192778787	IMR90	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
49	JUND	chr1:192777095-192777338	HepG2	liver:	n/a	chr1:192777174-192777181 chr1:192777173-192777182 chr1:192777172-192777183 chr1:192777174-192777182
50	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

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:

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

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10489515	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10489517	1.00[EUR][1000 genomes]
rs10921269	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]
rs1418719	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16834594	1.00[EUR][1000 genomes]
rs16834597	1.00[EUR][1000 genomes]
rs16834625	1.00[EUR][1000 genomes]
rs16834852	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	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16834876	1.00[EUR][1000 genomes]
rs41512544	1.00[EUR][1000 genomes]
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]
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:96 , 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	chr1:192775200-192777200	Enhancers	Hela-S3	cervix
3	chr1:192775400-192777600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr1:192775400-192777800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr1:192775800-192777200	Active TSS	Rectal Mucosa Donor 31	rectum
6	chr1:192775800-192777200	Flanking Active TSS	GM12878-XiMat	blood
7	chr1:192775800-192777400	Enhancers	Small Intestine	intestine
8	chr1:192775800-192777400	Active TSS	Stomach Smooth Muscle	stomach
9	chr1:192775800-192777600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
10	chr1:192775800-192777800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
11	chr1:192775800-192778200	Active TSS	Rectal Smooth Muscle	rectum
12	chr1:192776000-192777400	Enhancers	HSMM	muscle
13	chr1:192776000-192777600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
14	chr1:192776000-192777800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr1:192776000-192777800	Flanking Active TSS	HUVEC	blood vessel
16	chr1:192776000-192778800	Active TSS	Colon Smooth Muscle	Colon
17	chr1:192776200-192777200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
18	chr1:192776200-192777200	Active TSS	Right Atrium	heart
19	chr1:192776200-192777600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:192776200-192777600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
21	chr1:192776200-192777600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
22	chr1:192776200-192777600	Flanking Active TSS	Fetal Lung	lung
23	chr1:192776200-192777600	Flanking Active TSS	NHEK	skin
24	chr1:192776200-192777800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr1:192776200-192777800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:192776200-192777800	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr1:192776200-192780600	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr1:192776400-192777200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:192776400-192777200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr1:192776400-192777200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:192776400-192777200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:192776400-192777200	Enhancers	Fetal Intestine Large	intestine
33	chr1:192776400-192777200	Enhancers	Fetal Intestine Small	intestine
34	chr1:192776400-192777200	Enhancers	Fetal Muscle Leg	muscle
35	chr1:192776400-192777400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr1:192776400-192777400	Enhancers	HMEC	breast
37	chr1:192776400-192777600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:192776400-192777600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr1:192776400-192777800	Flanking Active TSS	Osteobl	bone
40	chr1:192776400-192779400	Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr1:192776400-192779400	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr1:192776400-192779600	Active TSS	Brain Cingulate Gyrus	brain
43	chr1:192776400-192779800	Active TSS	Ovary	ovary
44	chr1:192776400-192779800	Active TSS	Stomach Mucosa	stomach
45	chr1:192776400-192780600	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr1:192776400-192780600	Active TSS	Aorta	Aorta
47	chr1:192776400-192781200	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr1:192776600-192777200	Active TSS	Primary T cells fromperipheralblood	blood
49	chr1:192776600-192777200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr1:192776600-192777200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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