Variant report

Variant	rs574181116
Chromosome Location	chr5:179047104-179047105
allele	-/CAAAA
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:179046957-179049070	K562	blood:	n/a	n/a
2	POLR2A	chr5:179046851-179047199	SK-N-SH	brain:	n/a	n/a
3	MYC	chr5:179046683-179047151	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr5:179046881-179049431	K562	blood:	n/a	n/a
5	POLR2A	chr5:179046685-179051229	HepG2	liver:	n/a	n/a
6	POLR2A	chr5:179046804-179051909	U87	brain:	n/a	n/a
7	POLR2A	chr5:179046855-179052674	HepG2	liver:	n/a	n/a
8	POLR2A	chr5:179046772-179047149	GM12878	blood:	n/a	n/a
9	POLR2A	chr5:179039431-179049902	HepG2	liver:	n/a	n/a
10	POLR2A	chr5:179046826-179047513	HUVEC	blood vessel:	n/a	n/a
11	CHD1	chr5:179047015-179047189	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr5:179046819-179047137	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr5:179046790-179052167	PANC-1	pancreas:	n/a	n/a
14	POLR2A	chr5:179046825-179047941	HUVEC	blood vessel:	n/a	n/a
15	POLR2A	chr5:179046078-179049406	GM12878	blood:	n/a	n/a
16	POLR2A	chr5:179047087-179047153	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr5:179047035-179047691	K562	blood:	n/a	n/a
18	POLR2A	chr5:179046731-179051978	PANC-1	pancreas:	n/a	n/a
19	POLR2A	chr5:179046899-179052266	H1-hESC	embryonic stem cell:	n/a	n/a
20	FOS	chr5:179046798-179047142	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr5:179043848-179051855	MCF-7	breast:	n/a	n/a
22	POLR2A	chr5:179046694-179049912	HUVEC	blood vessel:	n/a	n/a
23	FOS	chr5:179046752-179047156	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr5:179046884-179052061	GM12891	blood:	n/a	n/a
25	POLR2A	chr5:179046931-179052092	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr5:179046889-179051904	GM12878	blood:	n/a	n/a
27	STAT3	chr5:179046827-179047356	MCF10A-Er-Src	breast:	n/a	chr5:179046960-179046971 chr5:179046955-179046976
28	POLR2A	chr5:179046832-179051357	SK-N-SH	brain:	n/a	n/a
29	POLR2A	chr5:179046804-179051915	U87	brain:	n/a	n/a
30	HEY1	chr5:179046816-179047119	K562	blood:	n/a	n/a
31	POLR2A	chr5:179046921-179051741	K562	blood:	n/a	n/a
32	POLR2A	chr5:179033822-179051830	PFSK-1	brain:	n/a	n/a
33	FOS	chr5:179046778-179047670	MCF10A-Er-Src	breast:	n/a	n/a
34	TBL1XR1	chr5:179046754-179049350	K562	blood:	n/a	n/a
35	POLR2A	chr5:179036058-179051879	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:177631876..177633528-chr5:179047045..179049302,2	MCF-7	breast:
2	chr5:178976539..178978410-chr5:179046983..179049342,2	MCF-7	breast:
3	chr5:179045239..179052804-chr5:179123707..179130726,40	K562	blood:

No data

Variant related genes	Relation type
HNRNPH1	TF binding region
ENSG00000127022	Chromatin interaction
ENSG00000176783	Chromatin interaction
ENSG00000197451	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2829850	chr5:178828854-179060995	Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
2	nsv949554	chr5:178832325-179309513	Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
3	nsv883270	chr5:178951106-179350387	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
4	nsv830560	chr5:179039212-179175758	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
5	nsv883273	chr5:179045142-179086833	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
6	nsv823357	chr5:179046318-179058193	Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	101 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179032400-179047400	Strong transcription	H9 Cell Line	embryonic stem cell
2	chr5:179041000-179047400	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr5:179041000-179047400	Strong transcription	Fetal Muscle Trunk	muscle
4	chr5:179041200-179048600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:179044400-179049400	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
6	chr5:179044400-179049800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:179044400-179050600	Transcr. at gene 5' and 3'	Dnd41	blood
8	chr5:179044600-179049800	Transcr. at gene 5' and 3'	A549	lung
9	chr5:179044800-179049400	Transcr. at gene 5' and 3'	K562	blood
10	chr5:179044800-179049800	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
11	chr5:179044800-179049800	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:179045000-179047400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr5:179045000-179047400	Genic enhancers	Brain Substantia Nigra	brain
14	chr5:179045000-179051200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
15	chr5:179045200-179049200	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
16	chr5:179045200-179049400	Transcr. at gene 5' and 3'	HUVEC	blood vessel
17	chr5:179045400-179047400	Weak transcription	Lung	lung
18	chr5:179045400-179047800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr5:179045400-179048800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr5:179045600-179048600	Active TSS	Right Atrium	heart
21	chr5:179045600-179049000	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
22	chr5:179045600-179049000	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr5:179045600-179049000	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
24	chr5:179045600-179049000	Transcr. at gene 5' and 3'	Duodenum Smooth Muscle	Duodenum
25	chr5:179045600-179049400	Transcr. at gene 5' and 3'	Hela-S3	cervix
26	chr5:179045600-179049400	Transcr. at gene 5' and 3'	NH-A	brain
27	chr5:179045600-179049400	Transcr. at gene 5' and 3'	Osteobl	bone
28	chr5:179045600-179049800	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr5:179045600-179049800	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
30	chr5:179045600-179049800	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr5:179045600-179049800	Transcr. at gene 5' and 3'	Fetal Lung	lung
32	chr5:179045600-179050200	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
33	chr5:179045800-179047400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr5:179045800-179047400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr5:179045800-179047400	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr5:179045800-179048000	Active TSS	Right Ventricle	heart
37	chr5:179045800-179049400	Transcr. at gene 5' and 3'	Fetal Kidney	kidney
38	chr5:179045800-179049400	Transcr. at gene 5' and 3'	HMEC	breast
39	chr5:179045800-179049400	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
40	chr5:179045800-179049600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
41	chr5:179045800-179049800	Transcr. at gene 5' and 3'	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr5:179045800-179050400	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
43	chr5:179046000-179047800	Genic enhancers	Primary neutrophils fromperipheralblood	blood
44	chr5:179046000-179047800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr5:179046000-179048000	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
46	chr5:179046000-179049000	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
47	chr5:179046000-179049200	Transcr. at gene 5' and 3'	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr5:179046000-179049200	Transcr. at gene 5' and 3'	NHEK	skin
49	chr5:179046000-179049400	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
50	chr5:179046000-179049400	Transcr. at gene 5' and 3'	HepG2	liver

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