Variant report

Variant	rs73398640
Chromosome Location	chr22:30358889-30358890
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs16988115	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16988122	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16988151	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28647168	1.00[AMR][1000 genomes]
rs56733052	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57258477	1.00[AMR][1000 genomes]
rs5763560	1.00[ASN][1000 genomes]
rs57724305	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58255360	1.00[AMR][1000 genomes]
rs58952888	0.83[AMR][1000 genomes]
rs59580785	1.00[AMR][1000 genomes]
rs5997540	1.00[AMR][1000 genomes]
rs5997565	1.00[AMR][1000 genomes]
rs6006297	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6006299	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6006301	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6006309	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6006317	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6006318	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6006331	1.00[AMR][1000 genomes]
rs60245742	1.00[AMR][1000 genomes]
rs60964812	1.00[AMR][1000 genomes]
rs61043203	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61191536	1.00[AMR][1000 genomes]
rs61540772	1.00[AMR][1000 genomes]
rs73162767	1.00[ASN][1000 genomes]
rs73394851	1.00[AMR][1000 genomes]
rs73394860	1.00[AMR][1000 genomes]
rs73394861	1.00[AMR][1000 genomes]
rs73394863	1.00[AMR][1000 genomes]
rs73394876	1.00[AMR][1000 genomes]
rs73396827	1.00[EUR][1000 genomes]
rs73396842	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396845	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73398604	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73398634	0.88[AFR][1000 genomes]
rs73398637	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73398663	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73400621	0.83[AMR][1000 genomes]
rs73400629	1.00[EUR][1000 genomes]
rs73400633	1.00[AMR][1000 genomes]
rs73400648	1.00[AMR][1000 genomes]
rs73400675	1.00[AMR][1000 genomes]
rs73400689	1.00[AMR][1000 genomes]
rs73402619	1.00[AMR][1000 genomes]
rs73402627	1.00[AMR][1000 genomes]
rs73402640	1.00[AMR][1000 genomes]
rs73402644	1.00[AMR][1000 genomes]
rs73402647	1.00[AMR][1000 genomes]
rs73402653	1.00[AMR][1000 genomes]
rs73402667	1.00[AMR][1000 genomes]
rs9620939	0.83[AMR][1000 genomes]
rs9625903	0.83[AMR][1000 genomes]
rs9754503	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS 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	47 gene(s)	inside rSNPs	diseases
2	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv1064489	chr22:30316627-30361881	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv869764	chr22:30323649-30367813	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv523696	chr22:30326102-30381789	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1058511	chr22:30330447-30361881	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv2763694	chr22:30330459-30361881	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv588883	chr22:30333405-30365842	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv3591	chr22:30344208-30388897	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30334200-30374800	Weak transcription	Thymus	Thymus
2	chr22:30340200-30374800	Weak transcription	Fetal Thymus	thymus
3	chr22:30340600-30360400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr22:30340600-30370000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr22:30340600-30375000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr22:30340800-30376000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr22:30342600-30375200	Weak transcription	Spleen	Spleen
8	chr22:30344200-30375000	Weak transcription	HMEC	breast
9	chr22:30344400-30376000	Weak transcription	HSMMtube	muscle
10	chr22:30344600-30367200	Weak transcription	Brain Anterior Caudate	brain
11	chr22:30344600-30370000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr22:30344600-30374600	Weak transcription	Adipose Nuclei	Adipose
13	chr22:30344600-30375600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr22:30345000-30367200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr22:30345000-30367600	Weak transcription	Brain Germinal Matrix	brain
16	chr22:30345000-30375400	Weak transcription	Fetal Brain Female	brain
17	chr22:30345400-30370000	Weak transcription	HSMM	muscle
18	chr22:30345400-30371600	Weak transcription	Lung	lung
19	chr22:30345400-30379000	Weak transcription	Esophagus	oesophagus
20	chr22:30345800-30363200	Weak transcription	Liver	Liver
21	chr22:30347000-30373800	Weak transcription	Left Ventricle	heart
22	chr22:30347200-30369600	Weak transcription	Pancreas	Pancrea
23	chr22:30347600-30359600	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr22:30347600-30360000	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr22:30348000-30374800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr22:30348200-30363200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr22:30348400-30366200	Weak transcription	Colon Smooth Muscle	Colon
28	chr22:30348400-30373800	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr22:30348400-30387200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr22:30348600-30366600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr22:30348800-30367200	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr22:30349400-30366200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr22:30349400-30370400	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr22:30349600-30360000	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr22:30349800-30367600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr22:30350000-30367800	Weak transcription	Brain Substantia Nigra	brain
37	chr22:30350600-30375400	Weak transcription	GM12878-XiMat	blood
38	chr22:30350600-30402600	Weak transcription	Aorta	Aorta
39	chr22:30350800-30367600	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr22:30351000-30359600	Weak transcription	Stomach Mucosa	stomach
41	chr22:30351200-30359600	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr22:30351200-30385800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr22:30351200-30387400	Weak transcription	Ovary	ovary
44	chr22:30352000-30369600	Weak transcription	Fetal Muscle Leg	muscle
45	chr22:30352600-30371600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr22:30352800-30373800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr22:30352800-30388600	Weak transcription	HepG2	liver
48	chr22:30353000-30369800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr22:30353200-30369200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr22:30353600-30375000	Weak transcription	Psoas Muscle	Psoas

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