Variant report

Variant	rs2112921
Chromosome Location	chr19:37955134-37955135
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:37861003..37862628-chr19:37955117..37957748,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000189164	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11083424	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2305115	0.93[EUR][1000 genomes]
rs2921563	0.93[EUR][1000 genomes]
rs2972597	0.93[EUR][1000 genomes]
rs2972598	0.93[EUR][1000 genomes]
rs45505797	0.86[EUR][1000 genomes]
rs56743641	0.93[EUR][1000 genomes]
rs56917663	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59957425	0.93[EUR][1000 genomes]
rs60159855	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61290534	0.87[EUR][1000 genomes]
rs6508718	0.87[EUR][1000 genomes]
rs6508720	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7247654	0.93[EUR][1000 genomes]
rs7254780	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7255938	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7259321	0.97[EUR][1000 genomes]
rs73930999	0.86[EUR][1000 genomes]
rs8100308	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8109806	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8110164	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv2757695	chr19:37794850-38051606	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	esv2758759	chr19:37794850-38051606	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1057688	chr19:37828019-37988253	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv833819	chr19:37899501-38051599	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37898000-37956400	ZNF genes & repeats	Liver	Liver
2	chr19:37910800-37956000	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr19:37938000-37956000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr19:37938200-37956200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
5	chr19:37940800-37956800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr19:37942400-37956000	ZNF genes & repeats	Fetal Lung	lung
7	chr19:37942400-37956200	ZNF genes & repeats	Fetal Brain Female	brain
8	chr19:37942400-37957200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr19:37942600-37956000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr19:37942600-37956600	ZNF genes & repeats	Dnd41	blood
11	chr19:37943600-37956800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr19:37944200-37957000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr19:37944600-37956200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
14	chr19:37944600-37956400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr19:37944600-37957000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
16	chr19:37944800-37956200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr19:37944800-37956200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
18	chr19:37944800-37957000	ZNF genes & repeats	A549	lung
19	chr19:37946200-37957400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr19:37946800-37956800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr19:37946800-37957000	Weak transcription	NH-A	brain
22	chr19:37946800-37957200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr19:37947600-37955600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr19:37949200-37955800	ZNF genes & repeats	Primary B cells from cord blood	blood
25	chr19:37949600-37957000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr19:37950000-37955400	Weak transcription	HUVEC	blood vessel
27	chr19:37950400-37955400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr19:37950600-37955400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr19:37950800-37956200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr19:37951000-37956000	ZNF genes & repeats	Ovary	ovary
31	chr19:37951200-37956200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
32	chr19:37951400-37957400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr19:37951600-37956000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr19:37951600-37957200	Weak transcription	Esophagus	oesophagus
35	chr19:37951600-37957400	Weak transcription	Gastric	stomach
36	chr19:37951800-37956200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr19:37951800-37957200	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr19:37951800-37957200	Weak transcription	Colonic Mucosa	Colon
39	chr19:37952200-37955600	Strong transcription	Placenta	Placenta
40	chr19:37952200-37956000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr19:37952200-37956000	Strong transcription	Thymus	Thymus
42	chr19:37952600-37956000	ZNF genes & repeats	HSMM	muscle
43	chr19:37952800-37955400	Weak transcription	NHLF	lung
44	chr19:37952800-37956200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr19:37952800-37956200	Strong transcription	Skeletal Muscle Male	skeletal muscle
46	chr19:37953000-37956000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr19:37953200-37955400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr19:37953200-37955400	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr19:37953200-37955400	Weak transcription	Lung	lung
50	chr19:37953200-37956000	Strong transcription	Osteobl	bone

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