Variant report

Variant	rs17823065
Chromosome Location	chr2:46988073-46988074
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	chr2:46924903..46927573-chr2:46987073..46989521,2	K562	blood:

Variant related genes	Relation type
ENSG00000171150	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10495937	1.00[ASN][1000 genomes]
rs1446496	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1446497	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1446498	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17035524	1.00[ASN][1000 genomes]
rs17035709	0.80[CEU][hapmap]
rs17771017	0.80[CEU][hapmap]
rs17771098	1.00[ASN][1000 genomes]
rs17771201	1.00[ASN][1000 genomes]
rs17771942	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17772285	0.86[AMR][1000 genomes]
rs17773016	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17821989	0.86[AMR][1000 genomes]
rs17822782	0.86[AMR][1000 genomes]
rs17823581	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17824594	1.00[ASW][hapmap];0.80[CEU][hapmap];1.00[CHB][hapmap]
rs2045290	0.86[AMR][1000 genomes]
rs41453849	0.83[ASN][1000 genomes]
rs41489952	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55928499	1.00[ASN][1000 genomes]
rs56060227	0.83[ASN][1000 genomes]
rs56199036	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56800355	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57124017	1.00[ASN][1000 genomes]
rs57420323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58200475	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58362257	0.83[ASN][1000 genomes]
rs58509367	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58903656	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59186028	1.00[ASN][1000 genomes]
rs59785662	1.00[ASN][1000 genomes]
rs59882453	0.83[ASN][1000 genomes]
rs60506146	1.00[ASN][1000 genomes]
rs61075718	0.83[ASN][1000 genomes]
rs61654472	0.83[ASN][1000 genomes]
rs72802420	0.86[AMR][1000 genomes]
rs72802426	0.86[AMR][1000 genomes]
rs72802441	1.00[ASN][1000 genomes]
rs72802445	1.00[ASN][1000 genomes]
rs72802448	0.86[AMR][1000 genomes]
rs72802451	0.86[AMR][1000 genomes]
rs72802454	0.86[AMR][1000 genomes]
rs72802455	0.86[AMR][1000 genomes]
rs72802456	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72802458	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72802462	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72802463	1.00[ASN][1000 genomes]
rs72802464	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72802465	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72802466	0.86[AMR][1000 genomes]
rs72802467	0.86[AMR][1000 genomes]
rs72802468	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72802469	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72802470	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72802486	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72802487	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72802492	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72802493	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72802498	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72802499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72802501	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72802502	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72804404	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72804430	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7566275	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7578911	1.00[ASN][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	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers 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 target site	31 gene(s)	inside rSNPs	diseases
2	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats 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 miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS 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 miRNA target site	152 gene(s)	inside rSNPs	diseases
5	nsv1013079	chr2:46949337-46998417	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
6	nsv961404	chr2:46985967-46989160	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46969400-46988200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr2:46974600-46990000	Weak transcription	Colonic Mucosa	Colon
3	chr2:46976200-46990400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr2:46977000-46988400	Weak transcription	Brain Angular Gyrus	brain
5	chr2:46979600-46989600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr2:46980200-46988600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr2:46980400-46988400	Weak transcription	Right Ventricle	heart
8	chr2:46980800-46988800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr2:46981200-46988800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr2:46981200-46989600	Weak transcription	Small Intestine	intestine
11	chr2:46981200-46991000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr2:46981400-47006800	Weak transcription	Psoas Muscle	Psoas
13	chr2:46981600-46988200	Weak transcription	HMEC	breast
14	chr2:46981600-46988400	Weak transcription	NHEK	skin
15	chr2:46981800-46993200	Weak transcription	Fetal Heart	heart
16	chr2:46982200-46988800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr2:46983200-46990400	Strong transcription	Osteobl	bone
18	chr2:46983600-46988600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr2:46983600-46989600	Weak transcription	Colon Smooth Muscle	Colon
20	chr2:46984400-46998600	Weak transcription	Fetal Brain Male	brain
21	chr2:46985000-46990200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:46985200-46988200	Strong transcription	HepG2	liver
23	chr2:46985200-46991400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:46985400-46988200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr2:46985400-46988200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr2:46985400-46988200	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr2:46985600-46988200	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr2:46985600-46998600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:46985600-47008200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:46986600-46988200	Strong transcription	Brain Inferior Temporal Lobe	brain
31	chr2:46986800-46989600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr2:46987000-46988800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:46987000-46993000	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr2:46987200-46988600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:46987200-46988800	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr2:46987200-46988800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr2:46987200-46989000	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr2:46987200-46989000	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr2:46987200-46989000	Weak transcription	Adipose Nuclei	Adipose
40	chr2:46987200-46989000	Weak transcription	Brain Germinal Matrix	brain
41	chr2:46987200-46989000	Weak transcription	Brain Substantia Nigra	brain
42	chr2:46987200-46989000	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr2:46987200-46989000	Weak transcription	Dnd41	blood
44	chr2:46987200-46990200	Weak transcription	Placenta	Placenta
45	chr2:46987200-46995000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr2:46987200-46996200	Weak transcription	Stomach Smooth Muscle	stomach
47	chr2:46987200-46997800	Weak transcription	Liver	Liver
48	chr2:46987400-46989000	Weak transcription	Primary B cells from peripheral blood	blood
49	chr2:46987400-46989000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr2:46987400-46989000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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