Variant report

Variant	rs73396803
Chromosome Location	chr22:30287383-30287384
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs2051858	1.00[AMR][1000 genomes]
rs2051859	1.00[AMR][1000 genomes]
rs2107672	1.00[AMR][1000 genomes]
rs2107673	1.00[AMR][1000 genomes]
rs2158535	1.00[AMR][1000 genomes]
rs2232904	1.00[AMR][1000 genomes]
rs56727193	0.88[AFR][1000 genomes]
rs56836109	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57349783	1.00[AMR][1000 genomes]
rs57561197	1.00[AMR][1000 genomes]
rs57631440	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57889745	1.00[AMR][1000 genomes]
rs58198399	1.00[AMR][1000 genomes]
rs58906954	1.00[AMR][1000 genomes]
rs58967191	0.94[AFR][1000 genomes]
rs59632146	1.00[AMR][1000 genomes]
rs59732153	1.00[AMR][1000 genomes]
rs60017483	0.88[AFR][1000 genomes]
rs60022678	0.80[AFR][1000 genomes]
rs6006286	1.00[AMR][1000 genomes]
rs60416116	1.00[AMR][1000 genomes]
rs60573683	1.00[AMR][1000 genomes]
rs60613378	1.00[AMR][1000 genomes]
rs61310283	1.00[AMR][1000 genomes]
rs73390962	1.00[AMR][1000 genomes]
rs73390967	1.00[AMR][1000 genomes]
rs73390968	1.00[AMR][1000 genomes]
rs73392820	1.00[AMR][1000 genomes]
rs73392847	1.00[AMR][1000 genomes]
rs73392870	1.00[AMR][1000 genomes]
rs73392874	1.00[AMR][1000 genomes]
rs73392878	1.00[AMR][1000 genomes]
rs73392892	1.00[AMR][1000 genomes]
rs73392894	1.00[AMR][1000 genomes]
rs73394839	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73394864	1.00[AMR][1000 genomes]
rs73394865	1.00[AMR][1000 genomes]
rs73394872	1.00[AMR][1000 genomes]
rs73394875	1.00[AMR][1000 genomes]
rs73394884	1.00[AMR][1000 genomes]
rs73394885	1.00[AMR][1000 genomes]
rs73394887	1.00[AMR][1000 genomes]
rs73394890	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73394892	1.00[AMR][1000 genomes]
rs73394897	1.00[AMR][1000 genomes]
rs73396810	1.00[AMR][1000 genomes]
rs73396811	1.00[AMR][1000 genomes]
rs73396818	1.00[AMR][1000 genomes]
rs73396822	1.00[AMR][1000 genomes]
rs73396823	1.00[AMR][1000 genomes]
rs73396826	1.00[AMR][1000 genomes]
rs73396827	1.00[AMR][1000 genomes]
rs73396828	1.00[AMR][1000 genomes]
rs73396830	1.00[AMR][1000 genomes]
rs73396837	0.86[AFR][1000 genomes]
rs73396883	0.86[AFR][1000 genomes]
rs73396886	0.94[AFR][1000 genomes]
rs73396894	0.86[AFR][1000 genomes]
rs73398653	0.80[AFR][1000 genomes]
rs73398671	0.80[AFR][1000 genomes]
rs73398701	0.80[AFR][1000 genomes]
rs73400604	0.80[AFR][1000 genomes]
rs73400618	0.80[AFR][1000 genomes]
rs73400625	0.80[AFR][1000 genomes]
rs73400627	0.80[AFR][1000 genomes]
rs73400629	0.80[AFR][1000 genomes]
rs73400637	0.85[AFR][1000 genomes]
rs879447	0.94[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	esv1829662	chr22:30171725-30304390	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	esv1829425	chr22:30184378-30297376	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS 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	7 gene(s)	inside rSNPs	diseases
5	esv1851082	chr22:30253256-30294744	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv1833221	chr22:30274129-30297376	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv829161	chr22:30276811-30298332	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv829162	chr22:30276811-30298761	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv11554	chr22:30280400-30298271	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv1825528	chr22:30282800-30295577	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30280200-30293600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr22:30280200-30303800	Weak transcription	Aorta	Aorta
3	chr22:30280400-30297400	Weak transcription	K562	blood
4	chr22:30280800-30291600	Weak transcription	Lung	lung
5	chr22:30280800-30303600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr22:30281000-30287600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr22:30281000-30303000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr22:30281000-30303200	Weak transcription	Fetal Muscle Leg	muscle
9	chr22:30281400-30312200	Weak transcription	Primary B cells from peripheral blood	blood
10	chr22:30281600-30303400	Weak transcription	Fetal Intestine Small	intestine
11	chr22:30281800-30299000	Weak transcription	Spleen	Spleen
12	chr22:30281800-30300200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr22:30282000-30297600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr22:30282200-30287600	Weak transcription	Right Atrium	heart
15	chr22:30282200-30290400	Weak transcription	Fetal Stomach	stomach
16	chr22:30282200-30303000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr22:30282200-30303200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr22:30282200-30310200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr22:30282600-30290200	Weak transcription	Fetal Brain Male	brain
20	chr22:30282600-30300000	Weak transcription	Small Intestine	intestine
21	chr22:30282600-30303400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr22:30283600-30287600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr22:30283600-30287800	Weak transcription	Primary hematopoietic stem cells	blood
24	chr22:30283800-30287800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr22:30283800-30287800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr22:30283800-30289600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr22:30283800-30290000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr22:30283800-30290200	Weak transcription	Fetal Heart	heart
29	chr22:30283800-30292600	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr22:30283800-30294200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr22:30283800-30294400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr22:30283800-30295600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr22:30283800-30297400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr22:30283800-30299000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr22:30283800-30300000	Weak transcription	Stomach Mucosa	stomach
36	chr22:30283800-30307000	Weak transcription	Esophagus	oesophagus
37	chr22:30284000-30288200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr22:30284000-30288800	Weak transcription	Colon Smooth Muscle	Colon
39	chr22:30284000-30290000	Weak transcription	Brain Hippocampus Middle	brain
40	chr22:30284000-30297200	Weak transcription	Primary B cells from cord blood	blood
41	chr22:30284000-30299800	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr22:30284000-30303600	Weak transcription	Brain Angular Gyrus	brain
43	chr22:30284400-30288800	Weak transcription	Liver	Liver
44	chr22:30284400-30303800	Weak transcription	Pancreas	Pancrea
45	chr22:30284600-30288800	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr22:30284600-30290400	Weak transcription	Rectal Smooth Muscle	rectum
47	chr22:30285400-30288600	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr22:30286200-30288200	Enhancers	Psoas Muscle	Psoas
49	chr22:30286400-30287600	Enhancers	Right Ventricle	heart
50	chr22:30286400-30288800	Enhancers	Primary T helper cells PMA-I stimulated	--

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