Variant report

Variant	rs72713229
Chromosome Location	chr1:175877007-175877008
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs72709205	1.00[AMR][1000 genomes]
rs72709207	1.00[AMR][1000 genomes]
rs72709212	1.00[AMR][1000 genomes]
rs72709224	1.00[AMR][1000 genomes]
rs72709226	1.00[AMR][1000 genomes]
rs72709229	1.00[AMR][1000 genomes]
rs72709231	1.00[AMR][1000 genomes]
rs72709236	1.00[AMR][1000 genomes]
rs72709237	1.00[AMR][1000 genomes]
rs72709245	1.00[AMR][1000 genomes]
rs72709250	1.00[AMR][1000 genomes]
rs72709253	1.00[AMR][1000 genomes]
rs72709265	1.00[AMR][1000 genomes]
rs72709270	1.00[AMR][1000 genomes]
rs72709283	1.00[AMR][1000 genomes]
rs72709285	1.00[AMR][1000 genomes]
rs72709287	1.00[AMR][1000 genomes]
rs72709289	1.00[AMR][1000 genomes]
rs72709290	1.00[AMR][1000 genomes]
rs72709292	1.00[AMR][1000 genomes]
rs72709293	1.00[AMR][1000 genomes]
rs72709295	1.00[AMR][1000 genomes]
rs72709296	1.00[AMR][1000 genomes]
rs72709299	1.00[AMR][1000 genomes]
rs72709300	1.00[AMR][1000 genomes]
rs72709302	1.00[AMR][1000 genomes]
rs72711103	1.00[AMR][1000 genomes]
rs72711105	1.00[AMR][1000 genomes]
rs72711106	1.00[AMR][1000 genomes]
rs72711107	1.00[AMR][1000 genomes]
rs72711108	1.00[AMR][1000 genomes]
rs72711110	1.00[AMR][1000 genomes]
rs72711111	1.00[AMR][1000 genomes]
rs72711113	1.00[AMR][1000 genomes]
rs72711116	1.00[AMR][1000 genomes]
rs72711117	1.00[AMR][1000 genomes]
rs72711119	1.00[AMR][1000 genomes]
rs72711120	1.00[AMR][1000 genomes]
rs72711123	1.00[AMR][1000 genomes]
rs72711125	1.00[AMR][1000 genomes]
rs72711126	1.00[AMR][1000 genomes]
rs72711128	1.00[AMR][1000 genomes]
rs72711131	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72711143	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72711146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72711148	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72711151	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72711153	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72711156	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72711158	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72713219	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72713222	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72713225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72713227	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72713231	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72713232	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72713234	0.89[EUR][1000 genomes]
rs72727638	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33328	chr1:175446583-175910001	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	esv1823794	chr1:175869554-176311778	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	esv3344055	chr1:175873040-175887908	Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175855200-175879400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:175855400-175879400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:175857600-175879400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:175858200-175879400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr1:175858800-175879400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr1:175858800-175879400	Weak transcription	HSMMtube	muscle
7	chr1:175859200-175879400	Weak transcription	Fetal Muscle Leg	muscle
8	chr1:175862400-175879400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:175863200-175906400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr1:175863400-175879400	Weak transcription	Primary T cells from cord blood	blood
11	chr1:175864800-175878000	Weak transcription	Fetal Brain Female	brain
12	chr1:175865200-175879400	Weak transcription	Fetal Lung	lung
13	chr1:175865400-175879400	Weak transcription	Fetal Stomach	stomach
14	chr1:175869600-175879400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:175870000-175879400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr1:175870200-175879400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr1:175871400-175878400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:175871400-175879600	Weak transcription	Psoas Muscle	Psoas
19	chr1:175871800-175879400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:175871800-175879400	Weak transcription	Aorta	Aorta
21	chr1:175871800-175879400	Weak transcription	Pancreas	Pancrea
22	chr1:175872800-175879400	Weak transcription	Left Ventricle	heart
23	chr1:175874000-175879400	Weak transcription	Lung	lung
24	chr1:175874400-175945600	Weak transcription	A549	lung
25	chr1:175875000-175882800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:175875600-175879400	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr1:175875800-175879400	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr1:175875800-175879400	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr1:175876000-175879400	Weak transcription	Primary B cells from cord blood	blood
30	chr1:175876200-175877600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:175876400-175879400	Weak transcription	Ovary	ovary
32	chr1:175876600-175877600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:175876800-175877400	Strong transcription	HSMM	muscle
34	chr1:175876800-175879400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr1:175877000-175877800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:175877000-175879600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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