Variant report

Variant	rs6682426
Chromosome Location	chr1:86147949-86147950
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
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]
rs60377914	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61616564	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:4 , 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
4	nsv871471	chr1:86143084-86211516	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86103400-86173000	Weak transcription	Pancreas	Pancrea
2	chr1:86103600-86157400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:86103600-86172600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:86103600-86172600	Weak transcription	Gastric	stomach
5	chr1:86114400-86163200	Weak transcription	Esophagus	oesophagus
6	chr1:86115200-86167600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr1:86117000-86165800	Weak transcription	Fetal Brain Female	brain
8	chr1:86117600-86172000	Weak transcription	Small Intestine	intestine
9	chr1:86119600-86157800	Weak transcription	Hela-S3	cervix
10	chr1:86119600-86172000	Weak transcription	Colonic Mucosa	Colon
11	chr1:86119800-86171800	Weak transcription	Fetal Brain Male	brain
12	chr1:86132800-86165800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr1:86133600-86163400	Weak transcription	Fetal Heart	heart
14	chr1:86134200-86172600	Weak transcription	Right Ventricle	heart
15	chr1:86134600-86172400	Weak transcription	Stomach Mucosa	stomach
16	chr1:86135200-86171200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr1:86135600-86172000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr1:86141200-86158000	Weak transcription	HSMMtube	muscle
19	chr1:86141600-86171800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr1:86142400-86170600	Weak transcription	Brain Germinal Matrix	brain
21	chr1:86142600-86155800	Weak transcription	Ovary	ovary
22	chr1:86142600-86157000	Weak transcription	Duodenum Mucosa	Duodenum
23	chr1:86142600-86157200	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr1:86142600-86157800	Weak transcription	Stomach Smooth Muscle	stomach
25	chr1:86142600-86163800	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr1:86142600-86166200	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr1:86142600-86166400	Weak transcription	Lung	lung
28	chr1:86142600-86170800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:86142600-86171000	Weak transcription	Brain Substantia Nigra	brain
30	chr1:86142600-86172600	Weak transcription	Thymus	Thymus
31	chr1:86142600-86172600	Weak transcription	Spleen	Spleen
32	chr1:86142800-86166400	Weak transcription	Placenta	Placenta
33	chr1:86143000-86157800	Weak transcription	NHLF	lung
34	chr1:86144000-86156200	Weak transcription	Fetal Thymus	thymus
35	chr1:86144000-86157400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr1:86144200-86149600	Weak transcription	Left Ventricle	heart
37	chr1:86144200-86158000	Weak transcription	A549	lung
38	chr1:86144200-86163600	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr1:86144200-86165000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr1:86144200-86166200	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr1:86144200-86166800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr1:86144200-86168200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr1:86144400-86149600	Weak transcription	NHDF-Ad	bronchial
44	chr1:86144400-86157200	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr1:86144400-86158200	Weak transcription	NH-A	brain
46	chr1:86144400-86165800	Weak transcription	K562	blood
47	chr1:86144400-86167600	Weak transcription	Fetal Lung	lung
48	chr1:86144400-86170400	Weak transcription	Brain Hippocampus Middle	brain
49	chr1:86144600-86155600	Weak transcription	HUVEC	blood vessel
50	chr1:86145000-86157000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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