Variant report

Variant	rs79662706
Chromosome Location	chr5:177540087-177540088
allele	G/T
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	PAX5	chr5:177540086-177540770	GM12892	blood:	n/a	chr5:177540110-177540119 chr5:177540259-177540268
3	CEBPB	chr5:177539845-177540182	K562	blood:	n/a	n/a
4	RELA	chr5:177540013-177542731	GM15510	blood:	n/a	chr5:177540530-177540539 chr5:177540530-177540539
5	PML	chr5:177539853-177540840	GM12878	blood:	n/a	n/a
6	RCOR1	chr5:177539802-177540741	GM12878	blood:	n/a	n/a
7	MAX	chr5:177540066-177540822	K562	blood:	n/a	chr5:177540283-177540292
8	MAX	chr5:177539977-177540868	ECC-1	luminal epithelium:	n/a	chr5:177540283-177540292
9	MAX	chr5:177540055-177541040	H1-hESC	embryonic stem cell:	n/a	chr5:177540283-177540292
10	REST	chr5:177539973-177540844	H1-neurons	neurons:	n/a	chr5:177540711-177540721
11	MAX	chr5:177540028-177541206	ECC-1	luminal epithelium:	n/a	chr5:177540283-177540292
12	E2F6	chr5:177540066-177540964	K562	blood:	n/a	chr5:177540465-177540474 chr5:177540629-177540639 chr5:177540639-177540648
13	RUNX3	chr5:177539922-177540765	GM12878	blood:	n/a	n/a
14	POLR2A	chr5:177540084-177541223	ECC-1	luminal epithelium:	n/a	n/a
15	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
16	CTCF	chr5:177540071-177541044	K562	blood:	n/a	n/a
17	ZC3H11A	chr5:177539622-177540725	K562	blood:	n/a	n/a
18	EP300	chr5:177539737-177541108	K562	blood:	n/a	chr5:177540706-177540722
19	TAF1	chr5:177540073-177540785	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr5:177539956-177543941	H1-hESC	embryonic stem cell:	n/a	n/a
21	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
22	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
23	ELF1	chr5:177540086-177540919	GM12878	blood:	n/a	chr5:177540374-177540386 chr5:177540737-177540749 chr5:177540480-177540492
24	KAP1	chr5:177539223-177540569	HEK293	kidney:	n/a	n/a
25	CTCF	chr5:177540060-177540290	MCF-7	breast:	n/a	n/a
26	TBL1XR1	chr5:177539994-177540759	K562	blood:	n/a	n/a
27	HCFC1	chr5:177539980-177540802	K562	blood:	n/a	n/a
28	ZNF217	chr5:177538973-177540183	MCF-7	breast:	n/a	n/a
29	TBL1XR1	chr5:177539746-177540724	K562	blood:	n/a	n/a
30	ELK1	chr5:177540063-177540715	K562	blood:	n/a	n/a
31	E2F6	chr5:177540014-177540834	H1-hESC	embryonic stem cell:	n/a	chr5:177540465-177540474 chr5:177540629-177540639 chr5:177540639-177540648
32	EGR1	chr5:177540071-177540835	K562	blood:	n/a	chr5:177540256-177540269 chr5:177540482-177540492 chr5:177540465-177540475 chr5:177540464-177540474
33	RELA	chr5:177540058-177540728	GM19099	blood:	n/a	chr5:177540530-177540539 chr5:177540530-177540539
34	MAX	chr5:177540026-177542248	GM12878	blood:	n/a	chr5:177541698-177541714 chr5:177540283-177540292
35	CREB1	chr5:177540058-177540835	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr5:177540080-177540230	A549	lung:	n/a	n/a
37	TBP	chr5:177539802-177540707	GM12878	blood:	n/a	n/a
38	RELA	chr5:177539982-177540991	GM19193	blood:	n/a	chr5:177540530-177540539 chr5:177540530-177540539
39	CTCF	chr5:177540084-177540810	GM12878	blood:	n/a	n/a
40	ZMIZ1	chr5:177539927-177540806	K562	blood:	n/a	n/a
41	MAX	chr5:177539901-177540949	A549	lung:	n/a	chr5:177540283-177540292
42	EGR1	chr5:177540050-177540776	H1-hESC	embryonic stem cell:	n/a	chr5:177540256-177540269 chr5:177540482-177540492 chr5:177540465-177540475 chr5:177540464-177540474
43	BHLHE40	chr5:177540026-177540827	GM12878	blood:	n/a	chr5:177540630-177540646
44	ZBTB7A	chr5:177539991-177541551	ECC-1	luminal epithelium:	n/a	n/a
45	RELA	chr5:177539965-177540764	GM12891	blood:	n/a	chr5:177540530-177540539 chr5:177540530-177540539
46	ZBTB7A	chr5:177539996-177540687	ECC-1	luminal epithelium:	n/a	n/a
47	CBX3	chr5:177539528-177540793	K562	blood:	n/a	n/a
48	SIN3AK20	chr5:177539640-177544207	MCF-7	breast:	n/a	n/a
49	ZBTB7A	chr5:177540085-177540797	K562	blood:	n/a	n/a
50	MAZ	chr5:177539989-177541753	K562	blood:	n/a	chr5:177541698-177541714 chr5:177540283-177540292

