Variant report

Variant	rs545697783
Chromosome Location	chr5:52405116-52405117
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	chr5:52405022-52406119	K562	blood:	n/a	n/a
4	POLR2A	chr5:52404785-52405995	K562	blood:	n/a	n/a
5	POLR2A	chr5:52404973-52406398	HepG2	liver:	n/a	n/a
6	CEBPB	chr5:52404786-52405176	K562	blood:	n/a	chr5:52404947-52404960 chr5:52404948-52404959
7	TBP	chr5:52404911-52405998	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr5:52404781-52405999	MCF10A-Er-Src	breast:	n/a	n/a
9	MAFK	chr5:52404851-52405964	Hela-S3	cervix:	n/a	n/a
10	RCOR1	chr5:52404849-52405906	K562	blood:	n/a	n/a
11	POLR2A	chr5:52404763-52405225	H1-neurons	neurons:	n/a	n/a
12	GATA3	chr5:52404812-52405175	T-47D	breast:	n/a	n/a
13	EGR1	chr5:52405042-52406019	HCT-116	colon:	n/a	chr5:52405648-52405658 chr5:52405598-52405607
14	POLR2A	chr5:52404984-52405974	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr5:52404965-52406408	K562	blood:	n/a	n/a
16	MAX	chr5:52404852-52406021	SK-N-SH	brain:	n/a	chr5:52405647-52405657
17	HA-E2F1	chr5:52405025-52405980	MCF-7	breast:	n/a	chr5:52405598-52405607 chr5:52405594-52405601 chr5:52405475-52405487 chr5:52405621-52405630
18	JUND	chr5:52404816-52405995	K562	blood:	n/a	chr5:52405355-52405369
19	EBF1	chr5:52404941-52405828	GM12878	blood:	n/a	n/a
20	MAX	chr5:52404954-52405933	K562	blood:	n/a	chr5:52405647-52405657
21	MYC	chr5:52405032-52406040	K562	blood:	n/a	chr5:52405647-52405657
22	CEBPB	chr5:52404767-52405216	Hela-S3	cervix:	n/a	chr5:52404947-52404960 chr5:52404948-52404959
23	POLR2A	chr5:52405079-52406119	PFSK-1	brain:	n/a	n/a
24	FOXA1	chr5:52404702-52405258	T-47D	breast:	n/a	n/a
25	MAX	chr5:52404802-52406149	A549	lung:	n/a	chr5:52405647-52405657
26	MXI1	chr5:52404860-52406050	GM12878	blood:	n/a	n/a
27	SIN3A	chr5:52404856-52405984	H1-hESC	embryonic stem cell:	n/a	chr5:52405640-52405651
28	CEBPB	chr5:52404789-52405217	MCF-7	breast:	n/a	chr5:52404947-52404960 chr5:52404948-52404959
29	FOXA1	chr5:52404805-52405173	T-47D	breast:	n/a	n/a
30	JUND	chr5:52404977-52405126	HepG2	liver:	n/a	n/a
31	MAX	chr5:52404843-52406064	ECC-1	luminal epithelium:	n/a	chr5:52405647-52405657
32	NRF1	chr5:52405073-52406077	SK-N-SH	brain:	n/a	chr5:52405596-52405607 chr5:52405597-52405611 chr5:52405620-52405631 chr5:52405597-52405608 chr5:52405649-52405658 chr5:52405667-52405678 chr5:52405650-52405661
33	TAF1	chr5:52405108-52405897	GM12878	blood:	n/a	n/a
34	GTF2F1	chr5:52404951-52405989	Hela-S3	cervix:	n/a	n/a
35	REST	chr5:52404904-52406190	H1-neurons	neurons:	n/a	n/a
36	CHD2	chr5:52405029-52405922	GM12878	blood:	n/a	chr5:52405594-52405601
37	RFX5	chr5:52404805-52405934	Hela-S3	cervix:	n/a	n/a
38	MXI1	chr5:52404860-52406008	Hela-S3	cervix:	n/a	n/a
39	MTA3	chr5:52405064-52406066	GM12878	blood:	n/a	n/a
40	CEBPB	chr5:52404722-52405190	A549	lung:	n/a	chr5:52404947-52404960 chr5:52404948-52404959
41	POLR2A	chr5:52404758-52405970	MCF10A-Er-Src	breast:	n/a	n/a
42	MAX	chr5:52404817-52406185	Hela-S3	cervix:	n/a	chr5:52405647-52405657
43	UBTF	chr5:52405026-52405536	K562	blood:	n/a	n/a
44	POLR2A	chr5:52405030-52406236	NB4	blood:	n/a	n/a
45	RELA	chr5:52404897-52405983	GM15510	blood:	n/a	n/a
46	SIN3AK20	chr5:52405087-52405674	PANC-1	pancreas:	n/a	n/a
47	SIN3AK20	chr5:52404864-52405972	SK-N-SH	brain:	n/a	n/a
