Variant report

Variant	rs538846750
Chromosome Location	chr4:48912135-48912136
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	EP300	chr4:48911339-48912316	SK-N-SH	brain:	n/a	n/a
2	JUND	chr4:48911386-48912332	SK-N-SH	brain:	n/a	chr4:48911851-48911860 chr4:48911850-48911861
3	MYC	chr4:48911623-48912147	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr4:48911568-48912159	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr4:48911509-48912165	U87	brain:	n/a	n/a
6	RXRA	chr4:48911379-48912285	SK-N-SH	brain:	n/a	chr4:48911627-48911638
7	FOSL2	chr4:48911457-48912260	SK-N-SH	brain:	n/a	chr4:48911851-48911860
8	RAD21	chr4:48911536-48912144	SK-N-SH_RA	brain:	n/a	n/a
9	JUND	chr4:48911526-48912231	HCT-116	colon:	n/a	chr4:48911851-48911860 chr4:48911850-48911861
10	JUND	chr4:48911458-48912232	SK-N-SH	brain:	n/a	chr4:48911851-48911860 chr4:48911850-48911861
11	CBX3	chr4:48911527-48912230	HCT-116	colon:	n/a	n/a
12	SP1	chr4:48911621-48912137	A549	lung:	n/a	n/a
13	MYC	chr4:48911670-48912137	MCF10A-Er-Src	breast:	n/a	n/a
14	MAX	chr4:48911566-48912225	SK-N-SH	brain:	n/a	n/a
15	GATA3	chr4:48911371-48912311	SK-N-SH	brain:	n/a	chr4:48911477-48911498 chr4:48911850-48911859
16	FOSL1	chr4:48911546-48912204	HCT-116	colon:	n/a	chr4:48911851-48911860 chr4:48911850-48911861
17	NFIC	chr4:48911300-48912179	SK-N-SH	brain:	n/a	n/a
18	PBX3	chr4:48911432-48912193	SK-N-SH	brain:	n/a	n/a
19	TCF12	chr4:48911412-48912316	SK-N-SH	brain:	n/a	n/a
20	MXI1	chr4:48911615-48912170	IMR90	lung:	n/a	n/a
21	FOSL1	chr4:48911490-48912155	HCT-116	colon:	n/a	chr4:48911851-48911860 chr4:48911850-48911861
22	POLR2A	chr4:48911587-48912154	U87	brain:	n/a	n/a
23	SP1	chr4:48911484-48912267	HCT-116	colon:	n/a	n/a
24	JUND	chr4:48911387-48912225	SK-N-SH	brain:	n/a	chr4:48911851-48911860 chr4:48911850-48911861
25	POLR2A	chr4:48911587-48912155	U87	brain:	n/a	n/a
26	FOS	chr4:48911562-48912184	HUVEC	blood vessel:	n/a	chr4:48911851-48911860 chr4:48911850-48911861
27	SP1	chr4:48911441-48912280	HCT-116	colon:	n/a	n/a
28	GATA3	chr4:48911315-48912297	SK-N-SH	brain:	n/a	chr4:48911477-48911498 chr4:48911850-48911859
29	MAX	chr4:48911534-48912268	HCT-116	colon:	n/a	n/a
30	FOS	chr4:48911586-48912146	MCF10A-Er-Src	breast:	n/a	chr4:48911851-48911860 chr4:48911850-48911861
31	FOSL2	chr4:48911575-48912151	A549	lung:	n/a	chr4:48911851-48911860
32	MAX	chr4:48911548-48912274	HCT-116	colon:	n/a	n/a
33	MAX	chr4:48911644-48912216	A549	lung:	n/a	n/a
34	MAX	chr4:48911449-48912223	SK-N-SH	brain:	n/a	n/a
35	MAX	chr4:48911530-48912216	A549	lung:	n/a	n/a
36	NFIC	chr4:48911531-48912140	SK-N-SH	brain:	n/a	n/a
37	FOSL2	chr4:48911537-48912199	SK-N-SH	brain:	n/a	chr4:48911851-48911860
38	POLR2A	chr4:48911515-48912159	U87	brain:	n/a	n/a
39	RCOR1	chr4:48911486-48912263	IMR90	lung:	n/a	n/a
40	TEAD4	chr4:48911491-48912236	SK-N-SH	brain:	n/a	n/a
41	PBX3	chr4:48911346-48912166	SK-N-SH	brain:	n/a	n/a
42	TCF12	chr4:48911319-48912358	SK-N-SH	brain:	n/a	n/a
43	JUND	chr4:48911471-48912298	HCT-116	colon:	n/a	chr4:48911851-48911860 chr4:48911850-48911861
44	JUN	chr4:48911417-48912259	K562	blood:	n/a	chr4:48911851-48911860

Variant related genes	Relation type
OCIAD2	TF binding region

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:34 , 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	chr4:48910000-48913400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:48910400-48913000	Enhancers	NHEK	skin
7	chr4:48910600-48914600	Weak transcription	Esophagus	oesophagus
8	chr4:48910800-48912200	Enhancers	HMEC	breast
9	chr4:48911000-48912200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr4:48911000-48912200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr4:48911000-48912200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr4:48911000-48912200	Enhancers	NHDF-Ad	bronchial
13	chr4:48911000-48912200	Enhancers	Osteobl	bone
14	chr4:48911000-48912400	Enhancers	HUVEC	blood vessel
15	chr4:48911000-48912800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr4:48911200-48912200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:48911200-48912200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:48911200-48912200	Enhancers	Muscle Satellite Cultured Cells	--
19	chr4:48911200-48912200	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr4:48911200-48912200	Enhancers	HSMMtube	muscle
21	chr4:48911200-48912800	Enhancers	A549	lung
22	chr4:48911200-48913000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr4:48911200-48913000	Enhancers	Stomach Mucosa	stomach
24	chr4:48911400-48912200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr4:48911600-48912200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr4:48911600-48912200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:48911600-48912200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr4:48911600-48915400	Weak transcription	NHLF	lung
29	chr4:48911800-48914600	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr4:48911800-48914600	Weak transcription	NH-A	brain
31	chr4:48911800-48914800	Weak transcription	HSMM	muscle
32	chr4:48911800-48915200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr4:48911800-48916200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr4:48912000-48912400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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