Variant report

Variant	rs9621261
Chromosome Location	chr22:31849638-31849639
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31844458..31846488-chr22:31846838..31850631,3	K562	blood:
2	chr22:31847213..31849082-chr22:31849317..31851160,2	K562	blood:

Variant related genes	Relation type
ENSG00000184708	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10483159	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11089501	1.00[EUR][1000 genomes]
rs11089502	1.00[EUR][1000 genomes]
rs11089503	1.00[EUR][1000 genomes]
rs11089504	1.00[EUR][1000 genomes]
rs12165685	1.00[EUR][1000 genomes]
rs12168242	1.00[EUR][1000 genomes]
rs12169794	0.83[AMR][1000 genomes]
rs12484966	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12485004	0.82[ASN][1000 genomes]
rs12485048	0.85[AFR][1000 genomes]
rs12485176	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12485177	1.00[EUR][1000 genomes]
rs17820958	1.00[EUR][1000 genomes]
rs17821132	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1859677	1.00[EUR][1000 genomes]
rs1968024	1.00[EUR][1000 genomes]
rs2073856	1.00[EUR][1000 genomes]
rs2073859	1.00[EUR][1000 genomes]
rs2073860	1.00[EUR][1000 genomes]
rs2073861	1.00[EUR][1000 genomes]
rs2158779	1.00[EUR][1000 genomes]
rs2240424	1.00[EUR][1000 genomes]
rs2267168	1.00[EUR][1000 genomes]
rs2273248	1.00[EUR][1000 genomes]
rs2283882	1.00[EUR][1000 genomes]
rs2295240	0.83[AMR][1000 genomes]
rs28678535	1.00[EUR][1000 genomes]
rs28872513	1.00[EUR][1000 genomes]
rs35208364	0.83[AMR][1000 genomes]
rs3747153	1.00[EUR][1000 genomes]
rs3747154	1.00[EUR][1000 genomes]
rs3747155	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3788434	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5749233	1.00[EUR][1000 genomes]
rs5749236	1.00[EUR][1000 genomes]
rs5749239	1.00[EUR][1000 genomes]
rs5749240	1.00[EUR][1000 genomes]
rs5749247	1.00[EUR][1000 genomes]
rs5749252	1.00[EUR][1000 genomes]
rs5749255	1.00[EUR][1000 genomes]
rs5749258	1.00[EUR][1000 genomes]
rs5749262	1.00[EUR][1000 genomes]
rs5749263	1.00[EUR][1000 genomes]
rs5753506	1.00[EUR][1000 genomes]
rs5753509	1.00[EUR][1000 genomes]
rs5753511	1.00[EUR][1000 genomes]
rs5753512	1.00[EUR][1000 genomes]
rs5753513	1.00[EUR][1000 genomes]
rs5753516	1.00[EUR][1000 genomes]
rs5753519	1.00[EUR][1000 genomes]
rs5753525	1.00[EUR][1000 genomes]
rs5753526	1.00[EUR][1000 genomes]
rs5753527	1.00[EUR][1000 genomes]
rs5753529	1.00[EUR][1000 genomes]
rs5753532	1.00[EUR][1000 genomes]
rs5753534	1.00[EUR][1000 genomes]
rs5753535	1.00[EUR][1000 genomes]
rs5753540	1.00[EUR][1000 genomes]
rs5753555	1.00[EUR][1000 genomes]
rs5753556	1.00[EUR][1000 genomes]
rs5753566	1.00[EUR][1000 genomes]
rs5753569	1.00[EUR][1000 genomes]
rs5753571	1.00[EUR][1000 genomes]
rs5753572	1.00[EUR][1000 genomes]
rs58856347	1.00[EUR][1000 genomes]
rs59416609	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7292620	1.00[EUR][1000 genomes]
rs73396257	1.00[EUR][1000 genomes]
rs9619178	1.00[EUR][1000 genomes]
rs9621215	1.00[EUR][1000 genomes]
rs9621220	1.00[EUR][1000 genomes]
rs9621226	1.00[EUR][1000 genomes]
rs9621236	1.00[EUR][1000 genomes]
rs9621247	1.00[EUR][1000 genomes]
rs9621252	1.00[EUR][1000 genomes]
rs9621263	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs9621264	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9621265	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9621270	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834176	chr22:31682426-31864701	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
2	nsv1063634	chr22:31797004-31921254	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
3	nsv459872	chr22:31833759-31977594	Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
4	nsv588894	chr22:31833759-31977594	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
5	esv1791934	chr22:31846234-31874194	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31797000-31884400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:31797000-31884400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr22:31797200-31860600	Strong transcription	Fetal Stomach	stomach
4	chr22:31815000-31868200	Strong transcription	Dnd41	blood
5	chr22:31815000-31883400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr22:31822400-31859800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr22:31823600-31884600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr22:31829600-31852000	Strong transcription	Stomach Smooth Muscle	stomach
9	chr22:31831200-31850000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr22:31832600-31867800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr22:31836200-31873600	Weak transcription	Stomach Mucosa	stomach
12	chr22:31836800-31853000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr22:31838200-31859000	Weak transcription	Hela-S3	cervix
14	chr22:31838400-31849800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr22:31838600-31854400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr22:31839200-31850000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr22:31840800-31857200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr22:31841200-31849800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr22:31841400-31850200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr22:31843000-31850000	Weak transcription	HepG2	liver
21	chr22:31843000-31851800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr22:31843600-31850000	Weak transcription	Small Intestine	intestine
23	chr22:31844200-31849800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr22:31844400-31849800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr22:31844400-31850000	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr22:31844400-31850000	Weak transcription	Brain Angular Gyrus	brain
27	chr22:31844400-31850000	Weak transcription	Esophagus	oesophagus
28	chr22:31844400-31850000	Weak transcription	Pancreas	Pancrea
29	chr22:31844600-31849800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr22:31844600-31854400	Weak transcription	Psoas Muscle	Psoas
31	chr22:31844600-31857800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr22:31845000-31854400	Weak transcription	NHLF	lung
33	chr22:31845800-31853000	Strong transcription	Fetal Muscle Leg	muscle
34	chr22:31845800-31860400	Strong transcription	Primary T cells from cord blood	blood
35	chr22:31846000-31853400	Strong transcription	Fetal Muscle Trunk	muscle
36	chr22:31846000-31865800	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr22:31846400-31850000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr22:31846400-31854400	Weak transcription	Aorta	Aorta
39	chr22:31846400-31872000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr22:31846800-31850000	Weak transcription	Fetal Brain Male	brain
41	chr22:31847200-31850000	Weak transcription	Spleen	Spleen
42	chr22:31847400-31856200	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr22:31847600-31850800	Strong transcription	Rectal Smooth Muscle	rectum
44	chr22:31847600-31851200	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr22:31847600-31859800	Strong transcription	Placenta	Placenta
46	chr22:31847600-31860400	Strong transcription	Fetal Intestine Large	intestine
47	chr22:31847600-31881800	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr22:31847800-31851200	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr22:31847800-31852000	Strong transcription	Left Ventricle	heart
50	chr22:31847800-31852400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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