Variant report

Variant	rs549912296
Chromosome Location	chr5:177658685-177658686
allele	A/C
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	MXI1	chr5:177658286-177660241	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr5:177658603-177660497	GM12878	blood:	n/a	n/a
3	CEBPB	chr5:177658050-177659845	Hela-S3	cervix:	n/a	chr5:177658233-177658246
4	GTF2F1	chr5:177657986-177658917	Hela-S3	cervix:	n/a	n/a
5	MAFK	chr5:177658659-177659022	Hela-S3	cervix:	n/a	n/a
6	EBF1	chr5:177658638-177658954	GM12878	blood:	n/a	chr5:177658838-177658849
7	POLR2A	chr5:177656872-177658787	K562	blood:	n/a	n/a
8	POLR2A	chr5:177658684-177658742	Hela-S3	cervix:	n/a	n/a
9	ZNF263	chr5:177656888-177659341	HEK293-T-REx	kidney:	n/a	n/a
10	MAX	chr5:177658204-177660356	HepG2	liver:	n/a	chr5:177658594-177658604 chr5:177658621-177658631
11	MAX	chr5:177658605-177659994	ECC-1	luminal epithelium:	n/a	chr5:177658621-177658631
12	POLR2A	chr5:177658156-177660670	GM18505	blood:	n/a	n/a
13	TBL1XR1	chr5:177658451-177658844	GM12878	blood:	n/a	n/a
14	SMARCB1	chr5:177658048-177660271	Hela-S3	cervix:	n/a	n/a
15	E2F6	chr5:177658075-177660218	K562	blood:	n/a	n/a
16	POLR2A	chr5:177656552-177660493	HepG2	liver:	n/a	n/a
17	MAX	chr5:177658020-177660034	K562	blood:	n/a	chr5:177658594-177658604 chr5:177658621-177658631
18	MXI1	chr5:177657839-177660102	GM12878	blood:	n/a	n/a
19	MAX	chr5:177658579-177660014	ECC-1	luminal epithelium:	n/a	chr5:177658594-177658604 chr5:177658621-177658631
20	RCOR1	chr5:177658640-177660074	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr5:177658021-177660213	GM15510	blood:	n/a	n/a
22	MAX	chr5:177658572-177659981	MCF-7	breast:	n/a	chr5:177658594-177658604 chr5:177658621-177658631
23	MAX	chr5:177658228-177660219	A549	lung:	n/a	chr5:177658594-177658604 chr5:177658621-177658631
24	MAX	chr5:177657888-177660092	MCF-7	breast:	n/a	chr5:177658594-177658604 chr5:177658621-177658631
25	POLR2A	chr5:177658083-177660606	K562	blood:	n/a	n/a
26	POLR2A	chr5:177657949-177660401	K562	blood:	n/a	n/a
27	MXI1	chr5:177658407-177659808	K562	blood:	n/a	n/a
28	CEBPB	chr5:177658065-177658752	HepG2	liver:	n/a	chr5:177658233-177658246
29	MAX	chr5:177657880-177660045	K562	blood:	n/a	chr5:177658594-177658604 chr5:177658621-177658631
30	POLR2A	chr5:177657525-177660105	Hela-S3	cervix:	n/a	n/a
31	MAX	chr5:177658648-177659994	H1-hESC	embryonic stem cell:	n/a	n/a
32	MXI1	chr5:177657403-177660266	SK-N-SH	brain:	n/a	n/a
33	MAX	chr5:177658670-177659860	H1-hESC	embryonic stem cell:	n/a	n/a
34	MAX	chr5:177658679-177660002	HepG2	liver:	n/a	n/a
35	JUN	chr5:177657564-177660508	K562	blood:	n/a	chr5:177658623-177658632
36	MAX	chr5:177658215-177660155	HepG2	liver:	n/a	chr5:177658594-177658604 chr5:177658621-177658631
37	SMARCC1	chr5:177658076-177660275	Hela-S3	cervix:	n/a	n/a
38	MAX	chr5:177658649-177660100	GM12878	blood:	n/a	n/a
39	SIN3A	chr5:177658659-177660040	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr5:177658204-177660166	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr5:177658001-177660350	HL-60	blood:	n/a	n/a
42	POLR2A	chr5:177658260-177660137	K562	blood:	n/a	n/a
43	MAZ	chr5:177658653-177660207	IMR90	lung:	n/a	n/a
44	RELA	chr5:177658657-177660259	GM15510	blood:	n/a	n/a
45	POLR2A	chr5:177657897-177660434	HL-60	blood:	n/a	n/a
46	MAX	chr5:177658585-177660071	A549	lung:	n/a	chr5:177658594-177658604 chr5:177658621-177658631
47	CEBPB	chr5:177658040-177658742	IMR90	lung:	n/a	chr5:177658233-177658246
48	POLR2A	chr5:177657839-177660301	SK-N-MC	brain:	n/a	n/a
49	MYC	chr5:177658145-177660041	K562	blood:	n/a	chr5:177658594-177658604 chr5:177658621-177658631
50	POLR2A	chr5:177658046-177660077	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:177019232..177020994-chr5:177656791..177659399,2	K562	blood:

