Variant report

Variant	rs77920396
Chromosome Location	chr4:48911976-48911977
allele	C/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	CTCF	chr4:48911880-48912030	AG04449	skin:	n/a	n/a
2	FOS	chr4:48911587-48912114	MCF10A-Er-Src	breast:	n/a	chr4:48911851-48911860 chr4:48911850-48911861
3	EP300	chr4:48911339-48912316	SK-N-SH	brain:	n/a	n/a
4	CTCF	chr4:48911900-48912050	HMEC	breast:	n/a	n/a
5	GATA2	chr4:48911665-48912023	HUVEC	blood vessel:	n/a	chr4:48911850-48911859
6	RAD21	chr4:48911645-48912071	IMR90	lung:	n/a	n/a
7	FOS	chr4:48911635-48912119	MCF10A-Er-Src	breast:	n/a	chr4:48911851-48911860 chr4:48911850-48911861
8	EP300	chr4:48911516-48912057	SK-N-SH_RA	brain:	n/a	n/a
9	POLR2A	chr4:48911513-48912115	HUVEC	blood vessel:	n/a	n/a
10	MAFK	chr4:48911716-48912018	Hela-S3	cervix:	n/a	n/a
11	CHD2	chr4:48911700-48912018	Hela-S3	cervix:	n/a	n/a
12	JUND	chr4:48911386-48912332	SK-N-SH	brain:	n/a	chr4:48911851-48911860 chr4:48911850-48911861
13	MXI1	chr4:48911711-48912081	Hela-S3	cervix:	n/a	n/a
14	STAT3	chr4:48911753-48912025	MCF10A-Er-Src	breast:	n/a	chr4:48911851-48911860
15	ZNF143	chr4:48911734-48912044	Hela-S3	cervix:	n/a	n/a
16	MYC	chr4:48911623-48912147	MCF10A-Er-Src	breast:	n/a	n/a
17	CEBPB	chr4:48911726-48912067	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr4:48911568-48912159	SK-N-SH	brain:	n/a	n/a
19	POLR2A	chr4:48911509-48912165	U87	brain:	n/a	n/a
20	CTCF	chr4:48911960-48912110	RPTEC	kidney:	n/a	n/a
21	RXRA	chr4:48911379-48912285	SK-N-SH	brain:	n/a	chr4:48911627-48911638
22	FOSL2	chr4:48911734-48911993	HepG2	liver:	n/a	chr4:48911851-48911860
23	CEBPB	chr4:48911607-48912112	IMR90	lung:	n/a	n/a
24	STAT3	chr4:48911677-48912071	MCF10A-Er-Src	breast:	n/a	chr4:48911851-48911860
25	USF2	chr4:48911793-48912098	Hela-S3	cervix:	n/a	n/a
26	UBTF	chr4:48911660-48912040	K562	blood:	n/a	n/a
27	CTCF	chr4:48911902-48912066	Hela-S3	cervix:	n/a	n/a
28	STAT3	chr4:48911677-48912082	MCF10A-Er-Src	breast:	n/a	chr4:48911851-48911860
29	FOSL2	chr4:48911457-48912260	SK-N-SH	brain:	n/a	chr4:48911851-48911860
30	CBX3	chr4:48911680-48912106	K562	blood:	n/a	n/a
31	CTCF	chr4:48911880-48912030	HPAF	blood vessel:	n/a	n/a
32	RAD21	chr4:48911536-48912144	SK-N-SH_RA	brain:	n/a	n/a
33	MAFK	chr4:48911743-48912018	K562	blood:	n/a	n/a
34	SIN3AK20	chr4:48911640-48912053	SK-N-SH	brain:	n/a	n/a
35	ZKSCAN1	chr4:48911726-48912059	Hela-S3	cervix:	n/a	n/a
36	YY1	chr4:48911699-48912031	HCT-116	colon:	n/a	n/a
37	JUND	chr4:48911526-48912231	HCT-116	colon:	n/a	chr4:48911851-48911860 chr4:48911850-48911861
38	TCF7L2	chr4:48911649-48912070	HCT-116	colon:	n/a	chr4:48911851-48911860
39	JUND	chr4:48911458-48912232	SK-N-SH	brain:	n/a	chr4:48911851-48911860 chr4:48911850-48911861
40	CBX3	chr4:48911527-48912230	HCT-116	colon:	n/a	n/a
41	RAD21	chr4:48911626-48912105	Hela-S3	cervix:	n/a	n/a
42	SP1	chr4:48911621-48912137	A549	lung:	n/a	n/a
43	MYC	chr4:48911670-48912137	MCF10A-Er-Src	breast:	n/a	n/a
44	MAX	chr4:48911566-48912225	SK-N-SH	brain:	n/a	n/a
45	FOSL1	chr4:48911731-48911995	K562	blood:	n/a	chr4:48911851-48911860 chr4:48911850-48911861
46	GATA3	chr4:48911371-48912311	SK-N-SH	brain:	n/a	chr4:48911477-48911498 chr4:48911850-48911859
47	FOSL1	chr4:48911546-48912204	HCT-116	colon:	n/a	chr4:48911851-48911860 chr4:48911850-48911861
48	NFIC	chr4:48911300-48912179	SK-N-SH	brain:	n/a	n/a
49	RCOR1	chr4:48911757-48912024	K562	blood:	n/a	n/a
50	TCF7L2	chr4:48911677-48912064	Hela-S3	cervix:	n/a	chr4:48911851-48911860

