Variant report

Variant	rs56250189
Chromosome Location	chr1:225803307-225803308
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12564648	0.81[EUR][1000 genomes]
rs12564687	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12565399	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12566165	0.81[EUR][1000 genomes]
rs12568642	0.86[EUR][1000 genomes]
rs16845030	0.81[EUR][1000 genomes]
rs16845040	0.86[EUR][1000 genomes]
rs1841655	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2657568	0.92[EUR][1000 genomes]
rs2840960	0.92[EUR][1000 genomes]
rs55899644	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58088270	0.92[EUR][1000 genomes]
rs6665838	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7544335	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7548206	0.87[AMR][1000 genomes];0.86[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	nsv832714	chr1:225592333-225805396	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv832725	chr1:225726998-225910121	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225760000-225820600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:225768800-225805600	Weak transcription	Aorta	Aorta
3	chr1:225780800-225815400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:225781000-225825400	Weak transcription	Fetal Stomach	stomach
5	chr1:225782400-225806200	Weak transcription	Right Ventricle	heart
6	chr1:225784200-225807800	Weak transcription	Fetal Brain Male	brain
7	chr1:225792000-225805000	Weak transcription	NHDF-Ad	bronchial
8	chr1:225793600-225813200	Weak transcription	Left Ventricle	heart
9	chr1:225793600-225813800	Weak transcription	NH-A	brain
10	chr1:225794600-225813200	Weak transcription	Lung	lung
11	chr1:225795000-225806000	Weak transcription	Small Intestine	intestine
12	chr1:225795600-225805000	Weak transcription	HSMMtube	muscle
13	chr1:225795600-225805400	Weak transcription	NHLF	lung
14	chr1:225795600-225813200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:225795600-225813200	Weak transcription	Psoas Muscle	Psoas
16	chr1:225795600-225813800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr1:225796400-225810200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:225796400-225812600	Weak transcription	Right Atrium	heart
19	chr1:225796600-225812200	Weak transcription	Fetal Muscle Trunk	muscle
20	chr1:225797200-225806200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr1:225797200-225815200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr1:225797400-225812600	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr1:225797400-225814000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr1:225797600-225804400	Weak transcription	Fetal Heart	heart
25	chr1:225798600-225804600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:225798800-225805000	Weak transcription	HSMM	muscle
27	chr1:225798800-225806200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr1:225798800-225808800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr1:225800200-225805000	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr1:225800200-225805200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:225800200-225812600	Weak transcription	Gastric	stomach
32	chr1:225800400-225805600	Weak transcription	Adipose Nuclei	Adipose
33	chr1:225800800-225804400	Weak transcription	Colon Smooth Muscle	Colon
34	chr1:225801000-225805400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr1:225801200-225804800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:225801200-225806000	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr1:225801200-225806000	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr1:225801400-225804800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr1:225801600-225805000	Weak transcription	Fetal Lung	lung
40	chr1:225801600-225805000	Weak transcription	HepG2	liver
41	chr1:225801600-225809600	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr1:225801600-225813600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr1:225802400-225805000	Weak transcription	Stomach Mucosa	stomach
44	chr1:225802400-225805800	Weak transcription	Ovary	ovary
45	chr1:225802600-225804400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr1:225802600-225805000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:225802600-225805200	Weak transcription	Osteobl	bone
48	chr1:225802600-225805400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr1:225802600-225805400	Weak transcription	Brain Cingulate Gyrus	brain
50	chr1:225802600-225805600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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