Variant related genes	Relation type
PHYKPL	TF binding region
ENSG00000184840	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948342	chr5:177384542-178168737	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases
2	nsv1029398	chr5:177502106-178070654	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	136 gene(s)	inside rSNPs	diseases
3	nsv1019404	chr5:177507080-177859089	Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	126 gene(s)	inside rSNPs	diseases
4	nsv482872	chr5:177580298-177744381	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	106 gene(s)	inside rSNPs	diseases
5	nsv1021981	chr5:177620372-177825272	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	105 gene(s)	inside rSNPs	diseases
6	nsv537967	chr5:177620372-177825272	Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers 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	105 gene(s)	inside rSNPs	diseases
7	nsv1024689	chr5:177638936-177926244	Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv537968	chr5:177638936-177926244	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
9	nsv1018031	chr5:177655010-177746378	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
10	nsv537969	chr5:177655010-177746378	Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
11	nsv883195	chr5:177655194-177690539	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
12	nsv883196	chr5:177655194-177690978	Transcr. at gene 5' and 3' Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
13	nsv883197	chr5:177655194-177707204	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
14	nsv1025291	chr5:177657927-177756215	Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
15	nsv537970	chr5:177657927-177756215	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
16	esv3441517	chr5:177658571-177661119	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177657400-177658800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
2	chr5:177657400-177659200	Flanking Active TSS	Adipose Nuclei	Adipose
3	chr5:177657400-177659200	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
4	chr5:177657600-177658800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:177657600-177658800	Flanking Active TSS	Hela-S3	cervix
6	chr5:177657600-177659000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
7	chr5:177657600-177659000	Flanking Active TSS	Liver	Liver
8	chr5:177657600-177659400	Transcr. at gene 5' and 3'	Dnd41	blood
9	chr5:177657800-177658800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:177657800-177658800	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
11	chr5:177657800-177658800	Transcr. at gene 5' and 3'	Right Ventricle	heart
12	chr5:177657800-177658800	Flanking Active TSS	HepG2	liver
13	chr5:177657800-177658800	Flanking Active TSS	Osteobl	bone
14	chr5:177657800-177659000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:177657800-177659000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
16	chr5:177657800-177659200	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
17	chr5:177657800-177659200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr5:177658000-177658800	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:177658000-177658800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr5:177658000-177658800	Flanking Active TSS	Colon Smooth Muscle	Colon
21	chr5:177658000-177658800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr5:177658000-177658800	Enhancers	Placenta Amnion	Placenta Amnion
23	chr5:177658000-177658800	Flanking Active TSS	Psoas Muscle	Psoas
24	chr5:177658000-177658800	Flanking Active TSS	HSMMtube	muscle
25	chr5:177658000-177658800	Flanking Active TSS	NHDF-Ad	bronchial
26	chr5:177658000-177659000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
27	chr5:177658000-177659000	Flanking Active TSS	Brain Hippocampus Middle	brain
28	chr5:177658000-177659000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr5:177658000-177659200	Flanking Active TSS	Fetal Brain Male	brain
30	chr5:177658000-177659200	Flanking Active TSS	HUVEC	blood vessel
31	chr5:177658000-177659200	Flanking Active TSS	NH-A	brain
32	chr5:177658000-177659400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
33	chr5:177658200-177658800	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr5:177658200-177658800	Flanking Active TSS	Brain Angular Gyrus	brain
35	chr5:177658200-177658800	Flanking Active TSS	Fetal Brain Female	brain
36	chr5:177658200-177658800	Transcr. at gene 5' and 3'	Fetal Muscle Trunk	muscle
37	chr5:177658200-177658800	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
38	chr5:177658200-177659000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr5:177658200-177659000	Flanking Active TSS	Brain Anterior Caudate	brain
40	chr5:177658200-177659000	Flanking Active TSS	Left Ventricle	heart
41	chr5:177658200-177659000	Flanking Active TSS	Stomach Mucosa	stomach
42	chr5:177658200-177659200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
43	chr5:177658200-177659200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
44	chr5:177658200-177659200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr5:177658200-177659200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr5:177658200-177659200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr5:177658200-177659200	Flanking Active TSS	Colonic Mucosa	Colon
48	chr5:177658200-177659200	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
49	chr5:177658200-177659800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr5:177658200-177660000	Flanking Active TSS	HMEC	breast

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