Variant report

Variant	rs1049500
Chromosome Location	chr2:10580967-10580968
allele	C/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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:10579988..10583029-chr2:10585606..10587424,3	MCF-7	breast:
2	chr2:10359643..10362171-chr2:10579070..10581168,2	K562	blood:
3	chr2:10578985..10581205-chr2:10807616..10809942,2	K562	blood:
4	chr2:10579413..10581262-chr2:10676249..10678549,2	K562	blood:
5	chr2:10580061..10581971-chr2:10592893..10594912,2	MCF-7	breast:
6	chr2:10572413..10575727-chr2:10580317..10584324,3	MCF-7	breast:
7	chr2:10259215..10279610-chr2:10567557..10581613,45	K562	blood:
8	chr2:10260358..10263740-chr2:10578829..10581439,6	K562	blood:
9	chr2:10273861..10275654-chr2:10579400..10581613,2	K562	blood:
10	chr2:10580034..10581693-chr2:10583711..10585512,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000272524	Chromatin interaction
ENSG00000206633	Chromatin interaction
ENSG00000171848	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2009741	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2302614	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2302615	0.88[ASN][1000 genomes]
rs3752661	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59246308	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530829	chr2:10357105-10655131	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
2	nsv873643	chr2:10535481-10583160	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv873645	chr2:10537347-10612091	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
4	nsv1007185	chr2:10540386-10791743	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv873646	chr2:10550517-10612091	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
6	esv1840383	chr2:10569021-10588903	Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
7	nsv873647	chr2:10576424-10597858	Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10573000-10587400	Weak transcription	Right Atrium	heart
2	chr2:10573800-10586800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:10574400-10581600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:10575200-10581600	Weak transcription	Psoas Muscle	Psoas
5	chr2:10575800-10581600	Weak transcription	Fetal Heart	heart
6	chr2:10577200-10587800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:10577600-10584200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:10578000-10584600	Strong transcription	Fetal Brain Female	brain
9	chr2:10578200-10585200	Strong transcription	Brain Germinal Matrix	brain
10	chr2:10578400-10585000	Strong transcription	Thymus	Thymus
11	chr2:10578400-10585400	Strong transcription	Fetal Intestine Small	intestine
12	chr2:10578600-10584200	Strong transcription	Primary B cells from peripheral blood	blood
13	chr2:10578600-10584400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr2:10578600-10584600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:10578600-10585000	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr2:10578600-10585200	Strong transcription	HSMMtube	muscle
17	chr2:10578600-10585400	Strong transcription	Fetal Muscle Trunk	muscle
18	chr2:10578600-10585600	Strong transcription	A549	lung
19	chr2:10578800-10582000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:10578800-10584800	Strong transcription	NHLF	lung
21	chr2:10578800-10585000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:10578800-10585000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:10578800-10585000	Strong transcription	Gastric	stomach
24	chr2:10578800-10585200	Strong transcription	Muscle Satellite Cultured Cells	--
25	chr2:10578800-10585200	Strong transcription	Duodenum Mucosa	Duodenum
26	chr2:10578800-10585200	Strong transcription	Fetal Stomach	stomach
27	chr2:10578800-10585200	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr2:10578800-10585400	Strong transcription	Osteobl	bone
29	chr2:10578800-10585600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr2:10578800-10585600	Strong transcription	Primary T cells from cord blood	blood
31	chr2:10579000-10583400	Strong transcription	GM12878-XiMat	blood
32	chr2:10579000-10584400	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr2:10579000-10584600	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr2:10579000-10584600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr2:10579000-10584800	Strong transcription	Dnd41	blood
36	chr2:10579000-10585000	Strong transcription	Esophagus	oesophagus
37	chr2:10579000-10585000	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr2:10579000-10585000	Strong transcription	Spleen	Spleen
39	chr2:10579000-10585000	Strong transcription	NHEK	skin
40	chr2:10579000-10585200	Strong transcription	Brain Inferior Temporal Lobe	brain
41	chr2:10579000-10585200	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr2:10579000-10585200	Strong transcription	HepG2	liver
43	chr2:10579000-10585400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr2:10579000-10585400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr2:10579000-10585400	Strong transcription	Fetal Intestine Large	intestine
46	chr2:10579000-10585600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr2:10579000-10585600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr2:10579200-10584600	Strong transcription	K562	blood
49	chr2:10579200-10584800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr2:10579200-10585000	Strong transcription	Ovary	ovary

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