Variant report

Variant	rs375451706
Chromosome Location	chr5:177658968-177658969
allele	-/A
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	SMC3	chr5:177658943-177660149	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr5:177658951-177660123	K562	blood:	n/a	n/a
3	MXI1	chr5:177658286-177660241	Hela-S3	cervix:	n/a	n/a
4	MAX	chr5:177658757-177659980	K562	blood:	n/a	n/a
5	POLR2A	chr5:177658603-177660497	GM12878	blood:	n/a	n/a
6	CEBPB	chr5:177658050-177659845	Hela-S3	cervix:	n/a	chr5:177658233-177658246
7	MAFK	chr5:177658659-177659022	Hela-S3	cervix:	n/a	n/a
8	ELF1	chr5:177658701-177660260	MCF-7	breast:	n/a	n/a
9	POLR2A	chr5:177658872-177660281	GM18951	blood:	n/a	n/a
10	POLR2A	chr5:177658787-177660212	GM12878	blood:	n/a	n/a
11	MAX	chr5:177658743-177660056	NB4	blood:	n/a	n/a
12	ZBTB7A	chr5:177658878-177659415	K562	blood:	n/a	n/a
13	POLR2A	chr5:177658800-177660334	MCF10A-Er-Src	breast:	n/a	n/a
14	ZNF263	chr5:177656888-177659341	HEK293-T-REx	kidney:	n/a	n/a
15	HEY1	chr5:177658938-177659981	K562	blood:	n/a	n/a
16	MAX	chr5:177658204-177660356	HepG2	liver:	n/a	chr5:177658594-177658604 chr5:177658621-177658631
17	MAX	chr5:177658605-177659994	ECC-1	luminal epithelium:	n/a	chr5:177658621-177658631
18	MYC	chr5:177658834-177659113	HepG2	liver:	n/a	n/a
19	POLR2A	chr5:177658156-177660670	GM18505	blood:	n/a	n/a
20	CREB1	chr5:177658724-177660160	HepG2	liver:	n/a	n/a
21	SMARCB1	chr5:177658048-177660271	Hela-S3	cervix:	n/a	n/a
22	CTCF	chr5:177658840-177658990	GM12867	blood:	n/a	n/a
23	POLR2A	chr5:177658760-177659863	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr5:177658828-177660078	PFSK-1	brain:	n/a	n/a
25	CBX3	chr5:177658924-177659313	K562	blood:	n/a	n/a
26	MYC	chr5:177658693-177660071	NB4	blood:	n/a	n/a
27	MYC	chr5:177658719-177659977	MCF10A-Er-Src	breast:	n/a	n/a
28	E2F6	chr5:177658075-177660218	K562	blood:	n/a	n/a
29	POLR2A	chr5:177656552-177660493	HepG2	liver:	n/a	n/a
30	MAX	chr5:177658020-177660034	K562	blood:	n/a	chr5:177658594-177658604 chr5:177658621-177658631
31	MXI1	chr5:177657839-177660102	GM12878	blood:	n/a	n/a
32	MAX	chr5:177658579-177660014	ECC-1	luminal epithelium:	n/a	chr5:177658594-177658604 chr5:177658621-177658631
33	MAX	chr5:177658709-177659911	A549	lung:	n/a	n/a
34	POLR2A	chr5:177658790-177660157	GM12878	blood:	n/a	n/a
35	TAF1	chr5:177658954-177660033	ECC-1	luminal epithelium:	n/a	n/a
36	RCOR1	chr5:177658640-177660074	Hela-S3	cervix:	n/a	n/a
37	PML	chr5:177658940-177660212	GM12878	blood:	n/a	chr5:177659940-177659948
38	TBL1XR1	chr5:177658896-177659217	K562	blood:	n/a	n/a
39	POLR2A	chr5:177658021-177660213	GM15510	blood:	n/a	n/a
40	POLR2A	chr5:177658948-177660359	GM19193	blood:	n/a	n/a
41	MAX	chr5:177658572-177659981	MCF-7	breast:	n/a	chr5:177658594-177658604 chr5:177658621-177658631
42	MAX	chr5:177658228-177660219	A549	lung:	n/a	chr5:177658594-177658604 chr5:177658621-177658631
43	MAX	chr5:177657888-177660092	MCF-7	breast:	n/a	chr5:177658594-177658604 chr5:177658621-177658631
44	CTCF	chr5:177658820-177658970	GM06990	blood:	n/a	n/a
45	POLR2A	chr5:177658083-177660606	K562	blood:	n/a	n/a
46	POLR2A	chr5:177657949-177660401	K562	blood:	n/a	n/a
47	POLR2A	chr5:177658770-177660246	GM12892	blood:	n/a	n/a
48	POLR2A	chr5:177658812-177660172	ECC-1	luminal epithelium:	n/a	n/a
49	EBF1	chr5:177658711-177659113	GM12878	blood:	n/a	chr5:177658838-177658849
50	HMGN3	chr5:177658968-177660075	K562	blood:	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	chr5:177657400-177659200	Flanking Active TSS	Adipose Nuclei	Adipose
2	chr5:177657400-177659200	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
