Variant report

Variant	rs8142650
Chromosome Location	chr22:22147701-22147702
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10427813	1.00[ASN][1000 genomes]
rs1103229	1.00[ASN][1000 genomes]
rs1530229	1.00[ASN][1000 genomes]
rs1647705	1.00[ASN][1000 genomes]
rs1647711	1.00[ASN][1000 genomes]
rs1669123	1.00[ASN][1000 genomes]
rs17759598	1.00[ASN][1000 genomes]
rs17759796	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17821327	1.00[ASN][1000 genomes]
rs17821500	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17821818	1.00[ASN][1000 genomes]
rs17821866	1.00[ASN][1000 genomes]
rs2329886	1.00[ASN][1000 genomes]
rs238781	1.00[ASN][1000 genomes]
rs238782	1.00[ASN][1000 genomes]
rs239914	1.00[ASN][1000 genomes]
rs239915	1.00[ASN][1000 genomes]
rs239916	1.00[ASN][1000 genomes]
rs239920	1.00[ASN][1000 genomes]
rs240065	1.00[ASN][1000 genomes]
rs2845458	1.00[ASN][1000 genomes]
rs28721456	1.00[ASN][1000 genomes]
rs2876980	1.00[ASN][1000 genomes]
rs34239349	1.00[ASN][1000 genomes]
rs412050	1.00[ASN][1000 genomes]
rs413815	1.00[ASN][1000 genomes]
rs55649326	1.00[ASN][1000 genomes]
rs56138298	1.00[ASN][1000 genomes]
rs56226933	1.00[ASN][1000 genomes]
rs5999842	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6000236	1.00[ASN][1000 genomes]
rs61757982	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61763381	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61763388	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61763401	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs710171	1.00[ASN][1000 genomes]
rs710176	1.00[ASN][1000 genomes]
rs717121	1.00[ASN][1000 genomes]
rs73149918	1.00[ASN][1000 genomes]
rs73149929	1.00[ASN][1000 genomes]
rs735244	1.00[ASN][1000 genomes]
rs8135758	1.00[ASN][1000 genomes]
rs8136405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8139395	1.00[ASN][1000 genomes]
rs8140233	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs861811	1.00[ASN][1000 genomes]
rs861818	1.00[ASN][1000 genomes]
rs861820	1.00[ASN][1000 genomes]
rs861821	1.00[ASN][1000 genomes]
rs861828	1.00[ASN][1000 genomes]
rs861829	1.00[ASN][1000 genomes]
rs861831	1.00[ASN][1000 genomes]
rs861832	1.00[ASN][1000 genomes]
rs861833	1.00[ASN][1000 genomes]
rs861840	1.00[ASN][1000 genomes]
rs861841	1.00[ASN][1000 genomes]
rs861844	1.00[ASN][1000 genomes]
rs861845	1.00[ASN][1000 genomes]
rs861846	1.00[ASN][1000 genomes]
rs861856	1.00[ASN][1000 genomes]
rs881091	1.00[ASN][1000 genomes]
rs9607194	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948603	chr22:21928916-22601814	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	422 gene(s)	inside rSNPs	diseases
2	nsv948902	chr22:21928916-22657900	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	426 gene(s)	inside rSNPs	diseases
3	nsv1063962	chr22:21939722-22934593	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	477 gene(s)	inside rSNPs	diseases
4	nsv1058617	chr22:21939922-22934454	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	477 gene(s)	inside rSNPs	diseases
5	nsv529694	chr22:21957411-22905068	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	474 gene(s)	inside rSNPs	diseases
6	nsv531797	chr22:21977700-22959729	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	476 gene(s)	inside rSNPs	diseases
7	nsv1066403	chr22:22010822-22352262	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
8	nsv1066964	chr22:22055123-22228745	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv544604	chr22:22055123-22228745	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv588322	chr22:22086373-22186479	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	nsv948580	chr22:22100718-22839559	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
12	esv1795495	chr22:22131125-22204916	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv914470	chr22:22131125-22272737	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking 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	17 gene(s)	inside rSNPs	diseases
14	nsv1059265	chr22:22131125-22457154	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
15	esv3379268	chr22:22135347-22446281	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
16	esv3385441	chr22:22135777-22320294	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
17	esv2752404	chr22:22141825-22570417	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
18	esv2422277	chr22:22144108-22442159	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
19	esv2422295	chr22:22144108-22442159	Bivalent/Poised TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22110600-22150600	Weak transcription	Fetal Heart	heart
2	chr22:22113400-22163800	Weak transcription	Right Atrium	heart
3	chr22:22114200-22172800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr22:22121600-22171400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr22:22123200-22162200	Strong transcription	Fetal Thymus	thymus
6	chr22:22127200-22167600	Weak transcription	Psoas Muscle	Psoas
7	chr22:22127200-22170600	Weak transcription	Hela-S3	cervix
8	chr22:22129000-22162200	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr22:22129600-22151200	Weak transcription	Colon Smooth Muscle	Colon
10	chr22:22129800-22152000	Weak transcription	Brain Germinal Matrix	brain
11	chr22:22130000-22150600	Weak transcription	Ovary	ovary
12	chr22:22130000-22150800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr22:22131400-22150600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr22:22132000-22152000	Weak transcription	Right Ventricle	heart
15	chr22:22133400-22156000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr22:22134200-22162200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr22:22134600-22151200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr22:22135200-22152400	Strong transcription	Fetal Muscle Trunk	muscle
19	chr22:22135200-22162200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr22:22135800-22162400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr22:22135800-22162600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr22:22135800-22162600	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr22:22136000-22162400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr22:22136200-22161800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr22:22137600-22148200	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr22:22137600-22152400	Weak transcription	Esophagus	oesophagus
27	chr22:22137600-22162600	Strong transcription	Dnd41	blood
28	chr22:22138000-22150800	Weak transcription	Gastric	stomach
29	chr22:22138400-22152000	Weak transcription	Spleen	Spleen
30	chr22:22138800-22149400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr22:22139200-22172800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr22:22139400-22151800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr22:22139600-22154600	Weak transcription	Fetal Brain Male	brain
34	chr22:22139800-22150600	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr22:22139800-22151200	Weak transcription	Pancreas	Pancrea
36	chr22:22140000-22150400	Weak transcription	Lung	lung
37	chr22:22140800-22161800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr22:22141000-22151200	Strong transcription	Fetal Muscle Leg	muscle
39	chr22:22141000-22162000	Strong transcription	Fetal Intestine Large	intestine
40	chr22:22141000-22162200	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr22:22142600-22150800	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr22:22142600-22151000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr22:22142800-22150400	Weak transcription	Rectal Smooth Muscle	rectum
44	chr22:22142800-22170600	Weak transcription	Colonic Mucosa	Colon
45	chr22:22143000-22150400	Weak transcription	Brain Substantia Nigra	brain
46	chr22:22143200-22150000	Weak transcription	Fetal Brain Female	brain
47	chr22:22143200-22150400	Weak transcription	Brain Cingulate Gyrus	brain
48	chr22:22143200-22150600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr22:22143200-22150600	Weak transcription	Brain Angular Gyrus	brain
50	chr22:22143200-22150600	Weak transcription	Brain Anterior Caudate	brain

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