Variant report

Variant	rs2073946
Chromosome Location	chr22:30619599-30619600
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30619180..30621137-chr22:30621578..30624236,2	K562	blood:
2	chr22:30619504..30622995-chr22:30623297..30627180,5	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11089441	0.89[ASW][hapmap];1.00[LWK][hapmap]
rs11089442	1.00[LWK][hapmap]
rs11704358	1.00[LWK][hapmap]
rs13054238	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16988402	0.80[ASN][1000 genomes]
rs2078856	0.80[ASN][1000 genomes]
rs2839998	1.00[LWK][hapmap]
rs3753082	0.94[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs67087719	0.80[ASN][1000 genomes]
rs8141656	1.00[LWK][hapmap]
rs929271	1.00[ASW][hapmap];0.95[CEU][hapmap];0.83[CHB][hapmap];0.96[GIH][hapmap];1.00[LWK][hapmap];0.95[TSI][hapmap];0.94[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs929272	0.95[CEU][hapmap]
rs929273	0.82[CEU][hapmap];0.87[CHB][hapmap];0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs9606708	0.89[ASW][hapmap];1.00[LWK][hapmap]
rs9619096	1.00[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv834173	chr22:30515092-30658277	Enhancers ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv432239	chr22:30580161-30669883	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
6	nsv914968	chr22:30610570-30693581	Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv914969	chr22:30619599-30691631	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
8	nsv914970	chr22:30619599-30850395	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2073946	LRP5L	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30605600-30622600	Weak transcription	Right Atrium	heart
2	chr22:30611200-30624800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr22:30614400-30624800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr22:30614600-30620000	Weak transcription	HSMMtube	muscle
5	chr22:30614600-30620400	Weak transcription	NHLF	lung
6	chr22:30615400-30619600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr22:30615400-30626000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr22:30615600-30619600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr22:30615600-30619600	Weak transcription	HMEC	breast
10	chr22:30615600-30627000	Weak transcription	K562	blood
11	chr22:30615800-30620200	Enhancers	Fetal Thymus	thymus
12	chr22:30616000-30621000	Enhancers	Primary B cells from cord blood	blood
13	chr22:30617400-30619600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr22:30617400-30620400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr22:30617400-30621800	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr22:30617400-30624000	Enhancers	Primary T cells fromperipheralblood	blood
17	chr22:30617600-30622000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr22:30617800-30621800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr22:30618000-30619600	Enhancers	Dnd41	blood
20	chr22:30618000-30619800	Weak transcription	Duodenum Mucosa	Duodenum
21	chr22:30618000-30620400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr22:30618000-30622600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr22:30618000-30623600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr22:30618000-30625000	Weak transcription	Esophagus	oesophagus
25	chr22:30618200-30621000	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr22:30618200-30623600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr22:30618400-30619600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr22:30618400-30619600	Bivalent Enhancer	Placenta	Placenta
29	chr22:30618400-30620200	Weak transcription	GM12878-XiMat	blood
30	chr22:30618400-30621200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr22:30618600-30620400	Enhancers	A549	lung
32	chr22:30618600-30620800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr22:30618600-30622800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr22:30618800-30619600	Bivalent Enhancer	Fetal Stomach	stomach
35	chr22:30619000-30620600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr22:30619000-30620800	Bivalent Enhancer	HepG2	liver
37	chr22:30619000-30621200	Enhancers	Primary B cells from peripheral blood	blood
38	chr22:30619000-30622200	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr22:30619200-30619600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr22:30619200-30619600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
41	chr22:30619200-30619600	Bivalent Enhancer	Fetal Muscle Leg	muscle
42	chr22:30619200-30619600	Enhancers	Ovary	ovary
43	chr22:30619200-30619800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr22:30619200-30619800	Enhancers	Spleen	Spleen
45	chr22:30619200-30621000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr22:30619200-30621000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
47	chr22:30619200-30621000	Enhancers	Osteobl	bone
48	chr22:30619200-30621200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr22:30619200-30621200	Enhancers	NH-A	brain
50	chr22:30619200-30622000	Enhancers	Primary hematopoietic stem cells short term culture	blood

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