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:48907689..48909984-chr4:48910157..48911988,2	MCF-7	breast:

Variant related genes	Relation type
OCIAD2	TF binding region
ENSG00000145247	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002674	chr4:48507608-49032909	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv537087	chr4:48507608-49032909	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1010923	chr4:48575156-49083089	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv537088	chr4:48575156-49083089	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv1013762	chr4:48580484-49032909	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv537089	chr4:48580484-49032909	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv1010381	chr4:48701525-49309842	Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv1003718	chr4:48771947-49083089	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv916809	chr4:48784318-49083302	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	nsv1011910	chr4:48784332-49154757	ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv879010	chr4:48794403-49061141	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	nsv1008733	chr4:48827603-48971172	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	nsv427680	chr4:48829607-49660117	ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
14	esv3465247	chr4:48911194-48912201	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv3465248	chr4:48911194-48912201	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48909200-48914800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:48909200-48916200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr4:48909400-48914600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr4:48909400-48917200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr4:48909800-48912000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:48910000-48913400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:48910400-48913000	Enhancers	NHEK	skin
8	chr4:48910600-48914600	Weak transcription	Esophagus	oesophagus
9	chr4:48910800-48912200	Enhancers	HMEC	breast
10	chr4:48911000-48912200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr4:48911000-48912200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr4:48911000-48912200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr4:48911000-48912200	Enhancers	NHDF-Ad	bronchial
14	chr4:48911000-48912200	Enhancers	Osteobl	bone
15	chr4:48911000-48912400	Enhancers	HUVEC	blood vessel
16	chr4:48911000-48912800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr4:48911200-48912200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr4:48911200-48912200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr4:48911200-48912200	Enhancers	Muscle Satellite Cultured Cells	--
20	chr4:48911200-48912200	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr4:48911200-48912200	Enhancers	HSMMtube	muscle
22	chr4:48911200-48912800	Enhancers	A549	lung
23	chr4:48911200-48913000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr4:48911200-48913000	Enhancers	Stomach Mucosa	stomach
25	chr4:48911400-48912000	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr4:48911400-48912200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr4:48911600-48912000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr4:48911600-48912200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr4:48911600-48912200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:48911600-48912200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr4:48911600-48915400	Weak transcription	NHLF	lung
32	chr4:48911800-48914600	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr4:48911800-48914600	Weak transcription	NH-A	brain
34	chr4:48911800-48914800	Weak transcription	HSMM	muscle
35	chr4:48911800-48915200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr4:48911800-48916200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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