Variant report

Variant	rs2793924
Chromosome Location	chr1:120545166-120545167
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs17024243	1.00[EUR][1000 genomes]
rs17024274	1.00[EUR][1000 genomes]
rs2453043	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2453045	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2453054	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2453057	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2453060	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2493393	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2493395	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2493397	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2493399	1.00[EUR][1000 genomes]
rs2493409	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2641341	1.00[EUR][1000 genomes]
rs2691751	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2793828	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34996202	1.00[EUR][1000 genomes]
rs4274109	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59055697	1.00[EUR][1000 genomes]
rs60594933	1.00[EUR][1000 genomes]
rs6673881	1.00[EUR][1000 genomes]
rs6689706	1.00[EUR][1000 genomes]
rs6690032	1.00[EUR][1000 genomes]
rs6697236	1.00[EUR][1000 genomes]
rs74115097	1.00[EUR][1000 genomes]
rs74115360	1.00[EUR][1000 genomes]
rs74115365	1.00[EUR][1000 genomes]
rs7536072	1.00[EUR][1000 genomes]
rs7537153	1.00[EUR][1000 genomes]
rs7537385	1.00[EUR][1000 genomes]
rs7540526	1.00[EUR][1000 genomes]
rs835566	1.00[EUR][1000 genomes]
rs835567	1.00[EUR][1000 genomes]
rs835577	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428201	chr1:120267313-120697156	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2757750	chr1:120267313-121226013	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	esv2758965	chr1:120267313-121226013	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	esv1816057	chr1:120469050-120697156	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	esv1818054	chr1:120469050-120697156	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	esv1844863	chr1:120469050-120697156	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	esv1850218	chr1:120469050-120697156	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv427730	chr1:120469050-120697156	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120509800-120557600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr1:120510200-120552200	Weak transcription	HUVEC	blood vessel
3	chr1:120510800-120557400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr1:120511600-120557800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr1:120514400-120549400	Weak transcription	Gastric	stomach
6	chr1:120521200-120549400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:120523800-120546800	Weak transcription	Esophagus	oesophagus
8	chr1:120525600-120557800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:120527600-120550000	Weak transcription	Lung	lung
10	chr1:120527800-120558200	Weak transcription	Brain Angular Gyrus	brain
11	chr1:120529800-120549400	Weak transcription	Pancreas	Pancrea
12	chr1:120529800-120557800	Weak transcription	Left Ventricle	heart
13	chr1:120531600-120556800	Weak transcription	Fetal Thymus	thymus
14	chr1:120531800-120549600	Weak transcription	Hela-S3	cervix
15	chr1:120533000-120555200	Weak transcription	Aorta	Aorta
16	chr1:120533000-120556800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr1:120533200-120558400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr1:120533400-120545200	Weak transcription	Fetal Kidney	kidney
19	chr1:120533400-120549400	Weak transcription	Ovary	ovary
20	chr1:120533400-120552000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr1:120533400-120552200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr1:120533400-120552200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr1:120533400-120555800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr1:120533400-120555800	Weak transcription	Brain Hippocampus Middle	brain
25	chr1:120533400-120556800	Weak transcription	Fetal Heart	heart
26	chr1:120533400-120557200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr1:120533400-120557800	Weak transcription	Duodenum Mucosa	Duodenum
28	chr1:120533400-120558000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr1:120533400-120558400	Weak transcription	A549	lung
30	chr1:120533400-120561400	Weak transcription	HMEC	breast
31	chr1:120533400-120563400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr1:120533400-120575000	Weak transcription	NHEK	skin
33	chr1:120533400-120578200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr1:120533600-120551800	Weak transcription	NHLF	lung
35	chr1:120533800-120552000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr1:120535400-120546800	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr1:120535400-120557800	Weak transcription	Right Ventricle	heart
38	chr1:120535600-120547600	Weak transcription	HSMMtube	muscle
39	chr1:120537600-120555800	Weak transcription	Brain Substantia Nigra	brain
40	chr1:120538200-120552200	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr1:120539000-120553200	Weak transcription	NHDF-Ad	bronchial
42	chr1:120539000-120557800	Weak transcription	Colonic Mucosa	Colon
43	chr1:120539200-120555400	Weak transcription	Brain Anterior Caudate	brain
44	chr1:120539400-120557600	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr1:120539800-120546200	Weak transcription	Colon Smooth Muscle	Colon
46	chr1:120539800-120546400	Weak transcription	Adipose Nuclei	Adipose
47	chr1:120539800-120546400	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr1:120539800-120546800	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr1:120539800-120555800	Weak transcription	Fetal Lung	lung
50	chr1:120539800-120557800	Weak transcription	H1 Cell Line	embryonic stem cell

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