Variant report

Variant	rs719749
Chromosome Location	chr12:57326438-57326439
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57318495..57320635-chr12:57323936..57326743,2	K562	blood:
2	chr12:57325326..57326887-chr12:57330449..57332916,2	K562	blood:
3	chr12:57302260..57303849-chr12:57325166..57326787,2	MCF-7	breast:
4	chr12:57325090..57327714-chr12:57331602..57333568,3	MCF-7	breast:
5	chr12:57324317..57327083-chr12:57327867..57330911,4	MCF-7	breast:
6	chr12:57324104..57327319-chr12:57348172..57351129,3	MCF-7	breast:
7	chr12:57325236..57327206-chr12:57341575..57344080,3	MCF-7	breast:
8	chr12:57319135..57322195-chr12:57322954..57326796,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000170426	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1072669	0.85[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs10876960	0.84[CHB][hapmap];0.85[ASN][1000 genomes]
rs11172071	0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs11172072	0.88[ASN][1000 genomes]
rs11172076	0.83[ASN][1000 genomes]
rs1601405	0.85[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs17119173	0.82[JPT][hapmap]
rs1825514	0.85[ASN][1000 genomes]
rs1872436	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2629413	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3782331	0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs57926126	0.85[ASN][1000 genomes]
rs58009868	0.85[ASN][1000 genomes]
rs59665366	0.85[ASN][1000 genomes]
rs60101051	0.85[ASN][1000 genomes]
rs719750	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7314055	0.88[JPT][hapmap]
rs7314151	0.85[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs7314262	0.85[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs7970701	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs840160	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs840162	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs840163	0.85[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs844469	0.88[JPT][hapmap]
rs863459	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs864541	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs901069	0.85[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers 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 miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	nsv1043846	chr12:57323709-57377509	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57316400-57326800	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr12:57321400-57327200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr12:57321400-57328400	Enhancers	Fetal Thymus	thymus
4	chr12:57322000-57328800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:57324400-57326600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:57324800-57328000	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr12:57325200-57326600	Enhancers	Primary T cells from cord blood	blood
8	chr12:57325200-57327000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:57325200-57327200	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr12:57325200-57327200	Enhancers	NHEK	skin
11	chr12:57325400-57326600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr12:57325400-57326600	Enhancers	Adipose Nuclei	Adipose
13	chr12:57325400-57326600	Enhancers	Fetal Lung	lung
14	chr12:57325400-57326800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:57325400-57326800	Enhancers	Primary hematopoietic stem cells	blood
16	chr12:57325400-57326800	Enhancers	Fetal Intestine Small	intestine
17	chr12:57325400-57326800	Enhancers	Fetal Kidney	kidney
18	chr12:57325400-57327000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:57325400-57327200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr12:57325400-57327200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr12:57325400-57327200	Enhancers	HMEC	breast
22	chr12:57325400-57327200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr12:57325400-57327400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr12:57325400-57327600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr12:57325400-57329400	Enhancers	Placenta	Placenta
26	chr12:57325600-57327000	Enhancers	Liver	Liver
27	chr12:57325600-57327000	Enhancers	Lung	lung
28	chr12:57325600-57327200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr12:57325800-57326800	Weak transcription	Esophagus	oesophagus
30	chr12:57325800-57327800	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr12:57325800-57335200	Weak transcription	Fetal Intestine Large	intestine
32	chr12:57326000-57328200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr12:57326200-57327000	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr12:57326400-57326800	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr12:57326400-57327000	Enhancers	Spleen	Spleen
36	chr12:57326400-57327600	Enhancers	K562	blood
37	chr12:57326400-57328800	Weak transcription	A549	lung
38	chr12:57326400-57335200	Weak transcription	Placenta Amnion	Placenta Amnion

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