3	chr5:177657600-177659000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
4	chr5:177657600-177659000	Flanking Active TSS	Liver	Liver
5	chr5:177657600-177659400	Transcr. at gene 5' and 3'	Dnd41	blood
6	chr5:177657800-177659000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:177657800-177659000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
8	chr5:177657800-177659200	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
9	chr5:177657800-177659200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr5:177658000-177659000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
11	chr5:177658000-177659000	Flanking Active TSS	Brain Hippocampus Middle	brain
12	chr5:177658000-177659000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr5:177658000-177659200	Flanking Active TSS	Fetal Brain Male	brain
14	chr5:177658000-177659200	Flanking Active TSS	HUVEC	blood vessel
15	chr5:177658000-177659200	Flanking Active TSS	NH-A	brain
16	chr5:177658000-177659400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
17	chr5:177658200-177659000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr5:177658200-177659000	Flanking Active TSS	Brain Anterior Caudate	brain
19	chr5:177658200-177659000	Flanking Active TSS	Left Ventricle	heart
20	chr5:177658200-177659000	Flanking Active TSS	Stomach Mucosa	stomach
21	chr5:177658200-177659200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
22	chr5:177658200-177659200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
23	chr5:177658200-177659200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr5:177658200-177659200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr5:177658200-177659200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr5:177658200-177659200	Flanking Active TSS	Colonic Mucosa	Colon
27	chr5:177658200-177659200	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
28	chr5:177658200-177659800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr5:177658200-177660000	Flanking Active TSS	HMEC	breast
30	chr5:177658400-177659000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr5:177658400-177659000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr5:177658400-177659000	Flanking Active TSS	Primary T cells from cord blood	blood
33	chr5:177658400-177659000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
34	chr5:177658400-177659000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr5:177658400-177659000	Flanking Active TSS	Brain Cingulate Gyrus	brain
36	chr5:177658400-177659000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
37	chr5:177658400-177659000	Flanking Active TSS	Duodenum Mucosa	Duodenum
38	chr5:177658400-177659000	Flanking Active TSS	Esophagus	oesophagus
39	chr5:177658400-177659000	Flanking Active TSS	Gastric	stomach
40	chr5:177658400-177659000	Flanking Active TSS	Pancreas	Pancrea
41	chr5:177658400-177659000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
42	chr5:177658400-177659000	Transcr. at gene 5' and 3'	Thymus	Thymus
43	chr5:177658400-177659000	Flanking Active TSS	K562	blood
44	chr5:177658400-177659200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr5:177658400-177659200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
46	chr5:177658400-177659200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
47	chr5:177658400-177659200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr5:177658400-177659200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr5:177658400-177659200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr5:177658400-177659200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum

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