Variant report

Variant	rs8110949
Chromosome Location	chr19:44587148-44587149
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	chr19:44586751..44589410-chr19:44592560..44594280,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11667318	1.00[EUR][1000 genomes]
rs11672570	1.00[EUR][1000 genomes]
rs12327743	1.00[EUR][1000 genomes]
rs16976952	1.00[EUR][1000 genomes]
rs16976959	1.00[EUR][1000 genomes]
rs16978634	1.00[EUR][1000 genomes]
rs35026751	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs378598	1.00[EUR][1000 genomes]
rs424147	1.00[EUR][1000 genomes]
rs430107	1.00[EUR][1000 genomes]
rs4599026	1.00[EUR][1000 genomes]
rs57574350	1.00[EUR][1000 genomes]
rs58379185	1.00[EUR][1000 genomes]
rs59955744	1.00[EUR][1000 genomes]
rs61254478	1.00[EUR][1000 genomes]
rs7260087	1.00[EUR][1000 genomes]
rs73567700	1.00[EUR][1000 genomes]
rs73569807	1.00[EUR][1000 genomes]
rs73569826	1.00[EUR][1000 genomes]
rs73569841	1.00[EUR][1000 genomes]
rs8112679	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833840	chr19:44520620-44715760	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv978827	chr19:44584843-44590122	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44577000-44598000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:44577200-44588000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr19:44577200-44588200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr19:44577200-44590000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr19:44577200-44598000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr19:44577400-44589200	Weak transcription	NH-A	brain
7	chr19:44577600-44587800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr19:44577600-44588400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr19:44577600-44589800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr19:44577600-44597800	Weak transcription	HMEC	breast
11	chr19:44580600-44591400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr19:44580600-44592400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr19:44580600-44592600	Strong transcription	Duodenum Smooth Muscle	Duodenum
14	chr19:44580800-44593200	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr19:44581000-44591400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr19:44581000-44591400	Strong transcription	Fetal Muscle Trunk	muscle
17	chr19:44581000-44591800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr19:44581200-44591400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr19:44581200-44591600	Strong transcription	Dnd41	blood
20	chr19:44581200-44592400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr19:44581200-44593000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr19:44581400-44591000	Strong transcription	Fetal Intestine Large	intestine
23	chr19:44581600-44590000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr19:44581800-44592000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr19:44581800-44592800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr19:44582000-44589400	Strong transcription	Fetal Intestine Small	intestine
27	chr19:44582000-44591400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr19:44582000-44592600	Strong transcription	Fetal Stomach	stomach
29	chr19:44582200-44587800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr19:44582200-44592800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr19:44582400-44588600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr19:44582800-44591400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr19:44583000-44591600	Strong transcription	Primary T cells from cord blood	blood
34	chr19:44583200-44593000	Strong transcription	Fetal Brain Female	brain
35	chr19:44583400-44591800	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr19:44583600-44593200	Strong transcription	Skeletal Muscle Male	skeletal muscle
37	chr19:44583800-44591600	Strong transcription	Stomach Smooth Muscle	stomach
38	chr19:44584000-44591400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr19:44584000-44592800	ZNF genes & repeats	Liver	Liver
40	chr19:44584000-44593400	Strong transcription	Adipose Nuclei	Adipose
41	chr19:44584200-44587400	Strong transcription	Aorta	Aorta
42	chr19:44584200-44588000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr19:44584200-44588800	Strong transcription	NHLF	lung
44	chr19:44584200-44590800	Strong transcription	Colon Smooth Muscle	Colon
45	chr19:44584200-44591200	Strong transcription	Duodenum Mucosa	Duodenum
46	chr19:44584200-44591200	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr19:44584200-44591200	Strong transcription	Spleen	Spleen
48	chr19:44584200-44591400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr19:44584200-44591400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr19:44584200-44591400	Strong transcription	Brain Germinal Matrix	brain

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