Variant report

Variant	rs72923197
Chromosome Location	chr2:55583512-55583513
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	chr2:55579484..55583558-chr2:55584922..55587594,3	K562	blood:

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10153861	1.00[EUR][1000 genomes]
rs10181997	1.00[EUR][1000 genomes]
rs10184362	1.00[EUR][1000 genomes]
rs10186158	1.00[EUR][1000 genomes]
rs10199332	1.00[EUR][1000 genomes]
rs10201075	1.00[EUR][1000 genomes]
rs10202943	1.00[EUR][1000 genomes]
rs10209908	1.00[EUR][1000 genomes]
rs13383527	1.00[EUR][1000 genomes]
rs13384739	1.00[EUR][1000 genomes]
rs13389151	1.00[EUR][1000 genomes]
rs13389799	1.00[EUR][1000 genomes]
rs13390100	1.00[EUR][1000 genomes]
rs13398447	1.00[EUR][1000 genomes]
rs13402277	1.00[EUR][1000 genomes]
rs13404740	1.00[EUR][1000 genomes]
rs13405460	1.00[EUR][1000 genomes]
rs13406929	1.00[EUR][1000 genomes]
rs13408706	1.00[EUR][1000 genomes]
rs13411077	1.00[EUR][1000 genomes]
rs13411257	1.00[EUR][1000 genomes]
rs13412682	1.00[EUR][1000 genomes]
rs13416519	1.00[EUR][1000 genomes]
rs13417988	1.00[EUR][1000 genomes]
rs13419337	1.00[EUR][1000 genomes]
rs13424499	1.00[EUR][1000 genomes]
rs13426160	1.00[EUR][1000 genomes]
rs13426766	1.00[EUR][1000 genomes]
rs13429863	1.00[EUR][1000 genomes]
rs17046801	1.00[EUR][1000 genomes]
rs17046820	1.00[EUR][1000 genomes]
rs17046828	1.00[EUR][1000 genomes]
rs17046829	1.00[EUR][1000 genomes]
rs17046835	1.00[EUR][1000 genomes]
rs17046837	1.00[EUR][1000 genomes]
rs17046881	1.00[EUR][1000 genomes]
rs17046896	1.00[EUR][1000 genomes]
rs17046898	1.00[EUR][1000 genomes]
rs17046954	1.00[EUR][1000 genomes]
rs17046959	1.00[EUR][1000 genomes]
rs17046963	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17046964	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17264948	1.00[EUR][1000 genomes]
rs2043716	1.00[EUR][1000 genomes]
rs28434193	1.00[EUR][1000 genomes]
rs28498550	1.00[EUR][1000 genomes]
rs3861571	1.00[EUR][1000 genomes]
rs3975804	1.00[EUR][1000 genomes]
rs56201519	1.00[EUR][1000 genomes]
rs57623398	1.00[EUR][1000 genomes]
rs59695161	1.00[EUR][1000 genomes]
rs60920006	1.00[EUR][1000 genomes]
rs6545485	1.00[EUR][1000 genomes]
rs6545486	1.00[EUR][1000 genomes]
rs6704701	1.00[EUR][1000 genomes]
rs6707774	1.00[EUR][1000 genomes]
rs6710128	1.00[EUR][1000 genomes]
rs6714932	1.00[EUR][1000 genomes]
rs6715991	1.00[EUR][1000 genomes]
rs6719677	1.00[EUR][1000 genomes]
rs6726757	1.00[EUR][1000 genomes]
rs6729144	1.00[EUR][1000 genomes]
rs6734415	1.00[EUR][1000 genomes]
rs6735009	1.00[EUR][1000 genomes]
rs6738517	1.00[EUR][1000 genomes]
rs6741630	1.00[EUR][1000 genomes]
rs6748541	1.00[EUR][1000 genomes]
rs6754036	1.00[EUR][1000 genomes]
rs6758229	1.00[EUR][1000 genomes]
rs6759625	1.00[EUR][1000 genomes]
rs6759763	1.00[EUR][1000 genomes]
rs6761771	1.00[EUR][1000 genomes]
rs72918961	1.00[EUR][1000 genomes]
rs72918964	1.00[EUR][1000 genomes]
rs72918965	1.00[EUR][1000 genomes]
rs72918972	1.00[EUR][1000 genomes]
rs72918975	1.00[EUR][1000 genomes]
rs72923130	1.00[EUR][1000 genomes]
rs72923156	1.00[EUR][1000 genomes]
rs72923157	1.00[EUR][1000 genomes]
rs72923183	1.00[EUR][1000 genomes]
rs72923187	1.00[EUR][1000 genomes]
rs72923194	1.00[EUR][1000 genomes]
rs72924917	1.00[EUR][1000 genomes]
rs72924922	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72927340	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72927384	1.00[EUR][1000 genomes]
rs72927388	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72929306	1.00[EUR][1000 genomes]
rs7561604	1.00[EUR][1000 genomes]
rs7562535	1.00[EUR][1000 genomes]
rs7577510	1.00[EUR][1000 genomes]
rs7589558	1.00[EUR][1000 genomes]
rs7594907	1.00[EUR][1000 genomes]
