Variant report

Variant	rs73607945
Chromosome Location	chr8:20112824-20112825
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:20112813-20112863	HCF	heart:	n/a
2	chr8:20112813-20112863	RPTEC	kidney:	n/a
3	chr8:20112813-20112863	HCT-116	colon:	n/a
4	chr8:20112813-20112863	Caco-2	colon:	n/a
5	chr8:20112813-20112863	HRE	kidney:	n/a
6	chr8:20112813-20112863	BE2_C	brain:	n/a
7	chr8:20112813-20112863	HCM	heart:	n/a
8	chr8:20112813-20112863	IMR90	lung:	fetal
9	chr8:20112813-20112863	GM12891	blood:	n/a
10	chr8:20112813-20112863	HL-60	blood:	n/a
11	chr8:20112813-20112863	A549	lung:	n/a
12	chr8:20112813-20112863	LNCaP	prostate:	n/a
13	chr8:20112813-20112863	GM19239	blood:	n/a
14	chr8:20112813-20112863	AG04450	lung:	fetal
15	chr8:20112813-20112863	BJ	skin:	n/a
16	chr8:20112813-20112863	HRCEpiC	kidney:	n/a
17	chr8:20112813-20112863	HepG2	liver:	n/a
18	chr8:20112813-20112863	HPAEpiC	pulmonary alveolar:	n/a
19	chr8:20112813-20112863	Hepatocyte	liver:	n/a
20	chr8:20112813-20112863	GM06990	blood:	n/a
21	chr8:20112813-20112863	AG09319	gingival:	n/a
22	chr8:20112813-20112863	MCF-7	breast:	n/a
23	chr8:20112813-20112863	HIPEpiC	eye:	n/a
24	chr8:20112813-20112863	SK-N-SH_RA	brain:	n/a
25	chr8:20112813-20112863	HMEC	breast:	n/a
26	chr8:20112813-20112863	HRPEpiC	eye:	n/a
27	chr8:20112813-20112863	NT2-D1	testis:	n/a
28	chr8:20112813-20112863	GM12892	blood:	n/a
29	chr8:20112813-20112863	NB4	blood:	n/a
30	chr8:20112813-20112863	PANC-1	pancreas:	n/a
31	chr8:20112813-20112863	NH-A	brain:	n/a
32	chr8:20112813-20112863	SKMC	muscle:	n/a
33	chr8:20112813-20112863	AG04449	skin:	fetal
34	chr8:20112813-20112863	T-47D	breast:	n/a
35	chr8:20112813-20112863	CMK	blood:	n/a
36	chr8:20112813-20112863	GM12878	blood:	n/a
37	chr8:20112813-20112863	ProgFib	skin:	n/a
38	chr8:20112813-20112863	PFSK-1	brain:	n/a
39	chr8:20112813-20112863	AG09309	skin:	n/a
40	chr8:20112813-20112863	SK-N-SH	brain:	n/a
41	chr8:20112813-20112863	H1-hESC	embryonic stem cell:	embryo
42	chr8:20112813-20112863	Hela-S3	cervix:	n/a
43	chr8:20112813-20112863	K562	blood:	n/a
44	chr8:20112813-20112863	ECC-1	luminal epithelium:	n/a
45	chr8:20112813-20112863	MCF10A-Er-Src	breast:	n/a
46	chr8:20112813-20112863	HNPCEpiC	eye:	n/a
47	chr8:20112813-20112863	U87	brain:	n/a
48	chr8:20112813-20112863	HCPEpiC	choroid plexus:	n/a
49	chr8:20112813-20112863	AG10803	skin:	n/a
50	chr8:20112813-20112863	ovcar-3	ovarian:	n/a

No data

Variant related genes	Relation type
LZTS1	CpG island

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs59995861	0.93[EUR][1000 genomes]
rs73603978	0.82[EUR][1000 genomes]
rs73603980	0.82[EUR][1000 genomes]
rs73603982	0.85[EUR][1000 genomes]
rs73603990	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73603996	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73604002	0.93[EUR][1000 genomes]
rs73605915	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73607942	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73607943	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73607954	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7812424	0.93[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	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 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	chr8:20096800-20119400	Weak transcription	Right Atrium	heart
2	chr8:20102400-20118800	Weak transcription	NH-A	brain
3	chr8:20103000-20113200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:20103000-20119400	Strong transcription	Dnd41	blood
5	chr8:20103400-20113000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr8:20103600-20113000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:20104200-20118800	Weak transcription	Fetal Intestine Large	intestine
8	chr8:20105400-20114800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr8:20106000-20114200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:20106200-20119800	Weak transcription	Osteobl	bone
11	chr8:20106400-20113000	Strong transcription	Fetal Brain Female	brain
12	chr8:20108400-20125200	Weak transcription	Fetal Intestine Small	intestine
13	chr8:20108600-20113000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr8:20109800-20113000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
15	chr8:20110200-20118400	Weak transcription	Fetal Lung	lung
16	chr8:20110200-20119000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr8:20110400-20113400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr8:20110400-20113400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr8:20110400-20114800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr8:20110600-20113000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr8:20110600-20116200	Weak transcription	HSMM	muscle
22	chr8:20110800-20113200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr8:20110800-20119400	Weak transcription	Thymus	Thymus
24	chr8:20110800-20120000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr8:20111000-20113000	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr8:20111000-20113000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr8:20111200-20118000	Weak transcription	Esophagus	oesophagus
28	chr8:20111400-20113200	Genic enhancers	Fetal Muscle Leg	muscle
29	chr8:20111400-20122000	Weak transcription	Gastric	stomach
30	chr8:20111600-20113200	Enhancers	Brain Anterior Caudate	brain
31	chr8:20111600-20119200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr8:20111800-20113000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr8:20111800-20113000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
34	chr8:20111800-20113200	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr8:20111800-20113200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr8:20111800-20113200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
37	chr8:20112200-20113200	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr8:20112200-20113200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
39	chr8:20112400-20114200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr8:20112600-20113000	Bivalent Enhancer	Duodenum Mucosa	Duodenum
41	chr8:20112600-20113200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr8:20112600-20113200	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr8:20112600-20116000	Weak transcription	Brain Germinal Matrix	brain
44	chr8:20112600-20117600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr8:20112600-20117800	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr8:20112600-20119000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr8:20112600-20120400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr8:20112800-20113000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr8:20112800-20118400	Weak transcription	Fetal Thymus	thymus
50	chr8:20112800-20118600	Weak transcription	Placenta	Placenta

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