Variant report

Variant	rs200501337
Chromosome Location	chr5:74808605-74808606
allele	-/AAGA
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	POLR2A	chr5:74806410-74808835	GM18505	blood:	n/a	n/a
2	CBX3	chr5:74808454-74808929	K562	blood:	n/a	n/a
3	RCOR1	chr5:74807275-74808845	K562	blood:	n/a	n/a
4	POLR2A	chr5:74807206-74808916	GM12891	blood:	n/a	n/a
5	MTA3	chr5:74806454-74808806	GM12878	blood:	n/a	n/a
6	SREBP1	chr5:74807187-74809330	GM12878	blood:	n/a	n/a
7	HCFC1	chr5:74805817-74808663	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:74806025..74808781-chr5:74906137..74908952,2	MCF-7	breast:
2	chr5:74808217..74810593-chr5:74816041..74817596,2	K562	blood:

Variant related genes	Relation type
COL4A3BP	TF binding region
ENSG00000189045	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 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
12	esv2098878	chr5:74808602-74808606	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74804000-74809000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:74804600-74809800	Active TSS	NHLF	lung
3	chr5:74804800-74809600	Active TSS	K562	blood
4	chr5:74805000-74810200	Active TSS	GM12878-XiMat	blood
5	chr5:74805200-74809000	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr5:74805200-74809000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr5:74805200-74809000	Active TSS	NHDF-Ad	bronchial
8	chr5:74805200-74809400	Active TSS	Right Atrium	heart
9	chr5:74805400-74809000	Active TSS	Ovary	ovary
10	chr5:74805400-74809200	Active TSS	HSMM	muscle
11	chr5:74805400-74809400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr5:74805600-74808800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:74805600-74808800	Active TSS	Aorta	Aorta
14	chr5:74805800-74808800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:74805800-74808800	Active TSS	Stomach Smooth Muscle	stomach
16	chr5:74805800-74809000	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr5:74806000-74808800	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr5:74806000-74809000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:74807200-74809600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr5:74807400-74808800	Active TSS	Brain Germinal Matrix	brain
21	chr5:74807400-74809800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr5:74808000-74808800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr5:74808000-74809200	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr5:74808000-74809800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr5:74808000-74809800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr5:74808000-74809800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr5:74808000-74814600	Weak transcription	Gastric	stomach
28	chr5:74808200-74808800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr5:74808200-74808800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
30	chr5:74808200-74808800	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr5:74808200-74808800	Flanking Active TSS	Fetal Brain Female	brain
32	chr5:74808200-74808800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
33	chr5:74808200-74808800	Active TSS	HepG2	liver
34	chr5:74808200-74808800	Flanking Active TSS	HUVEC	blood vessel
35	chr5:74808200-74808800	Flanking Active TSS	NH-A	brain
36	chr5:74808200-74809000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
37	chr5:74808200-74809200	Flanking Active TSS	Fetal Lung	lung
38	chr5:74808200-74809400	Flanking Active TSS	Brain Hippocampus Middle	brain
39	chr5:74808200-74809800	Flanking Active TSS	Dnd41	blood
40	chr5:74808200-74814600	Weak transcription	Left Ventricle	heart
41	chr5:74808200-74814600	Weak transcription	Pancreas	Pancrea
42	chr5:74808200-74814800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr5:74808200-74817600	Weak transcription	Esophagus	oesophagus
44	chr5:74808400-74808800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr5:74808400-74808800	Flanking Active TSS	Brain Angular Gyrus	brain
46	chr5:74808400-74808800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
47	chr5:74808400-74808800	Flanking Active TSS	Brain Substantia Nigra	brain
48	chr5:74808400-74808800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr5:74808400-74809000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr5:74808400-74809000	Enhancers	Primary T cells fromperipheralblood	blood

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