Variant report

Variant	rs7248374
Chromosome Location	chr19:44345739-44345740
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44341536..44343816-chr19:44343993..44346090,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16976829	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1906230	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7248346	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7258717	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs8107342	0.88[AFR][1000 genomes];0.89[AMR][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	nsv532821	chr19:43842383-44357315	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv458710	chr19:44339960-44410846	Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv579853	chr19:44339960-44410846	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44332800-44348200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr19:44332800-44357200	ZNF genes & repeats	Liver	Liver
3	chr19:44333600-44357400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr19:44334000-44347400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
5	chr19:44334000-44353200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr19:44335200-44346200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr19:44335200-44357200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr19:44335200-44368200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr19:44335400-44346000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr19:44335400-44357200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
11	chr19:44335400-44366600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
12	chr19:44336600-44357600	ZNF genes & repeats	Adipose Nuclei	Adipose
13	chr19:44336800-44353000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
14	chr19:44336800-44356800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
15	chr19:44336800-44357200	ZNF genes & repeats	Fetal Lung	lung
16	chr19:44337200-44347800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
17	chr19:44337800-44347600	ZNF genes & repeats	Fetal Muscle Leg	muscle
18	chr19:44338000-44349600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
19	chr19:44338000-44352800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr19:44339000-44349600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
21	chr19:44339000-44352800	ZNF genes & repeats	Rectal Smooth Muscle	rectum
22	chr19:44339000-44355400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
23	chr19:44339200-44347600	ZNF genes & repeats	Fetal Brain Female	brain
24	chr19:44339200-44347600	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
25	chr19:44339200-44348000	ZNF genes & repeats	Colonic Mucosa	Colon
26	chr19:44339200-44348200	ZNF genes & repeats	Psoas Muscle	Psoas
27	chr19:44339200-44348400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr19:44339200-44349000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
29	chr19:44339200-44349000	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
30	chr19:44339200-44349400	ZNF genes & repeats	A549	lung
31	chr19:44339200-44349600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
32	chr19:44339200-44349600	ZNF genes & repeats	Brain Angular Gyrus	brain
33	chr19:44339200-44355400	ZNF genes & repeats	Primary B cells from cord blood	blood
34	chr19:44339200-44355400	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
35	chr19:44339200-44357200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr19:44339400-44347000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
37	chr19:44339400-44347800	ZNF genes & repeats	Brain Germinal Matrix	brain
38	chr19:44339400-44348200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr19:44339400-44349600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
40	chr19:44339400-44349600	ZNF genes & repeats	Brain Substantia Nigra	brain
41	chr19:44339400-44350200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
42	chr19:44339400-44352600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
43	chr19:44339400-44352600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
44	chr19:44339400-44355400	ZNF genes & repeats	Primary T cells from cord blood	blood
45	chr19:44339400-44355600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr19:44339600-44355400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
47	chr19:44339800-44348000	ZNF genes & repeats	Colon Smooth Muscle	Colon
48	chr19:44340400-44348000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
49	chr19:44340800-44347600	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
50	chr19:44340800-44350000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin

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