Variant report

Variant	rs1807726
Chromosome Location	chr22:30430535-30430536
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs11552852	0.93[EUR][1000 genomes]
rs1544429	0.89[EUR][1000 genomes]
rs1544430	0.81[EUR][1000 genomes]
rs1544431	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1544433	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16988120	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16988143	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16988148	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16988149	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16988244	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16988291	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16988303	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16988304	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16988333	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17647863	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17648208	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2105871	0.80[EUR][1000 genomes]
rs2412980	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2412981	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs36579	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs36588	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs36589	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs36592	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs36593	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs36597	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs36599	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs36602	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs36603	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs36608	0.84[EUR][1000 genomes]
rs39713	0.85[EUR][1000 genomes]
rs41278853	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs41281623	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs41281633	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4482600	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4482601	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs45629133	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4823078	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55645000	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56392746	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56406718	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57348516	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs5752974	0.82[EUR][1000 genomes]
rs5752977	0.82[EUR][1000 genomes]
rs5752979	0.89[EUR][1000 genomes]
rs5753038	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs5753039	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5753042	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5753043	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs5763560	0.82[EUR][1000 genomes]
rs5763568	0.82[EUR][1000 genomes]
rs5763582	0.80[EUR][1000 genomes]
rs5763595	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs5763855	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5763856	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5763857	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5763858	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5763870	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5763873	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5763878	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs58162368	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5997539	0.82[EUR][1000 genomes]
rs6006276	0.82[EUR][1000 genomes]
rs6006383	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60759987	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6518681	0.91[EUR][1000 genomes]
rs6519802	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6519805	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs713916	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7284365	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7284951	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7285585	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7286205	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7286441	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7287233	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7290175	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs737901	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs737938	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73883344	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73883349	0.82[EUR][1000 genomes]
rs73883354	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73883355	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73883359	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73883360	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73883363	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73883367	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73883370	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73883374	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73883375	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73883377	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73883378	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8141471	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs962322	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30390200-30434200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:30391400-30433000	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr22:30409000-30432800	Strong transcription	Fetal Stomach	stomach
4	chr22:30412000-30431200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr22:30419600-30434400	Weak transcription	Small Intestine	intestine
6	chr22:30422400-30434200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr22:30422400-30434200	Weak transcription	HUVEC	blood vessel
8	chr22:30423000-30432600	Weak transcription	NH-A	brain
9	chr22:30423400-30430800	Strong transcription	Fetal Intestine Small	intestine
10	chr22:30423400-30432400	Weak transcription	Stomach Mucosa	stomach
11	chr22:30423400-30434400	Weak transcription	A549	lung
12	chr22:30423600-30447600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr22:30424200-30434000	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr22:30424400-30431400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr22:30424600-30432600	Weak transcription	HMEC	breast
16	chr22:30424600-30435600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr22:30424800-30432400	Weak transcription	Colonic Mucosa	Colon
18	chr22:30424800-30443000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr22:30425000-30430600	Weak transcription	Primary hematopoietic stem cells	blood
20	chr22:30425000-30434200	Weak transcription	Gastric	stomach
21	chr22:30425200-30431600	Weak transcription	Esophagus	oesophagus
22	chr22:30425200-30432400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr22:30425200-30432400	Weak transcription	HSMMtube	muscle
24	chr22:30425200-30434000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr22:30425200-30434200	Weak transcription	Pancreas	Pancrea
26	chr22:30425200-30434200	Weak transcription	NHLF	lung
27	chr22:30425200-30435800	Weak transcription	Stomach Smooth Muscle	stomach
28	chr22:30425200-30438800	Weak transcription	Fetal Intestine Large	intestine
29	chr22:30425200-30440000	Weak transcription	Fetal Lung	lung
30	chr22:30425200-30440200	Weak transcription	Brain Germinal Matrix	brain
31	chr22:30425400-30432200	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr22:30425400-30432400	Weak transcription	NHEK	skin
33	chr22:30425400-30432400	Weak transcription	Osteobl	bone
34	chr22:30425600-30439400	Weak transcription	Duodenum Mucosa	Duodenum
35	chr22:30425800-30431200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr22:30425800-30432400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr22:30425800-30433000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr22:30425800-30433800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr22:30425800-30434000	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr22:30425800-30434800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr22:30425800-30435400	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr22:30425800-30439800	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr22:30425800-30442000	Weak transcription	Fetal Brain Female	brain
44	chr22:30426000-30432400	Weak transcription	HSMM	muscle
45	chr22:30426000-30434400	Weak transcription	Left Ventricle	heart
46	chr22:30426200-30432400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr22:30426200-30434000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr22:30426200-30434200	Weak transcription	Lung	lung
49	chr22:30426400-30431200	Weak transcription	Primary T cells from cord blood	blood
50	chr22:30426400-30431800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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