Variant report

Variant	rs555474730
Chromosome Location	chr5:74809639-74809640
allele	A/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	EBF1	chr5:74809635-74809751	GM12878	blood:	n/a	n/a
2	BHLHE40	chr5:74809603-74810369	GM12878	blood:	n/a	n/a
3	ZNF384	chr5:74809462-74810094	GM12878	blood:	n/a	n/a
4	NFIC	chr5:74809262-74810004	GM12878	blood:	n/a	chr5:74809626-74809642 chr5:74809626-74809643
5	CUX1	chr5:74808958-74809712	GM12878	blood:	n/a	n/a
6	EP300	chr5:74809520-74810065	GM12878	blood:	n/a	chr5:74809850-74809864 chr5:74809833-74809847
7	TBL1XR1	chr5:74809636-74809836	K562	blood:	n/a	n/a
8	MXI1	chr5:74809538-74810099	GM12878	blood:	n/a	chr5:74809908-74809923

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:74808217..74810593-chr5:74816041..74817596,2	K562	blood:
2	chr5:74808667..74810597-chr5:74818060..74820048,3	K562	blood:

Variant related genes	Relation type
COL4A3BP	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882193	chr5:74656175-74917862	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv882194	chr5:74656175-74946455	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv882195	chr5:74678937-74896798	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv882196	chr5:74678937-74917862	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv882197	chr5:74692776-74946455	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv882198	chr5:74736065-74896798	Strong transcription Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv882199	chr5:74757758-74946455	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv882200	chr5:74781439-74830808	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
10	nsv882201	chr5:74787310-74890618	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
11	nsv882202	chr5:74808417-74946455	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74804600-74809800	Active TSS	NHLF	lung
2	chr5:74805000-74810200	Active TSS	GM12878-XiMat	blood
3	chr5:74807400-74809800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:74808000-74809800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:74808000-74809800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr5:74808000-74809800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr5:74808000-74814600	Weak transcription	Gastric	stomach
8	chr5:74808200-74809800	Flanking Active TSS	Dnd41	blood
9	chr5:74808200-74814600	Weak transcription	Left Ventricle	heart
10	chr5:74808200-74814600	Weak transcription	Pancreas	Pancrea
11	chr5:74808200-74814800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr5:74808200-74817600	Weak transcription	Esophagus	oesophagus
13	chr5:74808400-74809800	Enhancers	Fetal Heart	heart
14	chr5:74808400-74810000	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr5:74808400-74810000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr5:74808400-74812000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr5:74808400-74812000	Enhancers	Primary B cells from cord blood	blood
18	chr5:74808400-74812400	Enhancers	Primary B cells from peripheral blood	blood
19	chr5:74808600-74809800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:74808600-74809800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr5:74808600-74809800	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr5:74808600-74809800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr5:74808600-74810000	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr5:74808600-74810000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr5:74808600-74810200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr5:74808600-74810400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr5:74808600-74814600	Weak transcription	Right Ventricle	heart
28	chr5:74808600-74817600	Weak transcription	Thymus	Thymus
29	chr5:74808600-74819000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr5:74808800-74809800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr5:74808800-74809800	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr5:74808800-74809800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr5:74808800-74809800	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr5:74808800-74809800	Enhancers	Brain Substantia Nigra	brain
35	chr5:74808800-74810600	Enhancers	Duodenum Mucosa	Duodenum
36	chr5:74808800-74814400	Weak transcription	Fetal Muscle Trunk	muscle
37	chr5:74808800-74814600	Weak transcription	Lung	lung
38	chr5:74808800-74816200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr5:74808800-74816200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr5:74808800-74817600	Weak transcription	Aorta	Aorta
41	chr5:74808800-74817600	Weak transcription	Fetal Thymus	thymus
42	chr5:74808800-74817800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr5:74808800-74849600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr5:74809000-74809800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr5:74809000-74809800	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr5:74809000-74810400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:74809000-74810400	Enhancers	Hela-S3	cervix
48	chr5:74809000-74810400	Enhancers	HepG2	liver
49	chr5:74809000-74811600	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr5:74809000-74812000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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