Variant report

Variant	rs4415571
Chromosome Location	chr1:222990653-222990654
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11487817	1.00[CEU][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11487861	1.00[CEU][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11597	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17163510	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17163518	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17163525	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28362013	1.00[YRI][hapmap]
rs35271605	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35530937	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35980718	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4609435	1.00[YRI][hapmap]
rs61838109	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61839585	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61839590	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61839593	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61839607	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61839609	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61839610	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61839658	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61839659	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61840262	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61840269	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61840288	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61840295	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9441849	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9441937	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv873206	chr1:222985197-223124916	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222989000-222990800	Weak transcription	Small Intestine	intestine
2	chr1:222989000-222999200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:222989200-222990800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:222989200-222990800	Weak transcription	Primary B cells from peripheral blood	blood
5	chr1:222989200-222990800	Weak transcription	Aorta	Aorta
6	chr1:222989200-222991000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:222989200-222991000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:222989200-222991400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:222989200-222991400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr1:222989200-222992400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:222989200-222992400	Weak transcription	Ovary	ovary
12	chr1:222989200-222992400	Enhancers	Rectal Smooth Muscle	rectum
13	chr1:222989200-222993000	Weak transcription	Fetal Thymus	thymus
14	chr1:222989200-222994000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr1:222989200-222997600	Weak transcription	Fetal Brain Male	brain
16	chr1:222989200-222999000	Weak transcription	Lung	lung
17	chr1:222989400-222990800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr1:222989400-222990800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:222989400-222990800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr1:222989400-222990800	Weak transcription	A549	lung
21	chr1:222989400-222991000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr1:222989400-222991000	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr1:222989400-222991000	Enhancers	HepG2	liver
24	chr1:222989400-222991200	Enhancers	Fetal Intestine Large	intestine
25	chr1:222989400-222991800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:222989400-222991800	Enhancers	HUVEC	blood vessel
27	chr1:222989400-222992000	Enhancers	Fetal Lung	lung
28	chr1:222989400-222992000	Enhancers	NHDF-Ad	bronchial
29	chr1:222989400-222993800	Weak transcription	Adipose Nuclei	Adipose
30	chr1:222989400-222996800	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr1:222989400-222999000	Weak transcription	Stomach Mucosa	stomach
32	chr1:222989400-223002800	Weak transcription	Fetal Intestine Small	intestine
33	chr1:222989400-223026800	Weak transcription	Fetal Muscle Leg	muscle
34	chr1:222989600-222990800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr1:222989600-222991000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr1:222989800-222990800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr1:222989800-222991000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:222989800-222991000	Enhancers	Fetal Brain Female	brain
39	chr1:222989800-222991200	Weak transcription	Stomach Smooth Muscle	stomach
40	chr1:222989800-222991400	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr1:222989800-222992200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:222989800-222992400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr1:222989800-222992400	Enhancers	Hela-S3	cervix
44	chr1:222989800-222992400	Enhancers	Osteobl	bone
45	chr1:222990000-222990800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr1:222990000-222991200	Enhancers	Dnd41	blood
47	chr1:222990000-222991400	Weak transcription	Liver	Liver
48	chr1:222990000-222992000	Enhancers	Muscle Satellite Cultured Cells	--
49	chr1:222990000-222992400	Enhancers	Colon Smooth Muscle	Colon
50	chr1:222990200-222990800	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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