Variant report

Variant	rs544436914
Chromosome Location	chr5:52404988-52404989
allele	C/T
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	CEBPB	chr5:52404798-52405125	A549	lung:	n/a	chr5:52404947-52404960 chr5:52404948-52404959
2	SMC3	chr5:52404785-52405916	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr5:52404785-52405995	K562	blood:	n/a	n/a
4	POLR2A	chr5:52404973-52406398	HepG2	liver:	n/a	n/a
5	CEBPB	chr5:52404786-52405176	K562	blood:	n/a	chr5:52404947-52404960 chr5:52404948-52404959
6	TBP	chr5:52404911-52405998	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr5:52404781-52405999	MCF10A-Er-Src	breast:	n/a	n/a
8	MAFK	chr5:52404851-52405964	Hela-S3	cervix:	n/a	n/a
9	RCOR1	chr5:52404849-52405906	K562	blood:	n/a	n/a
10	POLR2A	chr5:52404763-52405225	H1-neurons	neurons:	n/a	n/a
11	GATA3	chr5:52404812-52405175	T-47D	breast:	n/a	n/a
12	POLR2A	chr5:52404984-52405974	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr5:52404965-52406408	K562	blood:	n/a	n/a
14	CEBPB	chr5:52404817-52405112	IMR90	lung:	n/a	chr5:52404947-52404960 chr5:52404948-52404959
15	STAT3	chr5:52404867-52405048	MCF10A-Er-Src	breast:	n/a	n/a
16	MAX	chr5:52404852-52406021	SK-N-SH	brain:	n/a	chr5:52405647-52405657
17	JUND	chr5:52404816-52405995	K562	blood:	n/a	chr5:52405355-52405369
18	EBF1	chr5:52404941-52405828	GM12878	blood:	n/a	n/a
19	MAX	chr5:52404954-52405933	K562	blood:	n/a	chr5:52405647-52405657
20	CEBPB	chr5:52404767-52405216	Hela-S3	cervix:	n/a	chr5:52404947-52404960 chr5:52404948-52404959
21	FOXA1	chr5:52404702-52405258	T-47D	breast:	n/a	n/a
22	MAX	chr5:52404802-52406149	A549	lung:	n/a	chr5:52405647-52405657
23	MXI1	chr5:52404860-52406050	GM12878	blood:	n/a	n/a
24	SIN3A	chr5:52404856-52405984	H1-hESC	embryonic stem cell:	n/a	chr5:52405640-52405651
25	CEBPB	chr5:52404789-52405217	MCF-7	breast:	n/a	chr5:52404947-52404960 chr5:52404948-52404959
26	FOXA1	chr5:52404805-52405173	T-47D	breast:	n/a	n/a
27	FOXA2	chr5:52404870-52405072	HepG2	liver:	n/a	n/a
28	JUND	chr5:52404977-52405126	HepG2	liver:	n/a	n/a
29	MAX	chr5:52404843-52406064	ECC-1	luminal epithelium:	n/a	chr5:52405647-52405657
30	GTF2F1	chr5:52404951-52405989	Hela-S3	cervix:	n/a	n/a
31	REST	chr5:52404904-52406190	H1-neurons	neurons:	n/a	n/a
32	RFX5	chr5:52404805-52405934	Hela-S3	cervix:	n/a	n/a
33	MXI1	chr5:52404860-52406008	Hela-S3	cervix:	n/a	n/a
34	CEBPB	chr5:52404722-52405190	A549	lung:	n/a	chr5:52404947-52404960 chr5:52404948-52404959
35	POLR2A	chr5:52404758-52405970	MCF10A-Er-Src	breast:	n/a	n/a
36	MAX	chr5:52404817-52406185	Hela-S3	cervix:	n/a	chr5:52405647-52405657
37	RELA	chr5:52404897-52405983	GM15510	blood:	n/a	n/a
38	SIN3AK20	chr5:52404864-52405972	SK-N-SH	brain:	n/a	n/a
39	CEBPB	chr5:52404749-52405118	K562	blood:	n/a	chr5:52404947-52404960 chr5:52404948-52404959
40	MYC	chr5:52404888-52406211	NB4	blood:	n/a	chr5:52405647-52405657
41	MAX	chr5:52404835-52406152	NB4	blood:	n/a	chr5:52405647-52405657
42	RFX5	chr5:52404831-52405143	K562	blood:	n/a	n/a
43	MYC	chr5:52404963-52406144	K562	blood:	n/a	chr5:52405647-52405657
44	CEBPB	chr5:52404820-52405097	HepG2	liver:	n/a	chr5:52404947-52404960 chr5:52404948-52404959
45	MAZ	chr5:52404884-52405935	K562	blood:	n/a	chr5:52405647-52405657
46	CEBPB	chr5:52404795-52405145	HepG2	liver:	n/a	chr5:52404947-52404960 chr5:52404948-52404959
47	IRF1	chr5:52404647-52405938	K562	blood:	n/a	n/a
48	CEBPZ	chr5:52404960-52405125	HepG2	liver:	n/a	n/a
49	POLR2A	chr5:52404975-52405123	ProgFib	skin:	n/a	n/a
50	MAZ	chr5:52404825-52406141	IMR90	lung:	n/a	chr5:52405647-52405657

