Variant report

Variant	rs73155546
Chromosome Location	chr4:56813374-56813375
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	TBL1XR1	chr4:56813237-56814428	GM12878	blood:	n/a	n/a
2	POLR2A	chr4:56813222-56814346	NB4	blood:	n/a	n/a
3	ELK1	chr4:56813369-56813946	GM12878	blood:	n/a	n/a
4	POLR2A	chr4:56813166-56814454	GM12892	blood:	n/a	n/a
5	POLR2A	chr4:56813158-56816168	HUVEC	blood vessel:	n/a	n/a
6	SPI1	chr4:56813363-56813940	HL-60	blood:	n/a	n/a
7	POLR2A	chr4:56813218-56814406	GM12891	blood:	n/a	n/a
8	RCOR1	chr4:56813365-56815980	GM12878	blood:	n/a	n/a
9	RELA	chr4:56813238-56816761	GM12891	blood:	n/a	chr4:56814238-56814247 chr4:56814238-56814247
10	MTA3	chr4:56813232-56816058	GM12878	blood:	n/a	n/a
11	POLR2A	chr4:56813128-56814507	GM12878	blood:	n/a	n/a
12	PML	chr4:56813219-56815891	GM12878	blood:	n/a	n/a
13	POLR2A	chr4:56813356-56816455	GM12892	blood:	n/a	n/a
14	ESR1	chr4:56813268-56813539	ECC-1	luminal epithelium:	n/a	n/a
15	POLR2A	chr4:56813317-56816266	IMR90	lung:	n/a	n/a
16	POLR2A	chr4:56813281-56813457	HUVEC	blood vessel:	n/a	n/a
17	CHD1	chr4:56813363-56816295	GM12878	blood:	n/a	chr4:56815368-56815378 chr4:56814858-56814868
18	ESR1	chr4:56813229-56813791	T-47D	breast:	n/a	n/a
19	EP300	chr4:56813276-56813681	T-47D	breast:	n/a	n/a
20	RELA	chr4:56813350-56814478	GM18951	blood:	n/a	chr4:56814238-56814247 chr4:56814238-56814247
21	MYC	chr4:56813276-56813818	NB4	blood:	n/a	n/a
22	ESR1	chr4:56813240-56813754	T-47D	breast:	n/a	n/a
23	POLR2A	chr4:56813123-56816170	HUVEC	blood vessel:	n/a	n/a
24	TBP	chr4:56813352-56815746	GM12878	blood:	n/a	n/a
25	CHD2	chr4:56813364-56815764	GM12878	blood:	n/a	chr4:56815368-56815378 chr4:56814858-56814868
26	RELA	chr4:56813325-56816613	GM10847	blood:	n/a	chr4:56814238-56814247 chr4:56814238-56814247
27	ESR1	chr4:56813307-56813613	ECC-1	luminal epithelium:	n/a	n/a
28	ATF2	chr4:56813229-56814436	GM12878	blood:	n/a	n/a
29	EBF1	chr4:56813338-56815387	GM12878	blood:	n/a	chr4:56814935-56814946
30	POLR2A	chr4:56813118-56814423	GM12892	blood:	n/a	n/a
31	MAX	chr4:56813283-56814065	NB4	blood:	n/a	n/a
32	POU2F2	chr4:56813250-56814057	GM12878	blood:	n/a	n/a
33	MAZ	chr4:56813259-56816748	IMR90	lung:	n/a	n/a
34	POLR2A	chr4:56813263-56816279	GM19099	blood:	n/a	n/a
35	ESR1	chr4:56813255-56813670	ECC-1	luminal epithelium:	n/a	n/a
36	RELA	chr4:56813320-56816350	GM15510	blood:	n/a	chr4:56814238-56814247 chr4:56814238-56814247
37	ESR1	chr4:56813218-56813693	T-47D	breast:	n/a	n/a
38	POLR2A	chr4:56813156-56815885	GM12878	blood:	n/a	n/a
39	RELA	chr4:56813252-56816466	GM19099	blood:	n/a	chr4:56814238-56814247 chr4:56814238-56814247
40	ESR1	chr4:56813232-56813735	T-47D	breast:	n/a	n/a
41	EP300	chr4:56813350-56814360	GM12878	blood:	n/a	n/a
42	ESR1	chr4:56813129-56813765	ECC-1	luminal epithelium:	n/a	n/a
43	ESR1	chr4:56813192-56813778	T-47D	breast:	n/a	n/a
44	CUX1	chr4:56813331-56814144	GM12878	blood:	n/a	n/a
45	POLR2A	chr4:56813240-56816522	GM12878	blood:	n/a	n/a
46	POLR2A	chr4:56813268-56815798	HUVEC	blood vessel:	n/a	n/a
47	POLR2A	chr4:56813224-56816657	GM12891	blood:	n/a	n/a
48	MXI1	chr4:56813312-56815788	GM12878	blood:	n/a	chr4:56815054-56815069 chr4:56815052-56815067
49	IKZF1	chr4:56813361-56814871	GM12878	blood:	n/a	chr4:56814401-56814409
50	EP300	chr4:56813360-56814404	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:56411182..56412770-chr4:56812130..56814893,2	K562	blood:
2	chr4:56411270..56413465-chr4:56811598..56813630,2	K562	blood:
3	chr4:56812961..56814619-chr4:57166848..57168708,2	K562	blood:
4	chr4:56807427..56809711-chr4:56812377..56814575,2	MCF-7	breast:
5	chr4:56812031..56813732-chr4:56817105..56819542,2	K562	blood:

