Variant report

Variant	rs77856529
Chromosome Location	chr5:74680231-74680232
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	GATA3	chr5:74679790-74680721	SK-N-SH	brain:	n/a	n/a
2	GATA3	chr5:74680083-74680419	SH-SY5Y	brain:	n/a	n/a
3	TCF12	chr5:74679940-74680627	SK-N-SH	brain:	n/a	n/a
4	PBX3	chr5:74680080-74680475	SK-N-SH	brain:	n/a	n/a
5	FOSL2	chr5:74680016-74680501	SK-N-SH	brain:	n/a	n/a
6	PBX3	chr5:74679979-74680605	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr5:74680154-74680435	SK-N-SH	brain:	n/a	n/a
8	TCF12	chr5:74680006-74680558	SK-N-SH	brain:	n/a	n/a
9	JUND	chr5:74680009-74680565	SK-N-SH	brain:	n/a	n/a
10	GATA3	chr5:74680023-74680472	MCF-7	breast:	n/a	n/a
11	TEAD4	chr5:74680054-74680639	SK-N-SH	brain:	n/a	n/a
12	EP300	chr5:74679960-74680604	SK-N-SH	brain:	n/a	n/a
13	GATA3	chr5:74679702-74680804	SK-N-SH	brain:	n/a	n/a
14	JUND	chr5:74680081-74680673	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
COL4A3BP	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882192	chr5:74641707-74707762	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74656400-74687200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:74656400-74725600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr5:74656600-74694800	Weak transcription	Brain Angular Gyrus	brain
4	chr5:74656800-74731400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr5:74657800-74708000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr5:74659800-74684800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr5:74659800-74720600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr5:74660000-74722800	Weak transcription	Fetal Heart	heart
9	chr5:74660200-74707800	Weak transcription	Stomach Mucosa	stomach
10	chr5:74661800-74683600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr5:74665000-74703000	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr5:74667000-74723200	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr5:74667200-74688200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr5:74667200-74693600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:74667600-74687600	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr5:74668000-74688400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:74668200-74686200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:74668400-74685600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:74668600-74681600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr5:74668600-74686800	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr5:74668600-74687200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:74668600-74687600	Strong transcription	Adipose Nuclei	Adipose
23	chr5:74668600-74687600	Strong transcription	Fetal Lung	lung
24	chr5:74668600-74691200	Strong transcription	Liver	Liver
25	chr5:74668800-74685800	Strong transcription	Primary B cells from peripheral blood	blood
26	chr5:74669600-74681400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr5:74670800-74709400	Weak transcription	Pancreas	Pancrea
28	chr5:74670800-74720600	Weak transcription	Right Ventricle	heart
29	chr5:74670800-74731400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr5:74671000-74686000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr5:74671000-74722800	Weak transcription	Hela-S3	cervix
32	chr5:74671600-74686000	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr5:74671800-74684200	Strong transcription	Primary hematopoietic stem cells	blood
34	chr5:74672000-74682000	Strong transcription	Primary B cells from cord blood	blood
35	chr5:74672200-74687000	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr5:74673000-74682400	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr5:74673200-74682600	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr5:74673200-74685200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr5:74673200-74685800	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr5:74673200-74685800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr5:74673200-74685800	Strong transcription	Dnd41	blood
42	chr5:74673200-74686000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr5:74673400-74682200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr5:74673400-74685800	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr5:74673400-74686000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr5:74673600-74681400	Strong transcription	Placenta	Placenta
47	chr5:74673600-74681600	Strong transcription	Duodenum Mucosa	Duodenum
48	chr5:74674400-74688000	Weak transcription	NHEK	skin
49	chr5:74674400-74761400	Weak transcription	Esophagus	oesophagus
50	chr5:74674800-74680600	Strong transcription	HMEC	breast

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