Variant report

Variant	rs2306578
Chromosome Location	chr15:72142619-72142620
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	chr15:72137846..72140290-chr15:72140971..72143287,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs12902160	1.00[AMR][1000 genomes]
rs12902421	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12905794	1.00[AMR][1000 genomes]
rs12905947	1.00[AMR][1000 genomes]
rs12906244	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12907359	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12910475	1.00[AMR][1000 genomes]
rs12910620	1.00[AMR][1000 genomes]
rs12910700	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12911278	1.00[AMR][1000 genomes]
rs12914208	1.00[AMR][1000 genomes]
rs12914936	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12915008	1.00[AMR][1000 genomes]
rs12916298	1.00[AMR][1000 genomes]
rs12916789	1.00[AMR][1000 genomes]
rs12917442	1.00[AMR][1000 genomes]
rs2277543	1.00[AMR][1000 genomes]
rs2291276	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2291277	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2306577	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28602607	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34343226	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34362323	1.00[AMR][1000 genomes]
rs34454276	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34481625	1.00[AMR][1000 genomes]
rs34638996	1.00[AMR][1000 genomes]
rs34705283	1.00[AMR][1000 genomes]
rs34846563	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35061524	1.00[AMR][1000 genomes]
rs35071085	1.00[AMR][1000 genomes]
rs35135570	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35136885	1.00[AMR][1000 genomes]
rs35144689	1.00[AMR][1000 genomes]
rs35145719	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35200902	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35259670	1.00[AMR][1000 genomes]
rs35288005	1.00[AMR][1000 genomes]
rs35362359	1.00[AMR][1000 genomes]
rs35408293	1.00[AMR][1000 genomes]
rs35554838	1.00[AMR][1000 genomes]
rs35836103	1.00[AMR][1000 genomes]
rs36032558	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3759815	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3759817	1.00[AMR][1000 genomes]
rs55935015	1.00[AMR][1000 genomes]
rs6494968	1.00[GIH][hapmap]
rs71395046	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs71395049	1.00[AMR][1000 genomes]
rs71395050	1.00[AMR][1000 genomes]
rs71395056	1.00[AMR][1000 genomes]
rs71395057	1.00[AMR][1000 genomes]
rs71395058	1.00[AMR][1000 genomes]
rs71395061	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904334	chr15:71737376-72177659	Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1036938	chr15:71948106-72272855	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	esv3331306	chr15:72049818-72427559	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	esv3433206	chr15:72049838-72427529	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv569906	chr15:72126034-72218036	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv516871	chr15:72126034-72325595	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv1042740	chr15:72128799-72482239	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	nsv542426	chr15:72128799-72482239	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 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	chr15:72114600-72190600	Weak transcription	Pancreas	Pancrea
2	chr15:72115800-72147000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr15:72116400-72147000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr15:72117000-72142800	Weak transcription	Stomach Mucosa	stomach
5	chr15:72119200-72171800	Weak transcription	Psoas Muscle	Psoas
6	chr15:72120600-72147400	Weak transcription	Small Intestine	intestine
7	chr15:72122200-72189400	Weak transcription	Right Ventricle	heart
8	chr15:72122400-72195000	Weak transcription	NHEK	skin
9	chr15:72122600-72144600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr15:72122600-72145600	Weak transcription	Thymus	Thymus
11	chr15:72122600-72171800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr15:72122600-72185200	Weak transcription	Esophagus	oesophagus
13	chr15:72122600-72195800	Weak transcription	Gastric	stomach
14	chr15:72124800-72145800	Weak transcription	Fetal Heart	heart
15	chr15:72129200-72148000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr15:72131200-72148200	Strong transcription	Placenta	Placenta
17	chr15:72131600-72147000	Strong transcription	Fetal Muscle Leg	muscle
18	chr15:72131800-72192800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr15:72132000-72145000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr15:72134000-72149000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr15:72135200-72143200	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr15:72135200-72146600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr15:72135200-72147600	Strong transcription	Primary T cells from cord blood	blood
24	chr15:72135600-72143800	Strong transcription	Brain Germinal Matrix	brain
25	chr15:72136000-72142800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr15:72136200-72148400	Strong transcription	Primary B cells from peripheral blood	blood
27	chr15:72136200-72148400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr15:72136200-72149000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr15:72136400-72143800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr15:72136400-72145600	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr15:72136400-72147000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr15:72136400-72147000	Strong transcription	Adipose Nuclei	Adipose
33	chr15:72136400-72148400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr15:72136600-72146600	Strong transcription	Fetal Muscle Trunk	muscle
35	chr15:72136800-72146400	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr15:72136800-72146400	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr15:72136800-72147000	Strong transcription	Primary B cells from cord blood	blood
38	chr15:72137000-72156400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr15:72137200-72143800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr15:72137400-72144200	Strong transcription	NHDF-Ad	bronchial
41	chr15:72137600-72143800	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr15:72137600-72144400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr15:72137800-72146000	Strong transcription	Fetal Lung	lung
44	chr15:72137800-72147000	Strong transcription	Stomach Smooth Muscle	stomach
45	chr15:72138200-72143000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr15:72138200-72144200	Strong transcription	Brain Anterior Caudate	brain
47	chr15:72138200-72146200	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr15:72138200-72172400	Weak transcription	HUVEC	blood vessel
49	chr15:72138400-72142800	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr15:72138400-72142800	Strong transcription	Osteobl	bone

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