Variant report

Variant	rs13357845
Chromosome Location	chr5:43040723-43040724
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	RAD21	chr5:43040316-43040823	HepG2	liver:	n/a	n/a
2	USF1	chr5:43040302-43041223	A549	lung:	n/a	n/a
3	POLR2A	chr5:43040189-43040779	GM12892	blood:	n/a	n/a
4	SP1	chr5:43040305-43040850	H1-hESC	embryonic stem cell:	n/a	n/a
5	PML	chr5:43039608-43043658	K562	blood:	n/a	n/a
6	EP300	chr5:43040081-43042206	GM12878	blood:	n/a	chr5:43041260-43041274 chr5:43042181-43042190 chr5:43042183-43042192 chr5:43041356-43041370 chr5:43042178-43042187 chr5:43042180-43042189
7	E2F6	chr5:43040408-43041038	K562	blood:	n/a	chr5:43040624-43040635 chr5:43040623-43040632 chr5:43040624-43040635 chr5:43040621-43040638 chr5:43040619-43040634 chr5:43040625-43040640 chr5:43040624-43040635 chr5:43040624-43040635 chr5:43040624-43040631 chr5:43040620-43040634 chr5:43040621-43040638 chr5:43040624-43040635
8	REST	chr5:43040404-43040817	A549	lung:	n/a	n/a
9	TCF7L2	chr5:43039506-43041200	HCT-116	colon:	n/a	n/a
10	POLR2A	chr5:43040129-43043584	Hela-S3	cervix:	n/a	n/a
11	NFIC	chr5:43039379-43040920	SK-N-SH	brain:	n/a	n/a
12	TAF1	chr5:43040320-43041226	Hela-S3	cervix:	n/a	n/a
13	REST	chr5:43039455-43041346	HL-60	blood:	n/a	chr5:43041060-43041068
14	MXI1	chr5:43040439-43041174	HepG2	liver:	n/a	n/a
15	POLR2A	chr5:43039510-43043640	K562	blood:	n/a	n/a
16	MTA3	chr5:43039726-43041182	GM12878	blood:	n/a	n/a
17	POLR2A	chr5:43039532-43043686	PBDE	blood:	n/a	n/a
18	RAD21	chr5:43039449-43040941	HCT-116	colon:	n/a	n/a
19	MAZ	chr5:43040594-43040825	HepG2	liver:	n/a	n/a
20	ATF1	chr5:43039959-43041139	K562	blood:	n/a	n/a
21	ZNF143	chr5:43039499-43041184	K562	blood:	n/a	n/a
22	CTCF	chr5:43040323-43040753	K562	blood:	n/a	n/a
23	RAD21	chr5:43039410-43040842	HCT-116	colon:	n/a	n/a
24	POLR2A	chr5:43040437-43041187	HepG2	liver:	n/a	n/a
25	TBP	chr5:43039536-43043625	K562	blood:	n/a	n/a
26	YY1	chr5:43040324-43040723	GM12878	blood:	n/a	chr5:43040368-43040378 chr5:43040367-43040376
27	FOS	chr5:43040054-43040753	HUVEC	blood vessel:	n/a	n/a
28	HEY1	chr5:43039506-43041259	K562	blood:	n/a	n/a
29	E2F6	chr5:43039978-43041262	A549	lung:	n/a	chr5:43040624-43040635 chr5:43040623-43040632 chr5:43040624-43040635 chr5:43040621-43040638 chr5:43040619-43040634 chr5:43040625-43040640 chr5:43040624-43040635 chr5:43040624-43040635 chr5:43040624-43040631 chr5:43040620-43040634 chr5:43040621-43040638 chr5:43040624-43040635
30	ZNF384	chr5:43040064-43040793	K562	blood:	n/a	n/a
31	KAP1	chr5:43039522-43040761	U2OS	brain:	n/a	n/a
32	CEBPB	chr5:43039972-43040762	IMR90	lung:	n/a	chr5:43040604-43040615 chr5:43040137-43040148
33	MXI1	chr5:43040389-43043029	K562	blood:	n/a	n/a
34	STAT1	chr5:43039520-43043515	Hela-S3	cervix:	n/a	chr5:43040479-43040488 chr5:43040473-43040493 chr5:43040476-43040490 chr5:43042111-43042122 chr5:43040478-43040487 chr5:43040479-43040487 chr5:43040477-43040488 chr5:43040473-43040493 chr5:43040377-43040388
35	RAD21	chr5:43039510-43041187	IMR90	lung:	n/a	n/a
36	E2F6	chr5:43040384-43040779	K562	blood:	n/a	chr5:43040624-43040635 chr5:43040623-43040632 chr5:43040624-43040635 chr5:43040621-43040638 chr5:43040619-43040634 chr5:43040625-43040640 chr5:43040624-43040635 chr5:43040624-43040635 chr5:43040624-43040631 chr5:43040620-43040634 chr5:43040621-43040638 chr5:43040624-43040635
37	YY1	chr5:43040373-43040746	K562	blood:	n/a	n/a
38	ZMIZ1	chr5:43039810-43041248	K562	blood:	n/a	n/a
39	POLR2A	chr5:43039438-43040815	U87	brain:	n/a	n/a
40	E2F1	chr5:43040029-43041243	Hela-S3	cervix:	n/a	chr5:43040624-43040635 chr5:43040623-43040632 chr5:43040624-43040635 chr5:43040621-43040638 chr5:43040619-43040634 chr5:43040625-43040640 chr5:43040624-43040635 chr5:43040624-43040635 chr5:43040624-43040631 chr5:43040620-43040634 chr5:43040621-43040638 chr5:43040624-43040635
41	EBF1	chr5:43039584-43041531	GM12878	blood:	n/a	n/a
42	CEBPB	chr5:43039989-43040748	HepG2	liver:	n/a	chr5:43040604-43040615 chr5:43040137-43040148
43	CEBPB	chr5:43039612-43041058	A549	lung:	n/a	chr5:43040604-43040615 chr5:43040137-43040148
44	MAX	chr5:43039470-43041206	K562	blood:	n/a	n/a
45	CTCF	chr5:43040458-43040725	GM13977	blood:	n/a	n/a
46	HA-E2F1	chr5:43040364-43041248	Hela-S3	cervix:	n/a	chr5:43040624-43040635 chr5:43040623-43040632 chr5:43040624-43040635 chr5:43040621-43040638 chr5:43040619-43040634 chr5:43040625-43040640 chr5:43040624-43040635 chr5:43040624-43040635 chr5:43040624-43040631 chr5:43040620-43040634 chr5:43040621-43040638 chr5:43040624-43040635
