Variant report

Variant	rs73500225
Chromosome Location	chr13:50962789-50962790
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr13:50962680-50962830	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr13:50962551-50963038	SK-N-MC	brain:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:50962761-50962811	HUVEC	blood vessel:	n/a
2	chr13:50962761-50962811	HEEpiC	esophagus:	n/a
3	chr13:50962761-50962811	NHBE	bronchial:	n/a
4	chr13:50962761-50962811	RPTEC	kidney:	n/a
5	chr13:50962761-50962811	Caco-2	colon:	n/a
6	chr13:50962761-50962811	U87	brain:	n/a
7	chr13:50962761-50962811	HMEC	breast:	n/a
8	chr13:50962761-50962811	MCF-7	breast:	n/a
9	chr13:50962761-50962811	Hela-S3	cervix:	n/a
10	chr13:50962761-50962811	SAEC	small airway:	n/a
11	chr13:50962761-50962811	MCF10A-Er-Src	breast:	n/a
12	chr13:50962761-50962811	HNPCEpiC	eye:	n/a
13	chr13:50962761-50962811	HCM	heart:	n/a
14	chr13:50962761-50962811	Hepatocyte	liver:	n/a
15	chr13:50962761-50962811	NH-A	brain:	n/a
16	chr13:50962761-50962811	HPAEpiC	pulmonary alveolar:	n/a
17	chr13:50962761-50962811	AoSMC	blood vessel:	n/a
18	chr13:50962761-50962811	K562	blood:	n/a
19	chr13:50962761-50962811	PrEC	prostate:	n/a
20	chr13:50962761-50962811	CMK	blood:	n/a
21	chr13:50962761-50962811	HRCEpiC	kidney:	n/a
22	chr13:50962761-50962811	A549	lung:	n/a
23	chr13:50962761-50962811	SK-N-SH_RA	brain:	n/a
24	chr13:50962761-50962811	GM06990	blood:	n/a
25	chr13:50962761-50962811	SK-N-MC	brain:	n/a
26	chr13:50962761-50962811	NB4	blood:	n/a
27	chr13:50962761-50962811	IMR90	lung:	fetal
28	chr13:50962761-50962811	AG09309	skin:	n/a
29	chr13:50962761-50962811	Jurkat	blood:	n/a
30	chr13:50962761-50962811	NHDF-neo	bronchial:	n/a
31	chr13:50962761-50962811	PANC-1	pancreas:	n/a
32	chr13:50962761-50962811	AG04449	skin:	fetal
33	chr13:50962761-50962811	H1-hESC	embryonic stem cell:	embryo
34	chr13:50962761-50962811	GM12892	blood:	n/a
35	chr13:50962761-50962811	AG10803	skin:	n/a
36	chr13:50962761-50962811	AG04450	lung:	fetal
37	chr13:50962761-50962811	HCT-116	colon:	n/a
38	chr13:50962761-50962811	HRPEpiC	eye:	n/a
39	chr13:50962761-50962811	HCF	heart:	n/a
40	chr13:50962761-50962811	LNCaP	prostate:	n/a
41	chr13:50962761-50962811	BJ	skin:	n/a
42	chr13:50962761-50962811	SK-N-SH	brain:	n/a
43	chr13:50962761-50962811	ovcar-3	ovarian:	n/a
44	chr13:50962761-50962811	HL-60	blood:	n/a
45	chr13:50962761-50962811	GM19239	blood:	n/a
46	chr13:50962761-50962811	GM12891	blood:	n/a
47	chr13:50962761-50962811	HAEpiC	amniotic membrane:	n/a
48	chr13:50962761-50962811	HepG2	liver:	n/a
49	chr13:50962761-50962811	BE2_C	brain:	n/a
50	chr13:50962761-50962811	HEK293	kidney:	embryo

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:50891858..50893890-chr13:50960724..50962841,2	K562	blood:

