Variant report

Variant	rs9621220
Chromosome Location	chr22:31609832-31609833
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31607254..31610426-chr22:31643805..31645899,3	MCF-7	breast:
2	chr22:31608269..31610755-chr22:31686802..31688581,2	MCF-7	breast:
3	chr22:31602053..31603755-chr22:31608562..31611221,2	MCF-7	breast:
4	chr22:31608279..31610812-chr22:31624989..31626527,2	MCF-7	breast:
5	chr22:31608921..31610652-chr22:31638563..31640766,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182541	Chromatin interaction
ENSG00000228839	Chromatin interaction
ENSG00000100100	Chromatin interaction
ENSG00000202019	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10483159	1.00[EUR][1000 genomes]
rs11089493	0.86[ASN][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	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12484282	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12484775	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12484966	1.00[EUR][1000 genomes]
rs12485177	1.00[EUR][1000 genomes]
rs17220418	0.86[ASN][1000 genomes]
rs17820958	1.00[EUR][1000 genomes]
rs17821132	1.00[EUR][1000 genomes]
rs1859677	1.00[EUR][1000 genomes]
rs1968024	1.00[EUR][1000 genomes]
rs2073856	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2073859	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2073860	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2073861	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2158779	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2240424	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2240427	0.83[ASN][1000 genomes]
rs2267168	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2273248	1.00[EUR][1000 genomes]
rs2283882	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28678535	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28872513	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3747153	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3747154	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3747155	1.00[EUR][1000 genomes]
rs5749225	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs5749230	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs5749233	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5749235	0.97[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs5749236	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5749239	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5749240	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5749241	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs5749247	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5749252	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5749255	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5749258	1.00[EUR][1000 genomes]
rs5749262	1.00[EUR][1000 genomes]
rs5749263	1.00[EUR][1000 genomes]
rs5753485	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs5753494	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs5753502	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs5753506	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5753509	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5753511	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5753512	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5753513	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5753516	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5753519	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5753523	0.87[ASN][1000 genomes]
rs5753525	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5753526	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5753527	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5753529	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5753532	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5753534	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5753535	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5753540	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5753542	0.90[ASN][1000 genomes]
rs5753555	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5753556	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5753561	0.85[ASN][1000 genomes]
rs5753566	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5753569	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5753571	1.00[EUR][1000 genomes]
rs5753572	1.00[EUR][1000 genomes]
rs57775002	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs58856347	1.00[EUR][1000 genomes]
rs59416609	1.00[EUR][1000 genomes]
rs5997921	0.88[ASN][1000 genomes]
rs7286926	0.81[ASN][1000 genomes]
rs7292620	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73396257	1.00[EUR][1000 genomes]
rs9619178	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9621212	0.94[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9621215	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9621226	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9621236	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9621247	1.00[EUR][1000 genomes]
rs9621252	1.00[EUR][1000 genomes]
rs9621261	1.00[EUR][1000 genomes]
rs9621264	1.00[EUR][1000 genomes]
rs9621265	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv459871	chr22:31551160-31680624	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	nsv588893	chr22:31551160-31680624	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
3	nsv1067003	chr22:31558663-31697093	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1058844	chr22:31597104-31725296	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31608000-31611400	Active TSS	GM12878-XiMat	blood
2	chr22:31608800-31639800	Weak transcription	Aorta	Aorta
3	chr22:31609000-31610200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr22:31609200-31610000	Active TSS	HepG2	liver
5	chr22:31609200-31610400	Weak transcription	HSMMtube	muscle
6	chr22:31609200-31613600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr22:31609200-31613800	Weak transcription	Fetal Kidney	kidney
8	chr22:31609200-31613800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr22:31609200-31613800	Weak transcription	NH-A	brain
10	chr22:31609200-31614400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr22:31609200-31614600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr22:31609200-31615000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr22:31609200-31616200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr22:31609200-31619600	Weak transcription	Brain Substantia Nigra	brain
15	chr22:31609200-31629000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr22:31609400-31610000	Enhancers	Fetal Muscle Trunk	muscle
17	chr22:31609400-31610400	Active TSS	Rectal Mucosa Donor 29	rectum
18	chr22:31609400-31610400	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr22:31609400-31610600	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr22:31609400-31610800	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr22:31609400-31611600	Enhancers	Liver	Liver
22	chr22:31609400-31612200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr22:31609400-31612400	Weak transcription	Fetal Muscle Leg	muscle
24	chr22:31609400-31613000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr22:31609400-31613400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr22:31609400-31613800	Weak transcription	NHEK	skin
27	chr22:31609400-31614600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr22:31609400-31614600	Weak transcription	Left Ventricle	heart
29	chr22:31609400-31614800	Weak transcription	NHDF-Ad	bronchial
30	chr22:31609400-31615000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr22:31609400-31616200	Weak transcription	A549	lung
32	chr22:31609400-31617800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr22:31609400-31619000	Weak transcription	HSMM	muscle
34	chr22:31609400-31619600	Weak transcription	Brain Angular Gyrus	brain
35	chr22:31609400-31621800	Weak transcription	Fetal Brain Female	brain
36	chr22:31609400-31625400	Weak transcription	NHLF	lung
37	chr22:31609400-31625400	Weak transcription	Osteobl	bone
38	chr22:31609600-31610000	Active TSS	Primary hematopoietic stem cells	blood
39	chr22:31609600-31610000	Active TSS	Colonic Mucosa	Colon
40	chr22:31609600-31610200	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr22:31609600-31610200	Active TSS	Rectal Mucosa Donor 31	rectum
42	chr22:31609600-31610200	Weak transcription	Stomach Mucosa	stomach
43	chr22:31609600-31610400	Active TSS	Duodenum Mucosa	Duodenum
44	chr22:31609600-31610600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr22:31609600-31610600	Weak transcription	Pancreas	Pancrea
46	chr22:31609600-31610800	Enhancers	Placenta	Placenta
47	chr22:31609600-31610800	Weak transcription	Fetal Stomach	stomach
48	chr22:31609600-31610800	Weak transcription	Lung	lung
49	chr22:31609600-31612200	Weak transcription	Primary T cells from cord blood	blood
50	chr22:31609600-31612200	Enhancers	Primary hematopoietic stem cells short term culture	blood

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