Variant report

Variant	rs72704995
Chromosome Location	chr1:158999119-158999120
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs41264141	0.94[AMR][1000 genomes]
rs41264447	0.94[AMR][1000 genomes]
rs55762293	0.94[AMR][1000 genomes]
rs55783705	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55940565	0.94[AMR][1000 genomes]
rs56046690	0.94[AMR][1000 genomes]
rs56077216	0.82[AMR][1000 genomes]
rs56208680	0.94[AMR][1000 genomes]
rs56387666	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56390355	0.93[EUR][1000 genomes]
rs61533256	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62621173	0.94[AMR][1000 genomes]
rs72704983	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72704986	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72709518	0.94[AMR][1000 genomes]
rs72709521	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72709522	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72709523	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72709525	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72709526	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72709528	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72709530	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72709532	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72709533	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72709535	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72709548	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72709549	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72709553	0.80[AMR][1000 genomes]
rs72709567	0.80[AMR][1000 genomes]
rs72709568	0.94[AMR][1000 genomes]
rs72709569	0.94[AMR][1000 genomes]
rs72709570	0.94[AMR][1000 genomes]
rs72709573	0.94[AMR][1000 genomes]
rs72709576	0.94[AMR][1000 genomes]
rs72709578	0.89[AMR][1000 genomes]
rs72709580	0.89[AMR][1000 genomes]
rs72709586	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72709587	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72709590	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72709591	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs855869	0.82[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	esv3369957	chr1:158915589-159003393	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
2	nsv872486	chr1:158979191-159090256	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158976000-159000800	Weak transcription	Gastric	stomach
2	chr1:158980200-159025400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:158982600-159027400	Weak transcription	Fetal Kidney	kidney
4	chr1:158982800-159000200	Weak transcription	Aorta	Aorta
5	chr1:158984000-159000800	Weak transcription	Right Ventricle	heart
6	chr1:158984200-159024200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:158984800-159027400	Weak transcription	Psoas Muscle	Psoas
8	chr1:158985400-159023800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:158985800-159005000	Weak transcription	Brain Angular Gyrus	brain
10	chr1:158986000-159016200	Weak transcription	Stomach Mucosa	stomach
11	chr1:158987000-159000200	Weak transcription	Brain Substantia Nigra	brain
12	chr1:158987000-159000400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr1:158987200-159000000	Weak transcription	Small Intestine	intestine
14	chr1:158987200-159000200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr1:158987200-159000400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:158987200-159001200	Strong transcription	Fetal Thymus	thymus
17	chr1:158987800-159000200	Weak transcription	Esophagus	oesophagus
18	chr1:158988000-159002200	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr1:158988200-159000000	Weak transcription	HSMMtube	muscle
20	chr1:158988200-159000200	Weak transcription	Left Ventricle	heart
21	chr1:158988200-159016600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr1:158988400-159002400	Weak transcription	Fetal Brain Male	brain
23	chr1:158988600-159024000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr1:158988800-159000800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:158989000-159002400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr1:158989000-159003000	Weak transcription	Colonic Mucosa	Colon
27	chr1:158989800-159004200	Weak transcription	Brain Cingulate Gyrus	brain
28	chr1:158990200-158999800	Weak transcription	Brain Hippocampus Middle	brain
29	chr1:158990200-159000200	Weak transcription	Brain Anterior Caudate	brain
30	chr1:158991000-159000000	Weak transcription	Placenta	Placenta
31	chr1:158991600-159000200	Weak transcription	Liver	Liver
32	chr1:158991600-159000200	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr1:158991600-159000200	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr1:158991600-159000400	Weak transcription	Duodenum Mucosa	Duodenum
35	chr1:158992400-159000200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:158993000-159023200	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr1:158993800-159000600	Weak transcription	HMEC	breast
38	chr1:158993800-159002000	Weak transcription	NH-A	brain
39	chr1:158994000-159000200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr1:158994000-159000800	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr1:158994400-159000000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr1:158994400-159000000	Weak transcription	Adipose Nuclei	Adipose
43	chr1:158994400-159000200	Weak transcription	Spleen	Spleen
44	chr1:158994400-159000400	Weak transcription	Colon Smooth Muscle	Colon
45	chr1:158994400-159000400	Weak transcription	NHDF-Ad	bronchial
46	chr1:158994600-159000200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr1:158994600-159000200	Weak transcription	Hela-S3	cervix
48	chr1:158995000-159000000	Weak transcription	Fetal Muscle Leg	muscle
49	chr1:158995000-159000200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr1:158995200-158999400	Weak transcription	Fetal Stomach	stomach

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