Variant report

Variant	rs529101040
Chromosome Location	chr5:177539928-177539929
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	RCOR1	chr5:177539580-177541670	K562	blood:	n/a	n/a
2	CEBPB	chr5:177539845-177540182	K562	blood:	n/a	n/a
3	PML	chr5:177539853-177540840	GM12878	blood:	n/a	n/a
4	RCOR1	chr5:177539802-177540741	GM12878	blood:	n/a	n/a
5	RUNX3	chr5:177539922-177540765	GM12878	blood:	n/a	n/a
6	JUND	chr5:177539582-177541064	K562	blood:	n/a	chr5:177540360-177540374 chr5:177540517-177540529 chr5:177540523-177540537 chr5:177540466-177540475 chr5:177540519-177540527 chr5:177540902-177540913 chr5:177540517-177540528 chr5:177539680-177539691 chr5:177540515-177540526
7	ZC3H11A	chr5:177539622-177540725	K562	blood:	n/a	n/a
8	EP300	chr5:177539737-177541108	K562	blood:	n/a	chr5:177540706-177540722
9	FOS	chr5:177539622-177540069	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr5:177539618-177540748	HUVEC	blood vessel:	n/a	chr5:177540360-177540374 chr5:177540517-177540529 chr5:177540523-177540537 chr5:177540466-177540475 chr5:177540519-177540527 chr5:177540517-177540528 chr5:177540517-177540528 chr5:177540515-177540526
11	JUND	chr5:177539425-177540053	SK-N-SH	brain:	n/a	chr5:177539680-177539691
12	EGR1	chr5:177539872-177542111	MCF-7	breast:	n/a	chr5:177540256-177540269 chr5:177540482-177540492 chr5:177540912-177540925 chr5:177540465-177540475 chr5:177540915-177540924 chr5:177540464-177540474 chr5:177541203-177541213
13	KAP1	chr5:177539223-177540569	HEK293	kidney:	n/a	n/a
14	ZNF217	chr5:177538973-177540183	MCF-7	breast:	n/a	n/a
15	TBL1XR1	chr5:177539746-177540724	K562	blood:	n/a	n/a
16	TBP	chr5:177539802-177540707	GM12878	blood:	n/a	n/a
17	FOS	chr5:177539617-177540034	MCF10A-Er-Src	breast:	n/a	n/a
18	ZMIZ1	chr5:177539927-177540806	K562	blood:	n/a	n/a
19	MAX	chr5:177539901-177540949	A549	lung:	n/a	chr5:177540283-177540292
20	RCOR1	chr5:177539563-177539967	IMR90	lung:	n/a	n/a
21	SETDB1	chr5:177539497-177540012	U2OS	brain:	n/a	n/a
22	CBX3	chr5:177539528-177540793	K562	blood:	n/a	n/a
23	SIN3AK20	chr5:177539640-177544207	MCF-7	breast:	n/a	n/a
24	E2F6	chr5:177539920-177540898	H1-hESC	embryonic stem cell:	n/a	chr5:177540465-177540474 chr5:177540629-177540639 chr5:177540639-177540648
25	SIN3AK20	chr5:177539622-177544714	MCF-7	breast:	n/a	n/a
26	E2F6	chr5:177539921-177540822	A549	lung:	n/a	chr5:177540465-177540474 chr5:177540629-177540639 chr5:177540639-177540648
27	TAF1	chr5:177539601-177543325	MCF-7	breast:	n/a	n/a
28	HDAC2	chr5:177539530-177542937	MCF-7	breast:	n/a	chr5:177541051-177541070
29	EP300	chr5:177538692-177540796	SK-N-SH	brain:	n/a	chr5:177540706-177540722
30	NR2F2	chr5:177539572-177544053	MCF-7	breast:	n/a	n/a
31	HA-E2F1	chr5:177539831-177541378	MCF-7	breast:	n/a	chr5:177541203-177541212 chr5:177540465-177540474 chr5:177540629-177540639 chr5:177540639-177540648
32	ELF1	chr5:177539814-177543974	MCF-7	breast:	n/a	chr5:177540374-177540386 chr5:177541142-177541154 chr5:177540737-177540749 chr5:177540480-177540492 chr5:177543771-177543784
33	MAX	chr5:177539484-177544483	MCF-7	breast:	n/a	chr5:177541698-177541714 chr5:177540283-177540292 chr5:177543360-177543370
34	PML	chr5:177539878-177542987	MCF-7	breast:	n/a	chr5:177541677-177541685
35	CEBPB	chr5:177539823-177540682	H1-hESC	embryonic stem cell:	n/a	n/a
36	MAZ	chr5:177539731-177544918	GM12878	blood:	n/a	chr5:177541698-177541714 chr5:177540283-177540292 chr5:177543360-177543370
37	TCF12	chr5:177539767-177542071	MCF-7	breast:	n/a	chr5:177541824-177541834 chr5:177540927-177540934 chr5:177541839-177541847 chr5:177540942-177540949
38	SP1	chr5:177539898-177541262	HCT-116	colon:	n/a	chr5:177540822-177540836 chr5:177540464-177540474 chr5:177540464-177540473 chr5:177541135-177541149 chr5:177540825-177540837 chr5:177541134-177541146 chr5:177540827-177540836 chr5:177541202-177541216 chr5:177540910-177540922 chr5:177541202-177541211 chr5:177541201-177541213 chr5:177540464-177540478 chr5:177540911-177540920 chr5:177541202-177541211 chr5:177540280-177540290 chr5:177541134-177541146 chr5:177540825-177540837 chr5:177540832-177540841 chr5:177540464-177540474 chr5:177540910-177540922 chr5:177541203-177541212 chr5:177540538-177540549 chr5:177540463-177540475 chr5:177540578-177540589 chr5:177540465-177540474 chr5:177540463-177540475 chr5:177540826-177540836 chr5:177540464-177540473 chr5:177541136-177541145 chr5:177541202-177541212 chr5:177541202-177541212 chr5:177540912-177540921 chr5:177540816-177540825 chr5:177541201-177541213
39	RFX5	chr5:177538620-177540122	SK-N-SH	brain:	n/a	n/a
40	SIN3A	chr5:177539672-177543882	H1-hESC	embryonic stem cell:	n/a	chr5:177543363-177543374 chr5:177540639-177540650 chr5:177541144-177541157 chr5:177541146-177541157
41	JUND	chr5:177539454-177542600	MCF-7	breast:	n/a	chr5:177540360-177540374 chr5:177540517-177540529 chr5:177541709-177541720 chr5:177540523-177540537 chr5:177540466-177540475 chr5:177540519-177540527 chr5:177541204-177541213 chr5:177540902-177540913 chr5:177540517-177540528 chr5:177539680-177539691 chr5:177540515-177540526

