Variant report

Variant	rs368058238
Chromosome Location	chr5:179046521-179046522
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:38)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:38 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:179046053-179046614	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr5:179045510-179046526	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr5:179041511-179046664	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr5:179046465-179047070	U87	brain:	n/a	n/a
5	POLR2A	chr5:179046465-179047083	U87	brain:	n/a	n/a
6	SP1	chr5:179046096-179046546	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr5:179045898-179046582	PANC-1	pancreas:	n/a	n/a
8	MBD4	chr5:179045844-179046540	HepG2	liver:	n/a	n/a
9	POLR2A	chr5:179045967-179046531	GM12892	blood:	n/a	n/a
10	POLR2A	chr5:179045422-179046581	GM12878	blood:	n/a	n/a
11	POLR2A	chr5:179046093-179046521	GM12891	blood:	n/a	n/a
12	POLR2A	chr5:179046057-179046573	U87	brain:	n/a	n/a
13	POLR2A	chr5:179046196-179046552	ECC-1	luminal epithelium:	n/a	n/a
14	POLR2A	chr5:179043797-179046611	GM12878	blood:	n/a	n/a
15	POLR2A	chr5:179046189-179046559	MCF10A-Er-Src	breast:	n/a	n/a
16	STAT3	chr5:179046043-179046678	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr5:179039431-179049902	HepG2	liver:	n/a	n/a
18	POLR2A	chr5:179045482-179046538	GM12892	blood:	n/a	n/a
19	CTCF	chr5:179046400-179046550	HCPEpiC	choroid plexus:	n/a	n/a
20	POLR2A	chr5:179041696-179046640	K562	blood:	n/a	n/a
21	STAT3	chr5:179046433-179047049	MCF10A-Er-Src	breast:	n/a	chr5:179046960-179046971 chr5:179046955-179046976
22	MBD4	chr5:179046141-179046610	HepG2	liver:	n/a	n/a
23	POLR2A	chr5:179046471-179046627	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr5:179046078-179049406	GM12878	blood:	n/a	n/a
25	POLR2A	chr5:179044291-179046579	U87	brain:	n/a	n/a
26	POLR2A	chr5:179046185-179046881	K562	blood:	n/a	n/a
27	ZNF263	chr5:179046159-179046564	HEK293-T-REx	kidney:	n/a	chr5:179046342-179046363
28	POLR2A	chr5:179045923-179046550	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr5:179043848-179051855	MCF-7	breast:	n/a	n/a
30	IRF1	chr5:179046472-179046808	K562	blood:	n/a	n/a
31	POLR2A	chr5:179046005-179046637	HUVEC	blood vessel:	n/a	n/a
32	POLR2A	chr5:179041593-179046548	SK-N-MC	brain:	n/a	n/a
33	POLR2A	chr5:179043735-179046582	GM12892	blood:	n/a	n/a
34	POLR2A	chr5:179046153-179046957	PFSK-1	brain:	n/a	n/a
35	POLR2A	chr5:179030899-179046584	PANC-1	pancreas:	n/a	n/a
36	POLR2A	chr5:179043859-179046706	K562	blood:	n/a	n/a
37	POLR2A	chr5:179033822-179051830	PFSK-1	brain:	n/a	n/a
38	POLR2A	chr5:179036058-179051879	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:179045239..179052804-chr5:179123707..179130726,40	K562	blood:

No data

Variant related genes	Relation type
HNRNPH1	TF binding region
ENSG00000127022	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	chr5:179012600-179047000	Strong transcription	H1 Cell Line	embryonic stem cell
2	chr5:179032400-179047400	Strong transcription	H9 Cell Line	embryonic stem cell
3	chr5:179034200-179046600	Strong transcription	Colonic Mucosa	Colon
4	chr5:179039800-179046800	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr5:179041000-179047400	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr5:179041000-179047400	Strong transcription	Fetal Muscle Trunk	muscle
7	chr5:179041200-179048600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr5:179043000-179047000	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr5:179044400-179046600	Genic enhancers	Left Ventricle	heart
10	chr5:179044400-179049400	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
11	chr5:179044400-179049800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:179044400-179050600	Transcr. at gene 5' and 3'	Dnd41	blood
13	chr5:179044600-179046600	Genic enhancers	Small Intestine	intestine
14	chr5:179044600-179049800	Transcr. at gene 5' and 3'	A549	lung
15	chr5:179044800-179046600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr5:179044800-179049400	Transcr. at gene 5' and 3'	K562	blood
17	chr5:179044800-179049800	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
18	chr5:179044800-179049800	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr5:179045000-179046600	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
20	chr5:179045000-179046600	Genic enhancers	Placenta Amnion	Placenta Amnion
21	chr5:179045000-179047000	Genic enhancers	Brain Cingulate Gyrus	brain
22	chr5:179045000-179047400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr5:179045000-179047400	Genic enhancers	Brain Substantia Nigra	brain
24	chr5:179045000-179051200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
25	chr5:179045200-179046800	Enhancers	Fetal Heart	heart
26	chr5:179045200-179049200	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
27	chr5:179045200-179049400	Transcr. at gene 5' and 3'	HUVEC	blood vessel
28	chr5:179045400-179047000	Genic enhancers	Placenta	Placenta
29	chr5:179045400-179047400	Weak transcription	Lung	lung
30	chr5:179045400-179047800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr5:179045400-179048800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr5:179045600-179046600	Genic enhancers	Primary hematopoietic stem cells	blood
33	chr5:179045600-179046600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr5:179045600-179046600	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
35	chr5:179045600-179047000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr5:179045600-179048600	Active TSS	Right Atrium	heart
37	chr5:179045600-179049000	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
38	chr5:179045600-179049000	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr5:179045600-179049000	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
40	chr5:179045600-179049000	Transcr. at gene 5' and 3'	Duodenum Smooth Muscle	Duodenum
41	chr5:179045600-179049400	Transcr. at gene 5' and 3'	Hela-S3	cervix
42	chr5:179045600-179049400	Transcr. at gene 5' and 3'	NH-A	brain
43	chr5:179045600-179049400	Transcr. at gene 5' and 3'	Osteobl	bone
44	chr5:179045600-179049800	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr5:179045600-179049800	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
46	chr5:179045600-179049800	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr5:179045600-179049800	Transcr. at gene 5' and 3'	Fetal Lung	lung
48	chr5:179045600-179050200	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
49	chr5:179045800-179047000	Transcr. at gene 5' and 3'	NHLF	lung
50	chr5:179045800-179047400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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