Variant report

Variant	rs541375534
Chromosome Location	chr5:44806966-44806967
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr5:44806568-44806971	MCF10A-Er-Src	breast:	n/a	n/a
2	ATF1	chr5:44806365-44807047	K562	blood:	n/a	n/a
3	SMC3	chr5:44806928-44807728	Hela-S3	cervix:	n/a	n/a
4	ELK1	chr5:44806916-44807071	Hela-S3	cervix:	n/a	n/a
5	GTF2F1	chr5:44806588-44807717	Hela-S3	cervix:	n/a	n/a
6	MAFK	chr5:44806944-44807040	Hela-S3	cervix:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:44806923-44806973	SK-N-MC	brain:	n/a
2	chr5:44806923-44806973	HCPEpiC	choroid plexus:	n/a
3	chr5:44806923-44806973	HepG2	liver:	n/a
4	chr5:44806923-44806973	Jurkat	blood:	n/a
5	chr5:44806923-44806973	GM19239	blood:	n/a
6	chr5:44806923-44806973	GM12892	blood:	n/a
7	chr5:44806923-44806973	RPTEC	kidney:	n/a
8	chr5:44806923-44806973	HRPEpiC	eye:	n/a
9	chr5:44806923-44806973	Hela-S3	cervix:	n/a
10	chr5:44806923-44806973	U87	brain:	n/a
11	chr5:44806923-44806973	HUVEC	blood vessel:	n/a
12	chr5:44806923-44806973	AG04449	skin:	fetal
13	chr5:44806923-44806973	H1-hESC	embryonic stem cell:	embryo
14	chr5:44806923-44806973	SAEC	small airway:	n/a
15	chr5:44806923-44806973	HRCEpiC	kidney:	n/a
16	chr5:44806923-44806973	ProgFib	skin:	n/a
17	chr5:44806923-44806973	MCF10A-Er-Src	breast:	n/a
18	chr5:44806923-44806973	BJ	skin:	n/a
19	chr5:44806923-44806973	HMEC	breast:	n/a
20	chr5:44806923-44806973	HAEpiC	amniotic membrane:	n/a
21	chr5:44806923-44806973	GM12878	blood:	n/a
22	chr5:44806923-44806973	NHDF-neo	bronchial:	n/a
23	chr5:44806923-44806973	Caco-2	colon:	n/a
24	chr5:44806923-44806973	ovcar-3	ovarian:	n/a
25	chr5:44806923-44806973	SK-N-SH	brain:	n/a
26	chr5:44806923-44806973	HCF	heart:	n/a
27	chr5:44806923-44806973	GM06990	blood:	n/a
28	chr5:44806923-44806973	NB4	blood:	n/a
29	chr5:44806923-44806973	NT2-D1	testis:	n/a
30	chr5:44806923-44806973	BE2_C	brain:	n/a
31	chr5:44806923-44806973	PANC-1	pancreas:	n/a
32	chr5:44806923-44806973	LNCaP	prostate:	n/a
33	chr5:44806923-44806973	MCF-7	breast:	n/a
34	chr5:44806923-44806973	K562	blood:	n/a
35	chr5:44806923-44806973	AG09319	gingival:	n/a
36	chr5:44806923-44806973	AG10803	skin:	n/a
37	chr5:44806923-44806973	SKMC	muscle:	n/a
38	chr5:44806923-44806973	AG04450	lung:	fetal
39	chr5:44806923-44806973	NHBE	bronchial:	n/a
40	chr5:44806923-44806973	HCT-116	colon:	n/a
41	chr5:44806923-44806973	HCM	heart:	n/a
42	chr5:44806923-44806973	PFSK-1	brain:	n/a
43	chr5:44806923-44806973	HL-60	blood:	n/a
44	chr5:44806923-44806973	PrEC	prostate:	n/a
45	chr5:44806923-44806973	T-47D	breast:	n/a
46	chr5:44806923-44806973	NH-A	brain:	n/a
47	chr5:44806923-44806973	A549	lung:	n/a
48	chr5:44806923-44806973	HEEpiC	esophagus:	n/a
49	chr5:44806923-44806973	HPAEpiC	pulmonary alveolar:	n/a
50	chr5:44806923-44806973	SK-N-SH_RA	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:43119582..43121268-chr5:44806761..44809128,2	K562	blood:

No data

Variant related genes	Relation type
MRPS30	TF binding region
MRPS30	CpG island
ENSG00000172262	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830279	chr5:44688175-44860815	Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv1027897	chr5:44695278-45061623	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
3	nsv597933	chr5:44740989-44810740	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	n/a
4	nsv880712	chr5:44777878-44842260	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
5	nsv881564	chr5:44783255-44914579	Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
6	nsv881629	chr5:44796042-44836788	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
7	nsv881184	chr5:44796042-44842260	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
8	nsv881280	chr5:44800665-44821736	Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	n/a
9	nsv880618	chr5:44800665-44836788	Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
10	nsv881418	chr5:44800665-44869100	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
11	nsv880397	chr5:44800665-44939293	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
12	nsv462127	chr5:44803749-44834233	Active TSS Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
13	nsv597934	chr5:44803749-44834233	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
14	nsv880838	chr5:44805926-44836788	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
15	nsv881498	chr5:44805926-44842260	Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:44794200-44808600	Weak transcription	Aorta	Aorta
2	chr5:44802200-44807800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr5:44805400-44807400	Flanking Active TSS	Hela-S3	cervix
4	chr5:44806200-44807200	Enhancers	K562	blood
5	chr5:44806400-44807000	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr5:44806400-44807200	Enhancers	Brain Anterior Caudate	brain
7	chr5:44806400-44807200	Weak transcription	Fetal Lung	lung
8	chr5:44806400-44809000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:44806600-44808400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:44806800-44807200	Enhancers	Dnd41	blood
11	chr5:44806800-44807400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:44806800-44807400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr5:44806800-44807600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr5:44806800-44807800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:44806800-44808000	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr5:44806800-44808200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr5:44806800-44808600	Enhancers	NHEK	skin

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