No data

Variant related genes	Relation type
DLEU1	TF binding region
DLEU1	CpG island

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs1149854	1.00[EUR][1000 genomes]
rs1149855	1.00[EUR][1000 genomes]
rs1149856	1.00[EUR][1000 genomes]
rs2762044	1.00[EUR][1000 genomes]
rs2762062	1.00[EUR][1000 genomes]
rs55929963	1.00[EUR][1000 genomes]
rs55987657	1.00[EUR][1000 genomes]
rs56222340	1.00[EUR][1000 genomes]
rs56277884	1.00[EUR][1000 genomes]
rs56285935	1.00[EUR][1000 genomes]
rs57723811	1.00[EUR][1000 genomes]
rs57938299	1.00[EUR][1000 genomes]
rs58111567	1.00[AMR][1000 genomes]
rs58214088	1.00[EUR][1000 genomes]
rs58521176	1.00[EUR][1000 genomes]
rs58911842	1.00[EUR][1000 genomes]
rs59137919	1.00[EUR][1000 genomes]
rs59563441	1.00[EUR][1000 genomes]
rs59729773	1.00[EUR][1000 genomes]
rs59951137	1.00[EUR][1000 genomes]
rs60147627	1.00[EUR][1000 genomes]
rs60154020	1.00[EUR][1000 genomes]
rs61382687	1.00[EUR][1000 genomes]
rs61495306	1.00[EUR][1000 genomes]
rs7324132	1.00[EUR][1000 genomes]
rs7337343	1.00[EUR][1000 genomes]
rs73483957	1.00[EUR][1000 genomes]
rs73483973	1.00[EUR][1000 genomes]
rs73494087	1.00[EUR][1000 genomes]
rs73495815	1.00[EUR][1000 genomes]
rs73495825	1.00[EUR][1000 genomes]
rs73495852	1.00[EUR][1000 genomes]
rs73495865	1.00[EUR][1000 genomes]
rs73495869	1.00[EUR][1000 genomes]
rs73495873	1.00[EUR][1000 genomes]
rs73495880	1.00[EUR][1000 genomes]
rs73495885	1.00[EUR][1000 genomes]
rs73495888	1.00[EUR][1000 genomes]
rs73495900	1.00[EUR][1000 genomes]
rs73498015	1.00[EUR][1000 genomes]
rs73498022	1.00[EUR][1000 genomes]
rs73498030	1.00[EUR][1000 genomes]
rs73498061	1.00[EUR][1000 genomes]
rs73498091	1.00[EUR][1000 genomes]
rs73498093	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73498096	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73500213	1.00[EUR][1000 genomes]
rs73500236	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73500241	1.00[EUR][1000 genomes]
rs73500242	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73500246	1.00[EUR][1000 genomes]
rs73500250	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73500259	1.00[EUR][1000 genomes]
rs73500262	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73500270	1.00[EUR][1000 genomes]
rs73500278	1.00[EUR][1000 genomes]
rs73500279	1.00[EUR][1000 genomes]
rs73500287	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73500290	1.00[EUR][1000 genomes]
rs73500300	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73500302	1.00[EUR][1000 genomes]
rs73502108	1.00[EUR][1000 genomes]
rs73502118	1.00[EUR][1000 genomes]
rs73502137	1.00[EUR][1000 genomes]
rs74079205	1.00[EUR][1000 genomes]
rs74079217	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74079242	1.00[EUR][1000 genomes]
rs7981983	1.00[EUR][1000 genomes]
rs7990648	1.00[EUR][1000 genomes]
rs7992035	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7996036	1.00[EUR][1000 genomes]
rs8001263	1.00[AMR][1000 genomes]
rs9591331	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	esv2752608	chr13:50550099-51054499	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1249 gene(s)	inside rSNPs	diseases
5	nsv832609	chr13:50946577-51065968	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50950400-50967200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:50958600-50962800	Enhancers	Fetal Thymus	thymus
3	chr13:50959800-50963000	Enhancers	H1 Cell Line	embryonic stem cell
4	chr13:50960000-50965000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr13:50960400-50965000	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr13:50960600-50965000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr13:50961200-50964000	Weak transcription	HepG2	liver
8	chr13:50961200-50965400	Enhancers	HUVEC	blood vessel
9	chr13:50961400-50963000	Enhancers	H9 Cell Line	embryonic stem cell
10	chr13:50961400-50963000	Enhancers	Fetal Muscle Leg	muscle
11	chr13:50961400-50964800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr13:50961600-50963600	Weak transcription	Adipose Nuclei	Adipose
13	chr13:50961600-50963600	Weak transcription	Fetal Stomach	stomach
14	chr13:50961600-50964000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr13:50961600-50964000	Weak transcription	Lung	lung
16	chr13:50961600-50964200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr13:50961600-50964400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr13:50961600-50965000	Weak transcription	Pancreas	Pancrea
19	chr13:50961600-50966400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr13:50961600-50967600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr13:50961600-50967600	Weak transcription	Aorta	Aorta
22	chr13:50961600-50967800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr13:50961600-50967800	Weak transcription	Brain Hippocampus Middle	brain
24	chr13:50961600-50973800	Weak transcription	Brain Substantia Nigra	brain
25	chr13:50961600-50974200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr13:50961600-50974200	Weak transcription	Osteobl	bone
27	chr13:50961600-50974600	Weak transcription	Right Atrium	heart
28	chr13:50961800-50962800	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr13:50961800-50963600	Weak transcription	Left Ventricle	heart
30	chr13:50961800-50963600	Weak transcription	K562	blood
31	chr13:50961800-50963800	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr13:50961800-50964000	Weak transcription	Fetal Lung	lung
33	chr13:50961800-50964800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr13:50961800-50967000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr13:50961800-50967000	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr13:50961800-50967200	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr13:50961800-50974200	Weak transcription	Psoas Muscle	Psoas
38	chr13:50962000-50963000	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr13:50962000-50964400	Weak transcription	Liver	Liver
40	chr13:50962000-50964400	Weak transcription	Fetal Heart	heart
41	chr13:50962200-50965000	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr13:50962400-50962800	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr13:50962400-50964000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr13:50962400-50967800	Weak transcription	Fetal Muscle Trunk	muscle
45	chr13:50962400-50968000	Weak transcription	HSMM	muscle
46	chr13:50962600-50962800	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr13:50962600-50962800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr13:50962600-50962800	Enhancers	Fetal Kidney	kidney
49	chr13:50962600-50962800	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr13:50962600-50963000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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