Variant report

Variant	rs60377914
Chromosome Location	chr1:86131319-86131320
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs56845363	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57279034	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61616564	1.00[AMR][1000 genomes]
rs6682426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72944654	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72944667	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72944681	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72944701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72946607	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72946610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72946612	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72946626	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72946649	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72946658	1.00[AMR][1000 genomes]
rs72946661	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72946666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72946671	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72946698	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72948631	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72948655	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72948657	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72948683	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72948687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72950619	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7517522	0.91[AFR][1000 genomes];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	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers 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	72 gene(s)	inside rSNPs	diseases
2	esv3391173	chr1:86005637-86337469	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv817212	chr1:86127851-86658426	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86095400-86134800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:86103400-86173000	Weak transcription	Pancreas	Pancrea
3	chr1:86103600-86141200	Weak transcription	Thymus	Thymus
4	chr1:86103600-86142200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr1:86103600-86145400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:86103600-86145600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:86103600-86157400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:86103600-86172600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:86103600-86172600	Weak transcription	Gastric	stomach
10	chr1:86106000-86141200	Weak transcription	Lung	lung
11	chr1:86114000-86141200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr1:86114000-86143600	Weak transcription	Colon Smooth Muscle	Colon
13	chr1:86114400-86142200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr1:86114400-86163200	Weak transcription	Esophagus	oesophagus
15	chr1:86115200-86146800	Weak transcription	Psoas Muscle	Psoas
16	chr1:86115200-86167600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr1:86115400-86141000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr1:86116400-86143600	Weak transcription	Brain Hippocampus Middle	brain
19	chr1:86116400-86146200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr1:86116600-86142200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:86116600-86145400	Weak transcription	Fetal Stomach	stomach
22	chr1:86117000-86165800	Weak transcription	Fetal Brain Female	brain
23	chr1:86117600-86172000	Weak transcription	Small Intestine	intestine
24	chr1:86119200-86133000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:86119200-86142200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr1:86119200-86142200	Weak transcription	Placenta	Placenta
27	chr1:86119400-86134000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr1:86119400-86135800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr1:86119400-86140600	Weak transcription	Duodenum Mucosa	Duodenum
30	chr1:86119400-86140800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:86119400-86142200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr1:86119400-86142200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr1:86119400-86143400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr1:86119600-86138800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr1:86119600-86140600	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr1:86119600-86142200	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr1:86119600-86157800	Weak transcription	Hela-S3	cervix
38	chr1:86119600-86172000	Weak transcription	Colonic Mucosa	Colon
39	chr1:86119800-86134000	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr1:86119800-86139600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr1:86119800-86171800	Weak transcription	Fetal Brain Male	brain
42	chr1:86120000-86134600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr1:86120000-86135200	Weak transcription	Ovary	ovary
44	chr1:86120000-86135800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:86120000-86136200	Weak transcription	Adipose Nuclei	Adipose
46	chr1:86120000-86138800	Weak transcription	Fetal Thymus	thymus
47	chr1:86120000-86140000	Weak transcription	Left Ventricle	heart
48	chr1:86120000-86140600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr1:86120000-86141000	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr1:86120000-86142000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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