Variant report

Variant	rs7260625
Chromosome Location	chr19:37974179-37974180
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	chr19:37973959..37975963-chr19:37997156..37999321,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000266916	Chromatin interaction
ENSG00000188227	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs6508730	1.00[AMR][1000 genomes]
rs6508731	1.00[AMR][1000 genomes]
rs7245717	1.00[ASW][hapmap];0.85[YRI][hapmap]
rs7250440	0.82[ASW][hapmap];0.90[LWK][hapmap];1.00[YRI][hapmap]
rs7257174	1.00[ASW][hapmap];1.00[MEX][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs7258798	1.00[YRI][hapmap]
rs7259754	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8103087	1.00[ASW][hapmap];0.85[YRI][hapmap]
rs8104809	0.85[YRI][hapmap];0.84[AFR][1000 genomes]
rs8108658	1.00[AMR][1000 genomes]
rs8108739	1.00[ASW][hapmap];0.85[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	nsv1056753	chr19:37963714-38015943	Weak transcription Active TSS Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7260625	HOXB2	trans	lymphoblastoid	seeQTL
rs7260625	ABHD15	trans	lymphoblastoid	seeQTL

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37961400-37980400	ZNF genes & repeats	Liver	Liver
2	chr19:37962200-37976200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr19:37962200-37976400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
4	chr19:37962200-37977800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr19:37962200-37977800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr19:37962400-37977600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
7	chr19:37962400-37979200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr19:37963200-37976600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
9	chr19:37963200-37981000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr19:37963800-37976400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
11	chr19:37963800-37985600	ZNF genes & repeats	Adipose Nuclei	Adipose
12	chr19:37964000-37976400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
13	chr19:37964200-37977600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
14	chr19:37966200-37976400	ZNF genes & repeats	Primary T cells from cord blood	blood
15	chr19:37966200-37979200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
16	chr19:37966200-37984000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
17	chr19:37966400-37976800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
18	chr19:37966600-37976000	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
19	chr19:37966600-37976200	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
20	chr19:37966600-37977800	ZNF genes & repeats	Fetal Lung	lung
21	chr19:37966600-37977800	ZNF genes & repeats	Dnd41	blood
22	chr19:37966800-37977600	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr19:37969400-37977400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
24	chr19:37969400-37978200	ZNF genes & repeats	Brain Hippocampus Middle	brain
25	chr19:37969600-37975800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr19:37969800-37976400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
27	chr19:37970200-37978000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr19:37970200-37979000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr19:37970800-37977800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
30	chr19:37971000-37974200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr19:37971000-37974200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
32	chr19:37971000-37974200	ZNF genes & repeats	Spleen	Spleen
33	chr19:37971000-37975800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr19:37971000-37976000	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
35	chr19:37971000-37976200	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
36	chr19:37971000-37976200	ZNF genes & repeats	Brain Cingulate Gyrus	brain
37	chr19:37971000-37976400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr19:37971000-37976600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
39	chr19:37971000-37977000	ZNF genes & repeats	Left Ventricle	heart
40	chr19:37971000-37977000	ZNF genes & repeats	Ovary	ovary
41	chr19:37971000-37977200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr19:37971000-37977800	ZNF genes & repeats	Brain Germinal Matrix	brain
43	chr19:37971000-37979200	ZNF genes & repeats	Fetal Brain Female	brain
44	chr19:37971200-37976600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
45	chr19:37971400-37976000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
46	chr19:37971400-37976200	ZNF genes & repeats	Primary B cells from cord blood	blood
47	chr19:37971400-37976400	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
48	chr19:37971600-37974200	ZNF genes & repeats	Pancreas	Pancrea
49	chr19:37971600-37974400	ZNF genes & repeats	Fetal Intestine Large	intestine
50	chr19:37971600-37976000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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