rs9309264	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874156	chr2:55474026-55636351	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv874158	chr2:55513738-55619923	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv874159	chr2:55513738-55636351	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv457941	chr2:55517491-55585915	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv582030	chr2:55517491-55585915	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1006170	chr2:55530179-55809251	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55510200-55616800	Weak transcription	Fetal Intestine Small	intestine
2	chr2:55518600-55591400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr2:55520400-55591200	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr2:55521400-55591000	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr2:55523000-55584400	Weak transcription	Aorta	Aorta
6	chr2:55523200-55584800	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr2:55523600-55600600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:55534200-55589400	Weak transcription	Pancreas	Pancrea
9	chr2:55537800-55609400	Weak transcription	Lung	lung
10	chr2:55541400-55584400	Weak transcription	Spleen	Spleen
11	chr2:55542400-55589800	Weak transcription	Fetal Intestine Large	intestine
12	chr2:55542400-55644800	Weak transcription	Primary T cells from cord blood	blood
13	chr2:55546200-55585000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr2:55547400-55590600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr2:55548200-55585000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:55554800-55584200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr2:55554800-55591600	Weak transcription	HSMMtube	muscle
18	chr2:55555200-55635800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:55555800-55586000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr2:55558400-55595000	Weak transcription	Fetal Heart	heart
21	chr2:55563600-55584400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr2:55564200-55605200	Weak transcription	Fetal Kidney	kidney
23	chr2:55572000-55610200	Weak transcription	Liver	Liver
24	chr2:55573800-55590800	Weak transcription	HUVEC	blood vessel
25	chr2:55574600-55591800	Weak transcription	HMEC	breast
26	chr2:55576000-55612200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr2:55576800-55590800	Weak transcription	NH-A	brain
28	chr2:55577600-55584400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr2:55577800-55584600	Strong transcription	Dnd41	blood
30	chr2:55578200-55584200	Strong transcription	Fetal Muscle Trunk	muscle
31	chr2:55578400-55590600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr2:55578600-55585200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr2:55579200-55585400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr2:55579200-55585400	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr2:55579200-55591200	Weak transcription	NHEK	skin
36	chr2:55579200-55591400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr2:55579200-55602200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr2:55579200-55640800	Weak transcription	Fetal Brain Male	brain
39	chr2:55579400-55584000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr2:55579400-55584200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr2:55579400-55586000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr2:55579400-55586200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr2:55579400-55586400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:55579400-55588600	Weak transcription	Brain Cingulate Gyrus	brain
45	chr2:55579400-55588600	Weak transcription	GM12878-XiMat	blood
46	chr2:55579400-55591600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:55579400-55592000	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr2:55579400-55596200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr2:55579400-55614400	Weak transcription	Fetal Brain Female	brain
50	chr2:55579400-55622400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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