Variant report

Variant	rs6451534
Chromosome Location	chr5:40676199-40676200
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr5:40675993-40676320	GM12878	blood:	n/a	n/a
2	BHLHE40	chr5:40676033-40676326	GM12878	blood:	n/a	n/a
3	CUX1	chr5:40676114-40676412	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:40676198-40676248	GM06990	blood:	n/a
2	chr5:40676198-40676248	HEEpiC	esophagus:	n/a
3	chr5:40676198-40676248	NB4	blood:	n/a
4	chr5:40676198-40676248	SK-N-SH	brain:	n/a
5	chr5:40676198-40676248	HCT-116	colon:	n/a
6	chr5:40676198-40676248	GM12891	blood:	n/a
7	chr5:40676198-40676248	NHDF-neo	bronchial:	n/a
8	chr5:40676198-40676248	ECC-1	luminal epithelium:	n/a
9	chr5:40676198-40676248	T-47D	breast:	n/a
10	chr5:40676198-40676248	HAEpiC	amniotic membrane:	n/a
11	chr5:40676198-40676248	CMK	blood:	n/a
12	chr5:40676198-40676248	AG04450	lung:	fetal
13	chr5:40676198-40676248	MCF10A-Er-Src	breast:	n/a
14	chr5:40676198-40676248	GM12892	blood:	n/a
15	chr5:40676198-40676248	SK-N-SH_RA	brain:	n/a
16	chr5:40676198-40676248	HRCEpiC	kidney:	n/a
17	chr5:40676198-40676248	HNPCEpiC	eye:	n/a
18	chr5:40676198-40676248	LNCaP	prostate:	n/a
19	chr5:40676198-40676248	SKMC	muscle:	n/a
20	chr5:40676198-40676248	PFSK-1	brain:	n/a
21	chr5:40676198-40676248	MCF-7	breast:	n/a
22	chr5:40676198-40676248	HRE	kidney:	n/a
23	chr5:40676198-40676248	BE2_C	brain:	n/a
24	chr5:40676198-40676248	RPTEC	kidney:	n/a
25	chr5:40676198-40676248	AG10803	skin:	n/a
26	chr5:40676198-40676248	AG04449	skin:	fetal
27	chr5:40676198-40676248	H1-hESC	embryonic stem cell:	embryo
28	chr5:40676198-40676248	Hepatocyte	liver:	n/a
29	chr5:40676198-40676248	NH-A	brain:	n/a
30	chr5:40676198-40676248	HCF	heart:	n/a
31	chr5:40676198-40676248	NHBE	bronchial:	n/a
32	chr5:40676198-40676248	A549	lung:	n/a
33	chr5:40676198-40676248	Caco-2	colon:	n/a
34	chr5:40676198-40676248	BJ	skin:	n/a
35	chr5:40676198-40676248	U87	brain:	n/a
36	chr5:40676198-40676248	K562	blood:	n/a
37	chr5:40676198-40676248	GM12878	blood:	n/a
38	chr5:40676198-40676248	HCPEpiC	choroid plexus:	n/a
39	chr5:40676198-40676248	HepG2	liver:	n/a
40	chr5:40676198-40676248	ProgFib	skin:	n/a
41	chr5:40676198-40676248	Hela-S3	cervix:	n/a
42	chr5:40676198-40676248	SAEC	small airway:	n/a
43	chr5:40676198-40676248	IMR90	lung:	fetal
44	chr5:40676198-40676248	NT2-D1	testis:	n/a
45	chr5:40676198-40676248	HMEC	breast:	n/a
46	chr5:40676198-40676248	SK-N-MC	brain:	n/a
47	chr5:40676198-40676248	HEK293	kidney:	embryo
48	chr5:40676198-40676248	HPAEpiC	pulmonary alveolar:	n/a
49	chr5:40676198-40676248	PANC-1	pancreas:	n/a
50	chr5:40676198-40676248	ovcar-3	ovarian:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:40674492..40676640-chr5:40683671..40686128,2	MCF-7	breast:
2	chr5:40676137..40677874-chr5:40679595..40681431,2	K562	blood:

No data

Variant related genes	Relation type
PTGER4	TF binding region
PTGER4	CpG island
ENSG00000171522	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs16870224	0.90[ASN][1000 genomes]
rs4432939	0.97[ASN][1000 genomes]
rs4957341	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880993	chr5:40521648-40682550	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	38 gene(s)	inside rSNPs	diseases
2	nsv880539	chr5:40662257-40713645	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40668600-40677600	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr5:40668800-40677200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr5:40668800-40678600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr5:40669800-40676800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr5:40672000-40678400	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr5:40672400-40677000	Weak transcription	HSMMtube	muscle
7	chr5:40672600-40676200	Enhancers	Dnd41	blood
8	chr5:40672600-40676800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr5:40672600-40678600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr5:40672800-40678600	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr5:40673000-40676600	Weak transcription	Adipose Nuclei	Adipose
12	chr5:40673200-40677200	Weak transcription	Primary B cells from cord blood	blood
13	chr5:40673400-40676600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:40673400-40678600	Weak transcription	Primary B cells from peripheral blood	blood
15	chr5:40673400-40678600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr5:40673600-40676800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr5:40674400-40676800	Enhancers	Duodenum Mucosa	Duodenum
18	chr5:40674600-40677200	Enhancers	NHEK	skin
19	chr5:40674600-40678200	Enhancers	HMEC	breast
20	chr5:40674600-40678600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr5:40674800-40677000	Enhancers	Osteobl	bone
22	chr5:40674800-40677400	Enhancers	Primary T cells fromperipheralblood	blood
23	chr5:40674800-40678400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr5:40674800-40678400	Enhancers	Fetal Thymus	thymus
25	chr5:40675000-40676800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr5:40675000-40677400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr5:40675000-40677600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr5:40675200-40676800	Enhancers	Hela-S3	cervix
29	chr5:40675200-40678800	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr5:40675600-40676200	Enhancers	HSMM	muscle
31	chr5:40675600-40677200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr5:40675600-40678200	Enhancers	Thymus	Thymus
33	chr5:40675800-40676200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
34	chr5:40675800-40676400	Flanking Active TSS	Primary T cells from cord blood	blood
35	chr5:40675800-40676400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr5:40675800-40676400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr5:40675800-40676800	Weak transcription	NH-A	brain
38	chr5:40675800-40677000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr5:40675800-40677400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:40675800-40678400	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr5:40675800-40679000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr5:40676000-40676200	Flanking Active TSS	Primary hematopoietic stem cells	blood
43	chr5:40676000-40676200	Enhancers	Gastric	stomach
44	chr5:40676000-40676400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
45	chr5:40676000-40676800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr5:40676000-40676800	Weak transcription	Stomach Mucosa	stomach
47	chr5:40676000-40677000	Enhancers	Muscle Satellite Cultured Cells	--
48	chr5:40676000-40677000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr5:40676000-40677000	Weak transcription	Small Intestine	intestine
50	chr5:40676000-40677200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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