Variant report

Variant	rs558927659
Chromosome Location	chr5:68629584-68629585
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAF1	chr5:68629563-68629889	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr5:68629558-68629870	Hela-S3	cervix:	n/a	n/a
3	GABPA	chr5:68629578-68629819	GM12878	blood:	n/a	n/a
4	POLR2A	chr5:68629556-68629972	K562	blood:	n/a	n/a
5	POLR2A	chr5:68629384-68630041	GM12892	blood:	n/a	n/a
6	POLR2A	chr5:68629436-68630034	GM12892	blood:	n/a	n/a
7	GABPA	chr5:68629554-68629815	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr5:68629535-68630059	A549	lung:	n/a	n/a
9	HEY1	chr5:68629513-68629957	HepG2	liver:	n/a	n/a
10	POLR2A	chr5:68629489-68629954	GM12892	blood:	n/a	n/a
11	POLR2A	chr5:68629554-68629909	GM12891	blood:	n/a	n/a
12	POLR2A	chr5:68629538-68629977	MCF-7	breast:	n/a	n/a
13	TAF1	chr5:68629566-68629920	GM12892	blood:	n/a	n/a
14	POLR2A	chr5:68629499-68629911	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr5:68629475-68629954	HepG2	liver:	n/a	n/a
16	POLR2A	chr5:68629457-68629987	GM12892	blood:	n/a	n/a
17	POU2F2	chr5:68629561-68629997	GM12878	blood:	n/a	n/a
18	POLR2A	chr5:68629500-68629891	SK-N-MC	brain:	n/a	n/a
19	HEY1	chr5:68629533-68629907	K562	blood:	n/a	n/a
20	TAF1	chr5:68629556-68629910	HepG2	liver:	n/a	n/a
21	POLR2A	chr5:68629330-68629990	MCF-7	breast:	n/a	n/a
22	POLR2A	chr5:68629473-68629997	GM12878	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:68628802..68630677-chr5:68662896..68664873,2	K562	blood:
2	chr5:68628027..68630302-chr5:68663373..68666765,3	K562	blood:
3	chr5:68626792..68633026-chr5:68660168..68667090,13	MCF-7	breast:
4	chr5:68626462..68633259-chr5:68656360..68665608,14	MCF-7	breast:
5	chr5:68513358..68515252-chr5:68629266..68631706,2	K562	blood:
6	chr5:68628511..68630857-chr5:68714273..68716319,2	MCF-7	breast:
7	chr5:68388706..68391393-chr5:68627238..68631529,6	MCF-7	breast:

No data

Variant related genes	Relation type
CCDC125	TF binding region
CHCHD2P2	TF binding region
ENSG00000134056	Chromatin interaction
ENSG00000145740	Chromatin interaction
ENSG00000152942	Chromatin interaction
ENSG00000085231	Chromatin interaction
ENSG00000152939	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018151	chr5:68377118-68667581	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv1035004	chr5:68405526-68670101	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv969960	chr5:68613678-68646127	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv3515528	chr5:68624487-68653938	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv3515529	chr5:68624487-68653938	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv881767	chr5:68625786-68733698	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv968922	chr5:68628679-68631659	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68628600-68629600	Flanking Active TSS	Dnd41	blood
2	chr5:68628800-68649200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:68629000-68629600	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr5:68629000-68629600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr5:68629000-68629600	ZNF genes & repeats	Fetal Thymus	thymus
6	chr5:68629000-68629600	Weak transcription	Right Atrium	heart
7	chr5:68629000-68629600	Weak transcription	Right Ventricle	heart
8	chr5:68629000-68629600	Enhancers	GM12878-XiMat	blood
9	chr5:68629000-68629800	Enhancers	Primary T cells fromperipheralblood	blood
10	chr5:68629000-68629800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr5:68629000-68629800	Weak transcription	Brain Angular Gyrus	brain
12	chr5:68629000-68629800	Enhancers	HepG2	liver
13	chr5:68629000-68630000	Enhancers	Fetal Heart	heart
14	chr5:68629000-68630000	Enhancers	Pancreas	Pancrea
15	chr5:68629000-68630400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:68629000-68630400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr5:68629000-68630400	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr5:68629000-68630400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr5:68629000-68630400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr5:68629000-68630400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr5:68629000-68630400	Weak transcription	Brain Anterior Caudate	brain
22	chr5:68629000-68630400	Weak transcription	Brain Germinal Matrix	brain
23	chr5:68629000-68630400	Weak transcription	Brain Hippocampus Middle	brain
24	chr5:68629000-68630400	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr5:68629000-68630400	Weak transcription	Brain Substantia Nigra	brain
26	chr5:68629000-68630400	Weak transcription	NHEK	skin
27	chr5:68629000-68630600	Weak transcription	Adipose Nuclei	Adipose
28	chr5:68629000-68630600	Weak transcription	Brain Cingulate Gyrus	brain
29	chr5:68629000-68630600	Weak transcription	Small Intestine	intestine
30	chr5:68629000-68630600	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr5:68629000-68630600	Weak transcription	Osteobl	bone
32	chr5:68629000-68630800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr5:68629000-68630800	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr5:68629000-68630800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr5:68629000-68630800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr5:68629000-68630800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr5:68629000-68630800	Weak transcription	K562	blood
38	chr5:68629000-68631000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr5:68629000-68631000	Weak transcription	Fetal Intestine Small	intestine
40	chr5:68629000-68631000	Enhancers	Fetal Muscle Trunk	muscle
41	chr5:68629000-68631200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr5:68629000-68631200	Weak transcription	HMEC	breast
43	chr5:68629000-68631800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr5:68629000-68645800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr5:68629000-68646000	Weak transcription	Primary T cells from cord blood	blood
46	chr5:68629000-68646800	Weak transcription	NH-A	brain
47	chr5:68629200-68629600	Enhancers	Liver	Liver
48	chr5:68629200-68629600	Enhancers	Colonic Mucosa	Colon
49	chr5:68629200-68629800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr5:68629200-68630400	Weak transcription	Primary T helper cells PMA-I stimulated	--

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