Variant related genes	Relation type
CEP135	TF binding region
ENSG00000272969	Chromatin interaction
ENSG00000134852	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs57886922	1.00[EUR][1000 genomes]
rs58433550	1.00[EUR][1000 genomes]
rs59458672	1.00[EUR][1000 genomes]
rs61112573	1.00[EUR][1000 genomes]
rs61518649	1.00[AFR][1000 genomes]
rs73151561	1.00[EUR][1000 genomes]
rs73151574	1.00[EUR][1000 genomes]
rs73155521	1.00[EUR][1000 genomes]
rs73155527	1.00[EUR][1000 genomes]
rs73155528	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73155551	1.00[EUR][1000 genomes]
rs73155552	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73155554	1.00[EUR][1000 genomes]
rs73155568	1.00[EUR][1000 genomes]
rs73155569	1.00[EUR][1000 genomes]
rs73155582	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73155583	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73155593	1.00[EUR][1000 genomes]
rs73155597	0.87[AFR][1000 genomes];1.00[EUR][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	esv2755990	chr4:56317136-57143037	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv10496	chr4:56336946-56841137	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv1005845	chr4:56522075-56980357	Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	esv3406311	chr4:56580578-56840877	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv427681	chr4:56651921-56908209	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv964348	chr4:56782802-56815653	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56803800-56813400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr4:56805200-56814600	Weak transcription	Spleen	Spleen
3	chr4:56809800-56813800	Weak transcription	A549	lung
4	chr4:56810400-56814600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:56811600-56813400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr4:56811800-56813400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr4:56811800-56813800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr4:56812000-56813400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr4:56812000-56814800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr4:56812200-56814600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr4:56812200-56814800	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr4:56812200-56816200	Active TSS	Lung	lung
13	chr4:56812400-56813400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr4:56812400-56813400	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr4:56812400-56813600	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr4:56812400-56815000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr4:56812600-56813400	Enhancers	Primary T cells fromperipheralblood	blood
18	chr4:56812600-56813400	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr4:56812600-56813400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr4:56812600-56813400	Enhancers	NHLF	lung
21	chr4:56812600-56813600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:56812600-56813600	Flanking Active TSS	Primary B cells from peripheral blood	blood
23	chr4:56812600-56813600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr4:56812600-56813600	Active TSS	Duodenum Mucosa	Duodenum
25	chr4:56812600-56813800	Active TSS	Adipose Nuclei	Adipose
26	chr4:56812600-56814000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
27	chr4:56812600-56814400	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr4:56812600-56816000	Active TSS	Left Ventricle	heart
29	chr4:56812600-56816200	Active TSS	Right Ventricle	heart
30	chr4:56812800-56813600	Active TSS	Fetal Stomach	stomach
31	chr4:56812800-56813800	Enhancers	Placenta	Placenta
32	chr4:56812800-56814400	Active TSS	Stomach Smooth Muscle	stomach
33	chr4:56813000-56813400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr4:56813000-56814400	Active TSS	HUVEC	blood vessel
35	chr4:56813000-56816800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr4:56813200-56813400	Flanking Active TSS	Primary T cells from cord blood	blood
37	chr4:56813200-56813400	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr4:56813200-56813400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr4:56813200-56813400	Enhancers	NHEK	skin
40	chr4:56813200-56813600	Flanking Active TSS	Primary hematopoietic stem cells	blood
41	chr4:56813200-56813600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
42	chr4:56813200-56813600	Flanking Active TSS	GM12878-XiMat	blood
43	chr4:56813200-56813600	Enhancers	Hela-S3	cervix
44	chr4:56813200-56813600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr4:56813200-56813800	Enhancers	Ovary	ovary
46	chr4:56813200-56813800	Enhancers	HSMM	muscle
47	chr4:56813200-56814000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr4:56813200-56814000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr4:56813200-56814000	Flanking Active TSS	NHDF-Ad	bronchial
50	chr4:56813200-56814200	Enhancers	iPS-20b Cell Line	embryonic stem cell

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