48	CCNT2	chr5:52405018-52405880	K562	blood:	n/a	n/a
49	CEBPB	chr5:52404749-52405118	K562	blood:	n/a	chr5:52404947-52404960 chr5:52404948-52404959
50	MYC	chr5:52404888-52406211	NB4	blood:	n/a	chr5:52405647-52405657

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:52405108-52405158	AoSMC	blood vessel:	n/a
2	chr5:52405108-52405158	AG09309	skin:	n/a
3	chr5:52405108-52405158	HepG2	liver:	n/a
4	chr5:52405108-52405158	AG09319	gingival:	n/a
5	chr5:52405108-52405158	HIPEpiC	eye:	n/a
6	chr5:52405108-52405158	GM12878	blood:	n/a
7	chr5:52405108-52405158	PrEC	prostate:	n/a
8	chr5:52405108-52405158	ECC-1	luminal epithelium:	n/a
9	chr5:52405108-52405158	HMEC	breast:	n/a
10	chr5:52405108-52405158	GM12891	blood:	n/a
11	chr5:52405108-52405158	SK-N-SH	brain:	n/a
12	chr5:52405108-52405158	NB4	blood:	n/a
13	chr5:52405108-52405158	LNCaP	prostate:	n/a
14	chr5:52405108-52405158	ovcar-3	ovarian:	n/a
15	chr5:52405108-52405158	HPAEpiC	pulmonary alveolar:	n/a
16	chr5:52405108-52405158	HRPEpiC	eye:	n/a
17	chr5:52405108-52405158	HEK293	kidney:	embryo
18	chr5:52405108-52405158	NHDF-neo	bronchial:	n/a
19	chr5:52405108-52405158	AG04450	lung:	fetal
20	chr5:52405108-52405158	SKMC	muscle:	n/a
21	chr5:52405108-52405158	K562	blood:	n/a
22	chr5:52405108-52405158	Jurkat	blood:	n/a
23	chr5:52405108-52405158	Hela-S3	cervix:	n/a
24	chr5:52405108-52405158	GM06990	blood:	n/a
25	chr5:52405108-52405158	RPTEC	kidney:	n/a
26	chr5:52405108-52405158	HEEpiC	esophagus:	n/a
27	chr5:52405108-52405158	Caco-2	colon:	n/a
28	chr5:52405108-52405158	HUVEC	blood vessel:	n/a
29	chr5:52405108-52405158	HNPCEpiC	eye:	n/a
30	chr5:52405108-52405158	T-47D	breast:	n/a
31	chr5:52405108-52405158	BE2_C	brain:	n/a
32	chr5:52405108-52405158	HCM	heart:	n/a
33	chr5:52405108-52405158	GM12892	blood:	n/a
34	chr5:52405108-52405158	HCF	heart:	n/a
35	chr5:52405108-52405158	PANC-1	pancreas:	n/a
36	chr5:52405108-52405158	SAEC	small airway:	n/a
37	chr5:52405108-52405158	MCF-7	breast:	n/a
38	chr5:52405108-52405158	HL-60	blood:	n/a
39	chr5:52405108-52405158	HAEpiC	amniotic membrane:	n/a
40	chr5:52405108-52405158	CMK	blood:	n/a
41	chr5:52405108-52405158	ProgFib	skin:	n/a
42	chr5:52405108-52405158	NH-A	brain:	n/a
43	chr5:52405108-52405158	AG10803	skin:	n/a
44	chr5:52405108-52405158	A549	lung:	n/a
45	chr5:52405108-52405158	H1-hESC	embryonic stem cell:	embryo
46	chr5:52405108-52405158	NHBE	bronchial:	n/a
47	chr5:52405108-52405158	U87	brain:	n/a
48	chr5:52405108-52405158	HRCEpiC	kidney:	n/a
49	chr5:52405108-52405158	GM19239	blood:	n/a
50	chr5:52405108-52405158	PFSK-1	brain:	n/a

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:
4	chr5:52405061..52405947-chr9:131445854..131446584,2	HCT-116	colon:

Variant related genes	Relation type
MOCS2	TF binding region
ENSG00000247796	TF binding region
MOCS2	CpG island
ENSG00000247796	CpG island
ENSG00000163659	Chromatin interaction
ENSG00000243926	Chromatin interaction
ENSG00000272123	Chromatin interaction
ENSG00000164171	Chromatin interaction
ENSG00000119335	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52395400-52405200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:52395600-52405400	Weak transcription	Spleen	Spleen
3	chr5:52395800-52405200	Weak transcription	Small Intestine	intestine
