Variant report

Variant	rs349040
Chromosome Location	chr19:44350189-44350190
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44325529..44327372-chr19:44349912..44351479,2	K562	blood:

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

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

rs_ID	r²[population]
rs10500288	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16976854	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs349030	0.82[CEU][hapmap]
rs349039	0.91[CEU][hapmap];0.82[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.91[TSI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs349042	0.96[CEU][hapmap];0.82[CHB][hapmap];0.87[AMR][1000 genomes];0.94[EUR][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:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44332800-44357200	ZNF genes & repeats	Liver	Liver
2	chr19:44333600-44357400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr19:44334000-44353200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr19:44335200-44357200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr19:44335200-44368200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr19:44335400-44357200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
7	chr19:44335400-44366600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
8	chr19:44336600-44357600	ZNF genes & repeats	Adipose Nuclei	Adipose
9	chr19:44336800-44353000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
10	chr19:44336800-44356800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
11	chr19:44336800-44357200	ZNF genes & repeats	Fetal Lung	lung
12	chr19:44338000-44352800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr19:44339000-44352800	ZNF genes & repeats	Rectal Smooth Muscle	rectum
14	chr19:44339000-44355400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
15	chr19:44339200-44355400	ZNF genes & repeats	Primary B cells from cord blood	blood
16	chr19:44339200-44355400	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
17	chr19:44339200-44357200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr19:44339400-44350200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
19	chr19:44339400-44352600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
20	chr19:44339400-44352600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
21	chr19:44339400-44355400	ZNF genes & repeats	Primary T cells from cord blood	blood
22	chr19:44339400-44355600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr19:44339600-44355400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
24	chr19:44340800-44353000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr19:44341000-44352600	ZNF genes & repeats	Fetal Intestine Large	intestine
26	chr19:44341000-44354200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
27	chr19:44341000-44355400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
28	chr19:44341000-44357200	ZNF genes & repeats	Brain Anterior Caudate	brain
29	chr19:44341200-44354800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
30	chr19:44341200-44357200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr19:44342000-44353000	ZNF genes & repeats	NH-A	brain
32	chr19:44342200-44355400	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
33	chr19:44343000-44352800	ZNF genes & repeats	Fetal Kidney	kidney
34	chr19:44344800-44350600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr19:44344800-44350600	Weak transcription	Hela-S3	cervix
36	chr19:44345800-44355400	ZNF genes & repeats	Stomach Smooth Muscle	stomach
37	chr19:44347000-44351400	Weak transcription	Stomach Mucosa	stomach
38	chr19:44347000-44351800	Weak transcription	Fetal Thymus	thymus
39	chr19:44347600-44350400	Weak transcription	Left Ventricle	heart
40	chr19:44347600-44350600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr19:44347600-44350600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr19:44347600-44350600	Weak transcription	Aorta	Aorta
43	chr19:44347600-44350600	Weak transcription	Esophagus	oesophagus
44	chr19:44347600-44350600	Weak transcription	Lung	lung
45	chr19:44347600-44350600	Weak transcription	Pancreas	Pancrea
46	chr19:44347600-44350600	Weak transcription	Small Intestine	intestine
47	chr19:44347600-44354600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr19:44347600-44354600	Weak transcription	Fetal Stomach	stomach
49	chr19:44348000-44350600	Strong transcription	Osteobl	bone
50	chr19:44348200-44350600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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