Variant report

Variant	rs72617294
Chromosome Location	chr22:31610200-31610201
allele	A/C
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
ENSG00000100100	Chromatin interaction
ENSG00000228839	Chromatin interaction
ENSG00000202019	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1034587	0.83[ASN][1000 genomes]
rs10428007	0.91[ASN][1000 genomes]
rs11089491	0.88[ASN][1000 genomes]
rs12106582	0.82[ASN][1000 genomes]
rs12627941	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12628752	0.94[ASN][1000 genomes]
rs17220369	0.91[ASN][1000 genomes]
rs2072193	1.00[AFR][1000 genomes]
rs2073858	0.89[ASN][1000 genomes]
rs2074735	1.00[AFR][1000 genomes]
rs2239905	0.89[ASN][1000 genomes]
rs2239906	0.89[ASN][1000 genomes]
rs2267169	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2267170	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2267171	0.91[ASN][1000 genomes]
rs2283878	0.91[ASN][1000 genomes]
rs2283880	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2413041	0.94[ASN][1000 genomes]
rs28514306	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28709894	0.81[ASN][1000 genomes]
rs34184692	0.95[ASN][1000 genomes]
rs4561750	0.81[ASN][1000 genomes]
rs4615	0.85[ASN][1000 genomes]
rs4820949	0.80[ASN][1000 genomes]
rs4820952	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4820964	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4820965	0.84[ASN][1000 genomes]
rs55737363	0.81[ASN][1000 genomes]
rs55900008	0.93[ASN][1000 genomes]
rs5749226	0.81[ASN][1000 genomes]
rs5749231	0.89[ASN][1000 genomes]
rs5749232	0.95[ASN][1000 genomes]
rs5749237	0.91[ASN][1000 genomes]
rs5749244	0.90[ASN][1000 genomes]
rs5749254	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5749260	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5753487	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs5753518	0.90[ASN][1000 genomes]
rs5753528	0.91[ASN][1000 genomes]
rs5753531	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs5753550	0.86[ASN][1000 genomes]
rs5753551	0.86[ASN][1000 genomes]
rs5753559	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5753560	0.84[ASN][1000 genomes]
rs5753592	0.91[EUR][1000 genomes]
rs5753595	0.91[EUR][1000 genomes]
rs58315696	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5997940	0.83[ASN][1000 genomes]
rs61006749	0.94[ASN][1000 genomes]
rs62237396	0.81[ASN][1000 genomes]
rs62237398	0.81[ASN][1000 genomes]
rs62237399	0.81[ASN][1000 genomes]
rs62237400	0.81[ASN][1000 genomes]
rs62237404	0.95[ASN][1000 genomes]
rs62237436	0.91[ASN][1000 genomes]
rs68136222	0.91[ASN][1000 genomes]
rs72617295	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72617298	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73158522	0.91[ASN][1000 genomes]
rs737809	0.91[ASN][1000 genomes]
rs886074	0.81[ASN][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:119 , 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	chr22:31609200-31610400	Weak transcription	HSMMtube	muscle
5	chr22:31609200-31613600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr22:31609200-31613800	Weak transcription	Fetal Kidney	kidney
7	chr22:31609200-31613800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr22:31609200-31613800	Weak transcription	NH-A	brain
9	chr22:31609200-31614400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr22:31609200-31614600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr22:31609200-31615000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr22:31609200-31616200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr22:31609200-31619600	Weak transcription	Brain Substantia Nigra	brain
14	chr22:31609200-31629000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr22:31609400-31610400	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr22:31609400-31610400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr22:31609400-31610600	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr22:31609400-31610800	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr22:31609400-31611600	Enhancers	Liver	Liver
20	chr22:31609400-31612200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr22:31609400-31612400	Weak transcription	Fetal Muscle Leg	muscle
22	chr22:31609400-31613000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr22:31609400-31613400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr22:31609400-31613800	Weak transcription	NHEK	skin
25	chr22:31609400-31614600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr22:31609400-31614600	Weak transcription	Left Ventricle	heart
27	chr22:31609400-31614800	Weak transcription	NHDF-Ad	bronchial
28	chr22:31609400-31615000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr22:31609400-31616200	Weak transcription	A549	lung
30	chr22:31609400-31617800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr22:31609400-31619000	Weak transcription	HSMM	muscle
32	chr22:31609400-31619600	Weak transcription	Brain Angular Gyrus	brain
33	chr22:31609400-31621800	Weak transcription	Fetal Brain Female	brain
34	chr22:31609400-31625400	Weak transcription	NHLF	lung
35	chr22:31609400-31625400	Weak transcription	Osteobl	bone
36	chr22:31609600-31610200	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr22:31609600-31610200	Active TSS	Rectal Mucosa Donor 31	rectum
38	chr22:31609600-31610200	Weak transcription	Stomach Mucosa	stomach
39	chr22:31609600-31610400	Active TSS	Duodenum Mucosa	Duodenum
40	chr22:31609600-31610600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr22:31609600-31610600	Weak transcription	Pancreas	Pancrea
42	chr22:31609600-31610800	Enhancers	Placenta	Placenta
43	chr22:31609600-31610800	Weak transcription	Fetal Stomach	stomach
44	chr22:31609600-31610800	Weak transcription	Lung	lung
45	chr22:31609600-31612200	Weak transcription	Primary T cells from cord blood	blood
46	chr22:31609600-31612200	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr22:31609600-31612400	Weak transcription	Esophagus	oesophagus
48	chr22:31609600-31612400	Weak transcription	Gastric	stomach
49	chr22:31609600-31612400	Active TSS	Rectal Smooth Muscle	rectum
50	chr22:31609600-31612600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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