Variant report

Variant	rs73265480
Chromosome Location	chr5:115153225-115153226
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr5:115153015-115153295	A549	lung:	n/a	n/a
2	MYC	chr5:115153189-115153381	MCF10A-Er-Src	breast:	n/a	n/a
3	CEBPB	chr5:115152975-115153282	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr5:115152974-115153291	HepG2	liver:	n/a	n/a
5	CEBPB	chr5:115152957-115153319	IMR90	lung:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:115153223-115153273	PrEC	prostate:	n/a
2	chr5:115153223-115153273	HepG2	liver:	n/a
3	chr5:115153223-115153273	PFSK-1	brain:	n/a
4	chr5:115153223-115153273	AG09319	gingival:	n/a
5	chr5:115153223-115153273	HMEC	breast:	n/a
6	chr5:115153223-115153273	T-47D	breast:	n/a
7	chr5:115153223-115153273	SK-N-MC	brain:	n/a
8	chr5:115153223-115153273	BJ	skin:	n/a
9	chr5:115153223-115153273	LNCaP	prostate:	n/a
10	chr5:115153223-115153273	HIPEpiC	eye:	n/a
11	chr5:115153223-115153273	NHDF-neo	bronchial:	n/a
12	chr5:115153223-115153273	HCM	heart:	n/a
13	chr5:115153223-115153273	NH-A	brain:	n/a
14	chr5:115153223-115153273	U87	brain:	n/a
15	chr5:115153223-115153273	SKMC	muscle:	n/a
16	chr5:115153223-115153273	A549	lung:	n/a
17	chr5:115153223-115153273	GM12891	blood:	n/a
18	chr5:115153223-115153273	RPTEC	kidney:	n/a
19	chr5:115153223-115153273	SK-N-SH_RA	brain:	n/a
20	chr5:115153223-115153273	H1-hESC	embryonic stem cell:	embryo
21	chr5:115153223-115153273	CMK	blood:	n/a
22	chr5:115153223-115153273	K562	blood:	n/a
23	chr5:115153223-115153273	GM19239	blood:	n/a
24	chr5:115153223-115153273	ovcar-3	ovarian:	n/a
25	chr5:115153223-115153273	HUVEC	blood vessel:	n/a
26	chr5:115153223-115153273	HEK293	kidney:	embryo
27	chr5:115153223-115153273	AG10803	skin:	n/a
28	chr5:115153223-115153273	Hela-S3	cervix:	n/a
29	chr5:115153223-115153273	HEEpiC	esophagus:	n/a
30	chr5:115153223-115153273	HRCEpiC	kidney:	n/a
31	chr5:115153223-115153273	Hepatocyte	liver:	n/a
32	chr5:115153223-115153273	HNPCEpiC	eye:	n/a
33	chr5:115153223-115153273	NT2-D1	testis:	n/a
34	chr5:115153223-115153273	HAEpiC	amniotic membrane:	n/a
35	chr5:115153223-115153273	HRPEpiC	eye:	n/a
36	chr5:115153223-115153273	HCF	heart:	n/a
37	chr5:115153223-115153273	NHBE	bronchial:	n/a
38	chr5:115153223-115153273	HCT-116	colon:	n/a
39	chr5:115153223-115153273	SK-N-SH	brain:	n/a
40	chr5:115153223-115153273	GM12892	blood:	n/a
41	chr5:115153223-115153273	AG04449	skin:	fetal
42	chr5:115153223-115153273	HPAEpiC	pulmonary alveolar:	n/a
43	chr5:115153223-115153273	AG04450	lung:	fetal
44	chr5:115153223-115153273	AG09309	skin:	n/a
45	chr5:115153223-115153273	HL-60	blood:	n/a
46	chr5:115153223-115153273	HRE	kidney:	n/a
47	chr5:115153223-115153273	GM12878	blood:	n/a
48	chr5:115153223-115153273	SAEC	small airway:	n/a
49	chr5:115153223-115153273	NB4	blood:	n/a
50	chr5:115153223-115153273	Jurkat	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:115147173..115150653-chr5:115151450..115154733,4	K562	blood:

No data

Variant related genes	Relation type
CDO1	TF binding region
CDO1	CpG island
ENSG00000129596	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10036657	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10052079	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10054972	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10058994	1.00[EUR][1000 genomes]
rs10059199	1.00[EUR][1000 genomes]
rs10067222	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10070325	1.00[EUR][1000 genomes]
rs10074061	1.00[EUR][1000 genomes]
rs10074066	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10075816	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10478262	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10519428	1.00[EUR][1000 genomes]
rs10519429	1.00[EUR][1000 genomes]
rs11959669	1.00[EUR][1000 genomes]
rs17138236	1.00[EUR][1000 genomes]
rs1968365	1.00[EUR][1000 genomes]
rs28420368	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4920893	1.00[EUR][1000 genomes]
rs4921029	1.00[EUR][1000 genomes]
rs4921030	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6861998	1.00[EUR][1000 genomes]
rs6872587	1.00[EUR][1000 genomes]
rs6875708	1.00[EUR][1000 genomes]
rs73257802	1.00[EUR][1000 genomes]
rs73265491	1.00[EUR][1000 genomes]
rs73780683	1.00[EUR][1000 genomes]
rs9326975	1.00[EUR][1000 genomes]
rs9654524	1.00[EUR][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	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv949677	chr5:115104829-115496168	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115150800-115153400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr5:115152400-115153400	Active TSS	Brain Cingulate Gyrus	brain
3	chr5:115152800-115154200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:115152800-115154200	Weak transcription	Brain Angular Gyrus	brain
5	chr5:115152800-115154200	Weak transcription	Brain Hippocampus Middle	brain
6	chr5:115152800-115154200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr5:115152800-115154400	Weak transcription	Brain Substantia Nigra	brain
8	chr5:115152800-115171200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr5:115153000-115153400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
10	chr5:115153000-115153400	Enhancers	H1 Cell Line	embryonic stem cell
11	chr5:115153000-115153400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:115153000-115153400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:115153000-115153400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
14	chr5:115153000-115153400	Enhancers	Adipose Nuclei	Adipose
15	chr5:115153000-115153400	Flanking Active TSS	Liver	Liver
16	chr5:115153000-115153600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr5:115153000-115153600	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr5:115153000-115154800	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr5:115153000-115156000	Weak transcription	Right Atrium	heart
20	chr5:115153200-115153400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
21	chr5:115153200-115153400	Flanking Active TSS	Brain Anterior Caudate	brain
22	chr5:115153200-115153400	Flanking Active TSS	Brain Germinal Matrix	brain
23	chr5:115153200-115153400	Flanking Active TSS	Fetal Brain Male	brain
24	chr5:115153200-115153400	Flanking Active TSS	Fetal Kidney	kidney
25	chr5:115153200-115153400	Flanking Bivalent TSS/Enh	Fetal Lung	lung
26	chr5:115153200-115153600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr5:115153200-115169600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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