Variant report

Variant	rs2277559
Chromosome Location	chr15:40453307-40453308
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:40401050..40404743-chr15:40451589..40454397,3	K562	blood:
2	chr15:40396774..40397601-chr15:40453279..40454245,2	K562	blood:
3	chr15:40074957..40076542-chr15:40453095..40454705,2	K562	blood:
4	chr15:40453162..40454809-chr15:40641409..40643606,2	K562	blood:
5	chr15:40453094..40453766-chr17:56406628..56407587,2	NB4	blood:
6	chr15:40355705..40358626-chr15:40451633..40453971,2	K562	blood:
7	chr12:49524973..49525506-chr15:40453128..40453715,2	HCT-116	colon:
8	chr15:40399053..40404293-chr15:40451574..40455090,8	MCF-7	breast:
9	chr15:40452220..40455176-chr15:40475826..40477725,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000156970	Chromatin interaction
ENSG00000258017	Chromatin interaction
ENSG00000150667	Chromatin interaction
ENSG00000265148	Chromatin interaction
ENSG00000248508	Chromatin interaction
ENSG00000233041	Chromatin interaction
ENSG00000123416	Chromatin interaction
ENSG00000104081	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10518681	0.96[EUR][1000 genomes]
rs10518682	0.93[CEU][hapmap];0.83[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11632939	0.94[CEU][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11634034	0.85[EUR][1000 genomes]
rs11636402	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11637268	0.92[EUR][1000 genomes]
rs11638942	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11854027	0.96[EUR][1000 genomes]
rs11854103	0.96[EUR][1000 genomes]
rs11854965	0.96[EUR][1000 genomes]
rs12438986	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12898627	0.93[EUR][1000 genomes]
rs12899779	0.94[EUR][1000 genomes]
rs12902191	0.96[EUR][1000 genomes]
rs12908093	0.96[EUR][1000 genomes]
rs12910199	0.95[EUR][1000 genomes]
rs12911157	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12913620	0.95[EUR][1000 genomes]
rs12913741	0.95[EUR][1000 genomes]
rs12913803	0.94[EUR][1000 genomes]
rs12915249	0.94[CEU][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12916901	0.96[EUR][1000 genomes]
rs1471583	0.96[EUR][1000 genomes]
rs1565863	0.96[EUR][1000 genomes]
rs1565864	0.96[EUR][1000 genomes]
rs1565865	0.96[EUR][1000 genomes]
rs16970409	0.96[EUR][1000 genomes]
rs1801376	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2412480	0.96[EUR][1000 genomes]
rs2412482	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3214012	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34358001	0.95[EUR][1000 genomes]
rs4244573	0.96[EUR][1000 genomes]
rs4244574	0.96[EUR][1000 genomes]
rs4923857	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4924419	0.94[EUR][1000 genomes]
rs4924420	0.95[EUR][1000 genomes]
rs4924424	0.96[EUR][1000 genomes]
rs4924427	0.92[EUR][1000 genomes]
rs4924430	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4924432	0.94[ASN][1000 genomes]
rs492813	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs500693	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs521896	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs537455	0.82[CEU][hapmap]
rs597752	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6492932	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6492935	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7162894	0.88[EUR][1000 genomes]
rs7164047	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7169518	0.83[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7170412	0.82[EUR][1000 genomes]
rs7177759	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs797420	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8037190	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs811746	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40452600-40453400	Active TSS	Brain Angular Gyrus	brain
2	chr15:40452600-40453400	Active TSS	Monocytes-CD14+_RO01746	blood
3	chr15:40452600-40455000	Active TSS	A549	lung
4	chr15:40452600-40455800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr15:40452800-40453400	Active TSS	Brain Germinal Matrix	brain
6	chr15:40452800-40453400	Active TSS	Brain Substantia Nigra	brain
7	chr15:40452800-40453400	Active TSS	Fetal Muscle Leg	muscle
8	chr15:40452800-40453600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
9	chr15:40452800-40453600	Flanking Active TSS	Liver	Liver
10	chr15:40452800-40453600	Active TSS	Brain Hippocampus Middle	brain
11	chr15:40452800-40453600	Active TSS	Psoas Muscle	Psoas
12	chr15:40452800-40453800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
13	chr15:40452800-40453800	Flanking Active TSS	Primary B cells from peripheral blood	blood
14	chr15:40452800-40453800	Flanking Active TSS	Adipose Nuclei	Adipose
15	chr15:40452800-40453800	Active TSS	Brain Anterior Caudate	brain
16	chr15:40452800-40453800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
17	chr15:40452800-40454000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr15:40452800-40454000	Active TSS	Primary T helper naive cells from peripheral blood	blood
19	chr15:40452800-40454000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr15:40452800-40454000	Active TSS	HSMMtube	muscle
21	chr15:40452800-40454200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr15:40452800-40454200	Active TSS	NHDF-Ad	bronchial
23	chr15:40452800-40454400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr15:40452800-40454400	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr15:40452800-40454600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr15:40452800-40454600	Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr15:40452800-40454600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr15:40452800-40455000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr15:40452800-40455200	Active TSS	H9 Cell Line	embryonic stem cell
30	chr15:40452800-40455400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr15:40452800-40455400	Active TSS	Fetal Brain Female	brain
32	chr15:40452800-40455400	Active TSS	HSMM	muscle
33	chr15:40453000-40453400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr15:40453000-40453400	Active TSS	Primary B cells from cord blood	blood
35	chr15:40453000-40453400	Active TSS	Primary T cells from cord blood	blood
36	chr15:40453000-40453400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
37	chr15:40453000-40453400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
38	chr15:40453000-40453400	Active TSS	Primary T helper cells fromperipheralblood	blood
39	chr15:40453000-40453400	Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr15:40453000-40453400	Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr15:40453000-40453400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr15:40453000-40453400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr15:40453000-40453400	Active TSS	Brain Cingulate Gyrus	brain
44	chr15:40453000-40453400	Active TSS	Duodenum Mucosa	Duodenum
45	chr15:40453000-40453400	Active TSS	Esophagus	oesophagus
46	chr15:40453000-40453400	Active TSS	Pancreas	Pancrea
47	chr15:40453000-40453600	Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr15:40453000-40453600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr15:40453000-40453600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr15:40453000-40453600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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