Variant report

Variant	rs571633992
Chromosome Location	chr5:179046828-179046829
allele	A/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	FOS	chr5:179046767-179047085	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr5:179046465-179047070	U87	brain:	n/a	n/a
3	POLR2A	chr5:179046819-179046874	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr5:179046465-179047083	U87	brain:	n/a	n/a
5	MYC	chr5:179046683-179047151	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr5:179046685-179051229	HepG2	liver:	n/a	n/a
7	POLR2A	chr5:179046804-179051909	U87	brain:	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	POLR2A	chr5:179046819-179047137	HUVEC	blood vessel:	n/a	n/a
12	STAT3	chr5:179046433-179047049	MCF10A-Er-Src	breast:	n/a	chr5:179046960-179046971 chr5:179046955-179046976
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	chr5:179046815-179047015	GM12891	blood:	n/a	n/a
16	POLR2A	chr5:179046078-179049406	GM12878	blood:	n/a	n/a
17	POLR2A	chr5:179046731-179051978	PANC-1	pancreas:	n/a	n/a
18	POLR2A	chr5:179046185-179046881	K562	blood:	n/a	n/a
19	FOS	chr5:179046798-179047142	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr5:179043848-179051855	MCF-7	breast:	n/a	n/a
21	POLR2A	chr5:179046694-179049912	HUVEC	blood vessel:	n/a	n/a
22	FOS	chr5:179046752-179047156	MCF10A-Er-Src	breast:	n/a	n/a
23	STAT3	chr5:179046827-179047356	MCF10A-Er-Src	breast:	n/a	chr5:179046960-179046971 chr5:179046955-179046976
24	POLR2A	chr5:179046153-179046957	PFSK-1	brain:	n/a	n/a
25	POLR2A	chr5:179046804-179051915	U87	brain:	n/a	n/a
26	HEY1	chr5:179046816-179047119	K562	blood:	n/a	n/a
27	POLR2A	chr5:179033822-179051830	PFSK-1	brain:	n/a	n/a
28	FOS	chr5:179046778-179047670	MCF10A-Er-Src	breast:	n/a	n/a
29	TBL1XR1	chr5:179046754-179049350	K562	blood:	n/a	n/a
30	POLR2A	chr5:179036058-179051879	K562	blood:	n/a	n/a

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

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	chr5:179041000-179047400	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr5:179041000-179047400	Strong transcription	Fetal Muscle Trunk	muscle
5	chr5:179041200-179048600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:179043000-179047000	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr5:179044400-179049400	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
8	chr5:179044400-179049800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:179044400-179050600	Transcr. at gene 5' and 3'	Dnd41	blood
10	chr5:179044600-179049800	Transcr. at gene 5' and 3'	A549	lung
11	chr5:179044800-179049400	Transcr. at gene 5' and 3'	K562	blood
12	chr5:179044800-179049800	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
13	chr5:179044800-179049800	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr5:179045000-179047000	Genic enhancers	Brain Cingulate Gyrus	brain
15	chr5:179045000-179047400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr5:179045000-179047400	Genic enhancers	Brain Substantia Nigra	brain
17	chr5:179045000-179051200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
18	chr5:179045200-179049200	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
19	chr5:179045200-179049400	Transcr. at gene 5' and 3'	HUVEC	blood vessel
20	chr5:179045400-179047000	Genic enhancers	Placenta	Placenta
21	chr5:179045400-179047400	Weak transcription	Lung	lung
22	chr5:179045400-179047800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr5:179045400-179048800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr5:179045600-179047000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr5:179045600-179048600	Active TSS	Right Atrium	heart
26	chr5:179045600-179049000	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
27	chr5:179045600-179049000	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr5:179045600-179049000	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
29	chr5:179045600-179049000	Transcr. at gene 5' and 3'	Duodenum Smooth Muscle	Duodenum
30	chr5:179045600-179049400	Transcr. at gene 5' and 3'	Hela-S3	cervix
31	chr5:179045600-179049400	Transcr. at gene 5' and 3'	NH-A	brain
32	chr5:179045600-179049400	Transcr. at gene 5' and 3'	Osteobl	bone
33	chr5:179045600-179049800	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr5:179045600-179049800	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
35	chr5:179045600-179049800	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr5:179045600-179049800	Transcr. at gene 5' and 3'	Fetal Lung	lung
37	chr5:179045600-179050200	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
38	chr5:179045800-179047000	Transcr. at gene 5' and 3'	NHLF	lung
39	chr5:179045800-179047400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:179045800-179047400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr5:179045800-179047400	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr5:179045800-179048000	Active TSS	Right Ventricle	heart
43	chr5:179045800-179049400	Transcr. at gene 5' and 3'	Fetal Kidney	kidney
44	chr5:179045800-179049400	Transcr. at gene 5' and 3'	HMEC	breast
45	chr5:179045800-179049400	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
46	chr5:179045800-179049600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
47	chr5:179045800-179049800	Transcr. at gene 5' and 3'	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr5:179045800-179050400	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
49	chr5:179046000-179047000	Genic enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr5:179046000-179047800	Genic enhancers	Primary neutrophils fromperipheralblood	blood

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