47	NR2F2	chr5:43039783-43040795	K562	blood:	n/a	n/a
48	RUNX3	chr5:43039421-43041218	GM12878	blood:	n/a	n/a
49	CTCF	chr5:43040447-43040746	GM10266	blood:	n/a	n/a
50	CTCF	chr5:43039223-43043731	A549	lung:	n/a	chr5:43041427-43041435

No.	Distal block	Cell Line	Cell type
1	chr5:43005892..43011349-chr5:43037590..43043804,20	K562	blood:
2	chr5:43016477..43018565-chr5:43040554..43042623,2	K562	blood:
3	chr5:42984356..42986139-chr5:43039157..43041117,2	K562	blood:
4	chr5:43016691..43021968-chr5:43036071..43044426,17	MCF-7	breast:
5	chr5:43014739..43026335-chr5:43034830..43045515,33	MCF-7	breast:
6	chr5:43034726..43053192-chr5:43061725..43074206,66	K562	blood:
7	chr5:42907581..42909848-chr5:43040254..43042169,2	K562	blood:
8	chr5:43039238..43041150-chr5:43514128..43516342,2	K562	blood:
9	chr3:49199767..49200734-chr5:43040560..43041196,2	Hela-S3	cervix:
10	chr5:43007434..43008423-chr5:43040689..43041515,2	Hela-S3	cervix:
11	chr5:42994823..42995633-chr5:43040288..43041131,4	K562	blood:
12	chr4:7069592..7070165-chr5:43040513..43041058,2	Hela-S3	cervix:
13	chr5:43036901..43050217-chr5:43060442..43069391,53	MCF-7	breast:
14	chr5:43040123..43044169-chr5:43120216..43122879,6	K562	blood:
15	chr5:43037720..43044659-chr5:43062293..43069444,31	K562	blood:
16	chr5:42912467..42913002-chr5:43040456..43041065,2	K562	blood:
17	chr5:43038662..43048059-chr5:43059399..43070773,40	MCF-7	breast:
18	chr5:43040130..43041272-chr5:43105506..43106483,5	K562	blood:
19	chr5:43019312..43019883-chr5:43040206..43041197,3	Hela-S3	cervix:
20	chr5:42993139..42993641-chr5:43040150..43041114,2	K562	blood:
21	chr5:43038312..43041170-chr5:43074041..43076906,4	K562	blood:
22	chr5:43005322..43013124-chr5:43037748..43043287,15	K562	blood:
23	chr5:43040708..43045055-chr5:43119670..43122847,6	K562	blood:
24	chr5:43007330..43009530-chr5:43039640..43043303,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000215068	TF binding region
ENSG00000272144	Chromatin interaction
ENSG00000271788	Chromatin interaction
ENSG00000251131	Chromatin interaction
ENSG00000251656	Chromatin interaction
ENSG00000172262	Chromatin interaction
ENSG00000172244	Chromatin interaction
ENSG00000248240	Chromatin interaction
ENSG00000109519	Chromatin interaction
ENSG00000177738	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10045186	0.91[GIH][hapmap]
rs10051990	0.84[EUR][1000 genomes]
rs10052644	0.84[EUR][1000 genomes]
rs10054331	0.84[EUR][1000 genomes]
rs10056788	0.91[GIH][hapmap]
rs10057416	0.96[EUR][1000 genomes]
rs10071791	0.83[AFR][1000 genomes]
rs10077219	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1122510	0.89[AFR][1000 genomes]
rs12110284	1.00[CEU][hapmap]
rs13357786	0.84[EUR][1000 genomes]
rs16872890	1.00[CEU][hapmap]
rs2085140	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs28490330	1.00[EUR][1000 genomes]
rs28520523	0.87[EUR][1000 genomes]
rs28609175	1.00[EUR][1000 genomes]
rs28628732	0.87[AFR][1000 genomes]
rs309946	1.00[CEU][hapmap]
rs56962140	0.88[EUR][1000 genomes]
rs585302	1.00[CEU][hapmap];0.83[LWK][hapmap];0.90[TSI][hapmap];0.93[YRI][hapmap];0.96[EUR][1000 genomes]
rs58980582	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs60859843	0.88[EUR][1000 genomes]
rs6451664	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs6451666	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs673855	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6858989	0.84[EUR][1000 genomes]
rs6859319	0.88[EUR][1000 genomes]
rs6867229	0.91[GIH][hapmap]
rs6867941	0.88[EUR][1000 genomes]
rs6869034	1.00[CEU][hapmap]
rs6886261	0.88[EUR][1000 genomes]
rs6886503	0.89[AFR][1000 genomes]
rs6887169	0.91[GIH][hapmap]
rs6890021	0.88[EUR][1000 genomes]
rs6895961	1.00[CEU][hapmap];0.83[GIH][hapmap];0.90[TSI][hapmap];0.88[EUR][1000 genomes]
rs6898323	1.00[CEU][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.83[YRI][hapmap];0.88[EUR][1000 genomes]
rs73090747	0.88[EUR][1000 genomes]
rs7701546	0.91[GIH][hapmap]
rs7709521	0.94[AFR][1000 genomes]
rs7720810	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs7721545	1.00[CEU][hapmap]
rs7725727	0.88[EUR][1000 genomes]
rs7728625	0.80[EUR][1000 genomes]
rs7730865	0.88[EUR][1000 genomes]
rs7735821	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9292865	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs936071	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
