Variant report

Variant	rs2722700
Chromosome Location	chr19:44951405-44951406
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:44943302..44945039-chr19:44949039..44951597,2	MCF-7	breast:
2	chr19:44945678..44948451-chr19:44948958..44951509,3	MCF-7	breast:
3	chr19:44699013..44701606-chr19:44950381..44952368,2	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1434577	1.00[ASW][hapmap];1.00[MEX][hapmap]
rs1727731	1.00[ASW][hapmap];1.00[MKK][hapmap]
rs2020083	1.00[ASW][hapmap]
rs2293164	1.00[ASW][hapmap]
rs2466416	0.88[ASN][1000 genomes]
rs2571157	0.93[EUR][1000 genomes]
rs2571158	0.90[CHB][hapmap];0.83[JPT][hapmap];0.83[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs2571159	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2571160	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs2571161	1.00[ASN][1000 genomes]
rs2571162	0.90[CHB][hapmap];0.89[JPT][hapmap];0.99[ASN][1000 genomes]
rs2571163	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[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2571164	1.00[ASN][1000 genomes]
rs2571165	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs2571166	0.98[ASN][1000 genomes]
rs2571169	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2571170	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2571174	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2722693	0.97[ASN][1000 genomes]
rs2722697	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2722698	0.90[CHB][hapmap];0.94[JPT][hapmap]
rs2722699	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2722701	0.91[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs2722702	1.00[ASW][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs2734453	1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap];1.00[MKK][hapmap];0.97[ASN][1000 genomes]
rs2734457	0.97[ASN][1000 genomes]
rs4802224	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912112	chr19:44853707-45011727	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv912114	chr19:44858776-45002563	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv1061350	chr19:44869075-45035469	Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44928400-44951800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr19:44932000-44953200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
3	chr19:44936400-44952000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr19:44937400-44951800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr19:44938400-44951800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr19:44938800-44951600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr19:44940600-44951800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr19:44940600-44951800	Weak transcription	Fetal Thymus	thymus
9	chr19:44942200-44951800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr19:44942600-44952000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr19:44944400-44952200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
12	chr19:44944600-44952200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
13	chr19:44945600-44951800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr19:44946200-44951800	Weak transcription	HUVEC	blood vessel
15	chr19:44946400-44953000	ZNF genes & repeats	Aorta	Aorta
16	chr19:44947000-44951800	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr19:44947800-44951800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr19:44948200-44951600	ZNF genes & repeats	Fetal Lung	lung
19	chr19:44948200-44951800	ZNF genes & repeats	A549	lung
20	chr19:44948200-44959800	ZNF genes & repeats	Liver	Liver
21	chr19:44948400-44951600	Strong transcription	HSMM	muscle
22	chr19:44948400-44952200	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
23	chr19:44948600-44953200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
24	chr19:44948800-44951800	Strong transcription	Fetal Intestine Large	intestine
25	chr19:44948800-44951800	Weak transcription	NH-A	brain
26	chr19:44949400-44951600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
27	chr19:44949400-44951600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr19:44949400-44951600	Weak transcription	Colon Smooth Muscle	Colon
29	chr19:44949600-44951600	ZNF genes & repeats	Psoas Muscle	Psoas
30	chr19:44949600-44954200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
31	chr19:44949800-44951800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr19:44949800-44951800	ZNF genes & repeats	Primary T cells from cord blood	blood
33	chr19:44950000-44952000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
34	chr19:44950200-44951600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr19:44950400-44951600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr19:44950400-44951600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr19:44950400-44951600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr19:44950400-44951600	Weak transcription	Fetal Intestine Small	intestine
39	chr19:44950400-44951800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr19:44950400-44951800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr19:44950400-44951800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr19:44950400-44951800	Weak transcription	Esophagus	oesophagus
43	chr19:44950400-44951800	Weak transcription	Placenta	Placenta
44	chr19:44950400-44951800	Weak transcription	Fetal Stomach	stomach
45	chr19:44950400-44951800	Weak transcription	Left Ventricle	heart
46	chr19:44950400-44951800	Weak transcription	Pancreas	Pancrea
47	chr19:44951000-44951600	Weak transcription	NHLF	lung
48	chr19:44951000-44951800	Weak transcription	Brain Substantia Nigra	brain
49	chr19:44951000-44951800	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr19:44951000-44951800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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