Variant report

Variant	rs558632577
Chromosome Location	chr5:79331260-79331261
allele	C/G
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	ZNF143	chr5:79330761-79331391	H1-hESC	embryonic stem cell:	n/a	n/a
2	SIN3A	chr5:79330709-79331446	H1-hESC	embryonic stem cell:	n/a	chr5:79331146-79331157
3	POLR2A	chr5:79331111-79331355	H1-hESC	embryonic stem cell:	n/a	n/a
4	GABPA	chr5:79331120-79331398	H1-hESC	embryonic stem cell:	n/a	n/a
5	RAD21	chr5:79331193-79331552	H1-hESC	embryonic stem cell:	n/a	n/a
6	JUND	chr5:79331107-79331308	H1-hESC	embryonic stem cell:	n/a	n/a
7	TAF1	chr5:79331071-79331558	H1-hESC	embryonic stem cell:	n/a	n/a
8	TBP	chr5:79331243-79331813	H1-hESC	embryonic stem cell:	n/a	n/a
9	YY1	chr5:79331083-79331379	H1-hESC	embryonic stem cell:	n/a	chr5:79331152-79331163
10	HMGN3	chr5:79331220-79331420	K562	blood:	n/a	n/a
11	TAF1	chr5:79331130-79331401	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr5:79331109-79331367	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
TRMT112P2	TF binding region
THBS4	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432748	chr5:79300434-79577760	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv882219	chr5:79320677-79354147	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv882220	chr5:79321439-79335975	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv882221	chr5:79321439-79350726	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Weak transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv882222	chr5:79321439-79354147	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv598743	chr5:79329538-79335267	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
7	esv3423458	chr5:79330021-79332569	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
8	esv3385040	chr5:79330296-79332294	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
9	nsv882223	chr5:79330559-79357117	Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79330200-79332200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr5:79330400-79331400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
3	chr5:79330400-79331600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
4	chr5:79330400-79331600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr5:79330400-79332000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
6	chr5:79330400-79332200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
7	chr5:79330600-79331400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:79330600-79331400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr5:79330600-79331400	Bivalent/Poised TSS	Fetal Brain Female	brain
10	chr5:79330600-79331600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
11	chr5:79330600-79331600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
12	chr5:79330600-79331600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
13	chr5:79330600-79331600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
14	chr5:79330600-79331600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
15	chr5:79330600-79331600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
16	chr5:79330600-79331600	Active TSS	Brain Anterior Caudate	brain
17	chr5:79330600-79331600	Bivalent Enhancer	Fetal Intestine Small	intestine
18	chr5:79330600-79331600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
19	chr5:79330600-79331600	Active TSS	Right Atrium	heart
20	chr5:79330600-79331600	Bivalent/Poised TSS	NH-A	brain
21	chr5:79330600-79331800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr5:79330600-79331800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr5:79330600-79331800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
24	chr5:79330600-79331800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
25	chr5:79330600-79331800	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
26	chr5:79330600-79331800	Bivalent Enhancer	Fetal Heart	heart
27	chr5:79330600-79332000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
28	chr5:79330600-79332000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr5:79330600-79332000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
30	chr5:79330600-79332000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr5:79330600-79332000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
32	chr5:79330600-79332000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
33	chr5:79330600-79332000	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
34	chr5:79330600-79332000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
35	chr5:79330600-79332200	Bivalent/Poised TSS	Adipose Nuclei	Adipose
36	chr5:79330800-79331400	Bivalent/Poised TSS	Colonic Mucosa	Colon
37	chr5:79330800-79331400	Enhancers	Gastric	stomach
38	chr5:79330800-79331400	Bivalent/Poised TSS	Thymus	Thymus
39	chr5:79330800-79331600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:79330800-79331600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr5:79330800-79331600	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr5:79330800-79331600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
43	chr5:79330800-79331600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
44	chr5:79330800-79331600	Bivalent Enhancer	Fetal Brain Male	brain
45	chr5:79330800-79331600	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
46	chr5:79330800-79331600	Bivalent Enhancer	Lung	lung
47	chr5:79330800-79331600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
48	chr5:79330800-79331600	Enhancers	Spleen	Spleen
49	chr5:79330800-79331600	Bivalent/Poised TSS	HSMM	muscle
50	chr5:79330800-79331800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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