2	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
3	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
4	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
5	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
6	nsv534185	chr5:42804840-43067088	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	165 gene(s)	inside rSNPs	diseases
7	nsv1029288	chr5:42928085-43047323	Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	120 gene(s)	inside rSNPs	diseases
8	nsv968169	chr5:42956713-43043472	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	116 gene(s)	inside rSNPs	diseases
9	nsv1024636	chr5:42959979-43295782	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
10	nsv537739	chr5:42959979-43295782	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43036800-43043800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr5:43037000-43042200	Bivalent/Poised TSS	Brain Anterior Caudate	brain
3	chr5:43037200-43042400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
4	chr5:43037200-43042800	Active TSS	Right Ventricle	heart
5	chr5:43037400-43043000	Active TSS	HSMM	muscle
6	chr5:43037400-43045000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr5:43037800-43042400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr5:43037800-43042800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr5:43037800-43042800	Active TSS	Primary T killer memory cells from peripheral blood	blood
10	chr5:43037800-43043400	Active TSS	Right Atrium	heart
11	chr5:43038000-43040800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
12	chr5:43038000-43042600	Active TSS	Dnd41	blood
13	chr5:43038000-43043600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
14	chr5:43038200-43041800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
15	chr5:43038200-43042800	Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr5:43038600-43041400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
17	chr5:43038600-43042600	Active TSS	Primary T helper naive cells from peripheral blood	blood
18	chr5:43038800-43043600	Active TSS	A549	lung
19	chr5:43039000-43041400	Active TSS	Primary B cells from peripheral blood	blood
20	chr5:43039000-43041400	Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr5:43039000-43042800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
22	chr5:43039000-43042800	Active TSS	GM12878-XiMat	blood
23	chr5:43039000-43042800	Active TSS	Monocytes-CD14+_RO01746	blood
24	chr5:43039000-43043600	Active TSS	Psoas Muscle	Psoas
25	chr5:43039000-43043800	Active TSS	Thymus	Thymus
26	chr5:43039000-43043800	Active TSS	NHDF-Ad	bronchial
27	chr5:43039200-43041600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr5:43039200-43042600	Active TSS	K562	blood
29	chr5:43039400-43041000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
30	chr5:43039400-43041800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr5:43039400-43043000	Active TSS	HSMMtube	muscle
32	chr5:43039400-43043600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
33	chr5:43039400-43043600	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
34	chr5:43039400-43043800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:43039400-43044800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr5:43039600-43041200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
37	chr5:43039600-43041200	ZNF genes & repeats	Pancreas	Pancrea
38	chr5:43039600-43041200	Active TSS	Spleen	Spleen
39	chr5:43039600-43041200	ZNF genes & repeats	HMEC	breast
40	chr5:43039600-43041800	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
41	chr5:43039600-43042000	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr5:43039600-43042400	Flanking Active TSS	Primary hematopoietic stem cells	blood
43	chr5:43039600-43043400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
44	chr5:43039600-43043400	Bivalent/Poised TSS	Brain Angular Gyrus	brain
45	chr5:43039600-43043600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr5:43039600-43043600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
47	chr5:43039600-43043800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
48	chr5:43039800-43040800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr5:43039800-43040800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
50	chr5:43039800-43040800	Flanking Active TSS	Hela-S3	cervix

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