No.	Distal block	Cell Line	Cell type
1	chr5:52384729..52387843-chr5:52404184..52407459,4	MCF-7	breast:
2	chr5:52282064..52285632-chr5:52404082..52406997,3	MCF-7	breast:
3	chr3:156391977..156392928-chr5:52404476..52405230,2	Hela-S3	cervix:

Variant related genes	Relation type
MOCS2	TF binding region
ENSG00000247796	TF binding region
ENSG00000164171	Chromatin interaction
ENSG00000163659	Chromatin interaction
ENSG00000243926	Chromatin interaction
ENSG00000272123	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949005	chr5:52188028-52808229	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv830296	chr5:52209528-52410253	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv442948	chr5:52404519-52409439	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52378400-52405000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:52387600-52405000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:52393000-52405000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:52395400-52405200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:52395600-52405000	Weak transcription	Gastric	stomach
6	chr5:52395600-52405400	Weak transcription	Spleen	Spleen
7	chr5:52395800-52405000	Weak transcription	Lung	lung
8	chr5:52395800-52405200	Weak transcription	Small Intestine	intestine
9	chr5:52403600-52405000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr5:52403800-52406600	Active TSS	K562	blood
11	chr5:52404000-52406200	Active TSS	NHLF	lung
12	chr5:52404200-52406000	Active TSS	NHEK	skin
13	chr5:52404400-52405000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:52404400-52405000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:52404400-52405200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:52404400-52405200	Flanking Active TSS	Dnd41	blood
17	chr5:52404400-52405600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr5:52404400-52406400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr5:52404400-52406400	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr5:52404400-52406400	Active TSS	Psoas Muscle	Psoas
21	chr5:52404400-52406400	Active TSS	GM12878-XiMat	blood
22	chr5:52404600-52405000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr5:52404600-52405000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:52404600-52405000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
25	chr5:52404600-52405000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:52404600-52405000	Flanking Active TSS	Primary T cells from cord blood	blood
27	chr5:52404600-52405000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr5:52404600-52405000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
29	chr5:52404600-52405000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr5:52404600-52405000	Flanking Active TSS	Brain Cingulate Gyrus	brain
31	chr5:52404600-52405000	Flanking Active TSS	Fetal Lung	lung
32	chr5:52404600-52405000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
33	chr5:52404600-52405200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
34	chr5:52404600-52405200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr5:52404600-52405200	Active TSS	Brain Germinal Matrix	brain
36	chr5:52404600-52405200	Flanking Active TSS	Duodenum Mucosa	Duodenum
37	chr5:52404600-52405200	Flanking Active TSS	Fetal Brain Female	brain
38	chr5:52404600-52405200	Flanking Active TSS	HUVEC	blood vessel
39	chr5:52404600-52405200	Flanking Active TSS	Osteobl	bone
40	chr5:52404600-52405400	Flanking Active TSS	Primary B cells from cord blood	blood
41	chr5:52404600-52406000	Active TSS	Fetal Stomach	stomach
42	chr5:52404600-52406000	Active TSS	Stomach Smooth Muscle	stomach
43	chr5:52404600-52406000	Active TSS	HMEC	breast
44	chr5:52404600-52406200	Active TSS	Brain Hippocampus Middle	brain
45	chr5:52404600-52406200	Active TSS	Colon Smooth Muscle	Colon
46	chr5:52404600-52406200	Active TSS	Fetal Intestine Large	intestine
47	chr5:52404600-52406400	Active TSS	ES-I3 Cell Line	embryonic stem cell
48	chr5:52404600-52406400	Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr5:52404600-52406400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr5:52404600-52406400	Active TSS	Brain Anterior Caudate	brain

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