Variant report

Variant	rs560521536
Chromosome Location	chr5:179045712-179045713
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:53)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:53 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:179039513-179045860	GM12878	blood:	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	chr5:179032268-179046451	HepG2	liver:	n/a	n/a
5	POLR2A	chr5:179042826-179046520	HepG2	liver:	n/a	n/a
6	POLR2A	chr5:179045705-179046175	K562	blood:	n/a	n/a
7	POLR2A	chr5:179045492-179045860	GM12891	blood:	n/a	n/a
8	POLR2A	chr5:179045493-179045938	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr5:179043857-179046487	GM12878	blood:	n/a	n/a
10	POLR2A	chr5:179045472-179045871	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr5:179045535-179045771	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr5:179043926-179046411	HepG2	liver:	n/a	n/a
13	HEY1	chr5:179045461-179045829	HepG2	liver:	n/a	n/a
14	POLR2A	chr5:179045664-179045797	ProgFib	skin:	n/a	n/a
15	POLR2A	chr5:179044704-179045794	HUVEC	blood vessel:	n/a	n/a
16	POLR2A	chr5:179045612-179045763	GM12878	blood:	n/a	n/a
17	POLR2A	chr5:179045422-179046581	GM12878	blood:	n/a	n/a
18	POLR2A	chr5:179045448-179045859	GM12891	blood:	n/a	n/a
19	POLR2A	chr5:179043797-179046611	GM12878	blood:	n/a	n/a
20	POLR2A	chr5:179039431-179049902	HepG2	liver:	n/a	n/a
21	POLR2A	chr5:179045482-179046538	GM12892	blood:	n/a	n/a
22	POLR2A	chr5:179041696-179046640	K562	blood:	n/a	n/a
23	POLR2A	chr5:179045664-179045780	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr5:179042278-179046065	U87	brain:	n/a	n/a
25	POLR2A	chr5:179045493-179045879	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr5:179045592-179045879	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr5:179045490-179045940	GM12891	blood:	n/a	n/a
28	POLR2A	chr5:179045659-179045726	HUVEC	blood vessel:	n/a	n/a
29	POLR2A	chr5:179042778-179046466	K562	blood:	n/a	n/a
30	POLR2A	chr5:179044291-179046579	U87	brain:	n/a	n/a
31	POLR2A	chr5:179045534-179045881	SK-N-SH	brain:	n/a	n/a
32	POLR2A	chr5:179044388-179045809	A549	lung:	n/a	n/a
33	POLR2A	chr5:179036095-179046498	GM12891	blood:	n/a	n/a
34	POLR2A	chr5:179044291-179045990	U87	brain:	n/a	n/a
35	POLR2A	chr5:179045466-179046487	GM12892	blood:	n/a	n/a
36	POLR2A	chr5:179045591-179045866	HepG2	liver:	n/a	n/a
37	POLR2A	chr5:179043809-179045917	GM12892	blood:	n/a	n/a
38	POLR2A	chr5:179045492-179046107	K562	blood:	n/a	n/a
39	POLR2A	chr5:179043848-179051855	MCF-7	breast:	n/a	n/a
40	POLR2A	chr5:179045512-179045861	GM12891	blood:	n/a	n/a
41	POLR2A	chr5:179041593-179046548	SK-N-MC	brain:	n/a	n/a
42	POLR2A	chr5:179043735-179046582	GM12892	blood:	n/a	n/a
43	POLR2A	chr5:179044287-179046095	PFSK-1	brain:	n/a	n/a
44	POLR2A	chr5:179045562-179045823	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr5:179030899-179046584	PANC-1	pancreas:	n/a	n/a
46	POLR2A	chr5:179044476-179045883	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr5:179044048-179046113	U87	brain:	n/a	n/a
48	POLR2A	chr5:179043859-179046706	K562	blood:	n/a	n/a
49	POLR2A	chr5:179045532-179045837	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr5:179045569-179045776	HepG2	liver:	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: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 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

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	chr5:179014000-179046000	Strong transcription	Cortex derived primary cultured neurospheres	brain
3	chr5:179028200-179046200	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr5:179028400-179046000	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr5:179028600-179046200	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr5:179031000-179046200	Strong transcription	Primary B cells from peripheral blood	blood
7	chr5:179032200-179045800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:179032200-179046400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr5:179032400-179047400	Strong transcription	H9 Cell Line	embryonic stem cell
10	chr5:179033600-179046000	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr5:179034200-179046600	Strong transcription	Colonic Mucosa	Colon
12	chr5:179035800-179046200	Strong transcription	Brain Inferior Temporal Lobe	brain
13	chr5:179036000-179046000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
14	chr5:179036400-179046200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
15	chr5:179036800-179046200	Strong transcription	HSMMtube	muscle
16	chr5:179037200-179046000	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr5:179037200-179046000	Strong transcription	Ovary	ovary
18	chr5:179037400-179045800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:179037600-179045800	Strong transcription	Brain Anterior Caudate	brain
20	chr5:179037600-179046400	Strong transcription	Spleen	Spleen
21	chr5:179037800-179045800	Genic enhancers	NHLF	lung
22	chr5:179039800-179046800	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr5:179041000-179046200	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr5:179041000-179047400	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr5:179041000-179047400	Strong transcription	Fetal Muscle Trunk	muscle
26	chr5:179041200-179048600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr5:179041600-179046000	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr5:179041800-179046200	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr5:179042000-179046200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
30	chr5:179042200-179046400	Strong transcription	Esophagus	oesophagus
31	chr5:179042400-179046000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr5:179042400-179046200	Genic enhancers	Liver	Liver
33	chr5:179042800-179046000	Genic enhancers	HepG2	liver
34	chr5:179043000-179047000	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr5:179043200-179046000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr5:179043600-179046000	Strong transcription	HSMM	muscle
37	chr5:179043600-179046200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr5:179044400-179046000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr5:179044400-179046200	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:179044400-179046200	Genic enhancers	Fetal Muscle Leg	muscle
41	chr5:179044400-179046200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
42	chr5:179044400-179046600	Genic enhancers	Left Ventricle	heart
43	chr5:179044400-179049400	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
44	chr5:179044400-179049800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr5:179044400-179050600	Transcr. at gene 5' and 3'	Dnd41	blood
46	chr5:179044600-179045800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr5:179044600-179046000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr5:179044600-179046600	Genic enhancers	Small Intestine	intestine
49	chr5:179044600-179049800	Transcr. at gene 5' and 3'	A549	lung
50	chr5:179044800-179045800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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