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
ENSG00000197451	Chromatin interaction
ENSG00000184840	Chromatin interaction
ENSG00000145912	Chromatin interaction
ENSG00000133316	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:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177536400-177540200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:177536400-177540200	Weak transcription	Gastric	stomach
3	chr5:177536600-177540200	Weak transcription	Esophagus	oesophagus
4	chr5:177536600-177540200	Weak transcription	Lung	lung
5	chr5:177539600-177541400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
6	chr5:177539800-177540200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
7	chr5:177539800-177540200	Flanking Active TSS	Fetal Heart	heart
8	chr5:177539800-177540200	Active TSS	Right Atrium	heart
9	chr5:177539800-177540200	Flanking Active TSS	K562	blood
10	chr5:177539800-177540400	Flanking Active TSS	Primary B cells from peripheral blood	blood
11	chr5:177539800-177540400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr5:177539800-177540400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr5:177539800-177540400	Flanking Active TSS	GM12878-XiMat	blood
14	chr5:177539800-177541000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:177539800-177541000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr5:177539800-177541000	Bivalent/Poised TSS	Fetal Brain Female	brain
17	chr5:177539800-177541200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr5:177539800-177541400	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr5:177539800-177541600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:177539800-177541600	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr5:177539800-177541800	Active TSS	H1 Cell Line	embryonic stem cell
22	chr5:177539800-177541800	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr5:177539800-177541800	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr5:177539800-177541800	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr5:177539800-177542000	Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr5:177539800-177542800	Flanking Active TSS	Primary B cells from cord blood	blood
27	chr5:177539800-177543400	Active TSS	H9 Cell Line	embryonic stem cell
28	chr5:177540000-177540200	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr5:177540000-177540200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:177540000-177540200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr5:177540000-177540200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
32	chr5:177540000-177540200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
33	chr5:177540000-177540200	Flanking Active TSS	Primary T cells from cord blood	blood
34	chr5:177540000-177540200	Flanking Active TSS	Primary hematopoietic stem cells	blood
35	chr5:177540000-177540200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr5:177540000-177540200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
37	chr5:177540000-177540200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
38	chr5:177540000-177540200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
39	chr5:177540000-177540200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr5:177540000-177540200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr5:177540000-177540200	Bivalent/Poised TSS	Cortex derived primary cultured neurospheres	brain
42	chr5:177540000-177540200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr5:177540000-177540200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr5:177540000-177540200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
45	chr5:177540000-177540200	Active TSS	Adipose Nuclei	Adipose
46	chr5:177540000-177540200	Active TSS	Colonic Mucosa	Colon
47	chr5:177540000-177540200	Flanking Active TSS	Duodenum Mucosa	Duodenum
48	chr5:177540000-177540200	Bivalent Enhancer	Fetal Intestine Small	intestine
49	chr5:177540000-177540200	Bivalent/Poised TSS	Fetal Kidney	kidney
50	chr5:177540000-177540200	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle

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