No.	Distal block	Cell Line	Cell type
1	chr5:177539043..177545979-chr5:177577141..177584026,12	K562	blood:
2	chr5:177538337..177541901-chr5:177630904..177633261,3	K562	blood:
3	chr11:62607697..62609963-chr5:177539195..177541814,2	MCF-7	breast:
4	chr5:177539791..177542194-chr5:177578689..177582162,4	K562	blood:
5	chr5:177018435..177020960-chr5:177539226..177540753,2	MCF-7	breast:

Variant related genes	Relation type
N4BP3	TF binding region
ENSG00000145912	Chromatin interaction
ENSG00000197451	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000184840	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030383	chr5:177310325-177571254	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv883186	chr5:177376317-177549491	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	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
4	nsv1021198	chr5:177386267-177611648	Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv600391	chr5:177488281-177549491	Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	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
7	nsv462567	chr5:177505021-177572927	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS 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	23 gene(s)	inside rSNPs	diseases
8	nsv471058	chr5:177505021-177572927	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv600392	chr5:177505021-177572927	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	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
11	nsv883190	chr5:177532201-177620189	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
12	nsv883191	chr5:177535370-177551985	Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
13	nsv883192	chr5:177535370-177564346	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
14	esv3443720	chr5:177539696-177541944	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177536000-177540000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:177536000-177540000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:177536000-177540000	Weak transcription	Colonic Mucosa	Colon
4	chr5:177536200-177540000	Weak transcription	Right Ventricle	heart
5	chr5:177536400-177540000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:177536400-177540000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr5:177536400-177540000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr5:177536400-177540000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr5:177536400-177540000	Weak transcription	NHEK	skin
10	chr5:177536400-177540200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr5:177536400-177540200	Weak transcription	Gastric	stomach
12	chr5:177536600-177540000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr5:177536600-177540000	Weak transcription	HMEC	breast
14	chr5:177536600-177540200	Weak transcription	Esophagus	oesophagus
15	chr5:177536600-177540200	Weak transcription	Lung	lung
16	chr5:177538600-177540000	Enhancers	Placenta	Placenta
17	chr5:177538800-177540000	Enhancers	Hela-S3	cervix
18	chr5:177539600-177540000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
19	chr5:177539600-177540000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:177539600-177540000	Weak transcription	Adipose Nuclei	Adipose
21	chr5:177539600-177541400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
22	chr5:177539800-177540000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr5:177539800-177540000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:177539800-177540000	Enhancers	Primary T cells fromperipheralblood	blood
25	chr5:177539800-177540000	Enhancers	Primary hematopoietic stem cells	blood
26	chr5:177539800-177540000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr5:177539800-177540000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr5:177539800-177540000	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr5:177539800-177540000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr5:177539800-177540000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr5:177539800-177540000	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr5:177539800-177540000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr5:177539800-177540200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
34	chr5:177539800-177540200	Flanking Active TSS	Fetal Heart	heart
35	chr5:177539800-177540200	Active TSS	Right Atrium	heart
36	chr5:177539800-177540200	Flanking Active TSS	K562	blood
37	chr5:177539800-177540400	Flanking Active TSS	Primary B cells from peripheral blood	blood
38	chr5:177539800-177540400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr5:177539800-177540400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr5:177539800-177540400	Flanking Active TSS	GM12878-XiMat	blood
41	chr5:177539800-177541000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr5:177539800-177541000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr5:177539800-177541000	Bivalent/Poised TSS	Fetal Brain Female	brain
44	chr5:177539800-177541200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr5:177539800-177541400	Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr5:177539800-177541600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr5:177539800-177541600	Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr5:177539800-177541800	Active TSS	H1 Cell Line	embryonic stem cell
49	chr5:177539800-177541800	Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr5:177539800-177541800	Active TSS	iPS-15b Cell Line	embryonic stem cell

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