4	chr5:52403800-52406600	Active TSS	K562	blood
5	chr5:52404000-52406200	Active TSS	NHLF	lung
6	chr5:52404200-52406000	Active TSS	NHEK	skin
7	chr5:52404400-52405200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:52404400-52405200	Flanking Active TSS	Dnd41	blood
9	chr5:52404400-52405600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr5:52404400-52406400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:52404400-52406400	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr5:52404400-52406400	Active TSS	Psoas Muscle	Psoas
13	chr5:52404400-52406400	Active TSS	GM12878-XiMat	blood
14	chr5:52404600-52405200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
15	chr5:52404600-52405200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr5:52404600-52405200	Active TSS	Brain Germinal Matrix	brain
17	chr5:52404600-52405200	Flanking Active TSS	Duodenum Mucosa	Duodenum
18	chr5:52404600-52405200	Flanking Active TSS	Fetal Brain Female	brain
19	chr5:52404600-52405200	Flanking Active TSS	HUVEC	blood vessel
20	chr5:52404600-52405200	Flanking Active TSS	Osteobl	bone
21	chr5:52404600-52405400	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr5:52404600-52406000	Active TSS	Fetal Stomach	stomach
23	chr5:52404600-52406000	Active TSS	Stomach Smooth Muscle	stomach
24	chr5:52404600-52406000	Active TSS	HMEC	breast
25	chr5:52404600-52406200	Active TSS	Brain Hippocampus Middle	brain
26	chr5:52404600-52406200	Active TSS	Colon Smooth Muscle	Colon
27	chr5:52404600-52406200	Active TSS	Fetal Intestine Large	intestine
28	chr5:52404600-52406400	Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr5:52404600-52406400	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr5:52404600-52406400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr5:52404600-52406400	Active TSS	Brain Anterior Caudate	brain
32	chr5:52404600-52406600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr5:52404600-52406600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr5:52404600-52406600	Active TSS	A549	lung
35	chr5:52404600-52406600	Active TSS	HepG2	liver
36	chr5:52404600-52406600	Active TSS	NHDF-Ad	bronchial
37	chr5:52404600-52407000	Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr5:52404800-52405200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr5:52404800-52405200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
40	chr5:52404800-52405200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
41	chr5:52404800-52405200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr5:52404800-52405200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr5:52404800-52405200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
44	chr5:52404800-52405200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
45	chr5:52404800-52405200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
46	chr5:52404800-52405200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr5:52404800-52405200	Flanking Active TSS	Adipose Nuclei	Adipose
48	chr5:52404800-52405200	Flanking Active TSS	Brain Angular Gyrus	brain
49	chr5:52404800-52405200	Flanking Active TSS	Fetal Heart	heart
50	chr5:52404800-52405200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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