Variant report

Variant	rs73558222
Chromosome Location	chr19:44568451-44568452
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	chr19:44555194..44558288-chr19:44566078..44569584,3	MCF-7	breast:
2	chr19:44562856..44565736-chr19:44566187..44569653,3	K562	blood:

Variant related genes	Relation type
ENSG00000178386	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10164312	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10164320	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10401773	1.00[EUR][1000 genomes]
rs10404050	1.00[EUR][1000 genomes]
rs10404791	1.00[EUR][1000 genomes]
rs10404999	1.00[EUR][1000 genomes]
rs10405366	1.00[EUR][1000 genomes]
rs10409400	1.00[EUR][1000 genomes]
rs10409475	1.00[EUR][1000 genomes]
rs10415885	1.00[EUR][1000 genomes]
rs10416649	1.00[EUR][1000 genomes]
rs10420015	1.00[EUR][1000 genomes]
rs11878317	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11878320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11879265	1.00[EUR][1000 genomes]
rs11879733	1.00[EUR][1000 genomes]
rs11880330	1.00[EUR][1000 genomes]
rs11880794	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11880826	1.00[EUR][1000 genomes]
rs11881355	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11882281	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11883048	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11883052	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11883398	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12983129	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13343401	1.00[EUR][1000 genomes]
rs13345060	1.00[EUR][1000 genomes]
rs13345516	1.00[EUR][1000 genomes]
rs16976891	1.00[EUR][1000 genomes]
rs16976894	1.00[EUR][1000 genomes]
rs28591400	1.00[EUR][1000 genomes]
rs34863330	1.00[EUR][1000 genomes]
rs55852649	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57614626	1.00[EUR][1000 genomes]
rs57796743	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57956437	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58056761	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58271953	1.00[EUR][1000 genomes]
rs58935748	1.00[EUR][1000 genomes]
rs59205113	1.00[EUR][1000 genomes]
rs59926292	1.00[EUR][1000 genomes]
rs60064087	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60833312	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61233555	1.00[EUR][1000 genomes]
rs7253031	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7254182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7256304	1.00[EUR][1000 genomes]
rs73554168	1.00[EUR][1000 genomes]
rs73556256	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73556274	1.00[EUR][1000 genomes]
rs73556277	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73556279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73556299	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73558203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73558209	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73558211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73558212	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73558215	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73558217	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73558221	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73558227	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73558248	1.00[EUR][1000 genomes]
rs73558256	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73558264	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73558286	1.00[EUR][1000 genomes]
rs73558298	1.00[EUR][1000 genomes]
rs73558301	1.00[EUR][1000 genomes]
rs73562181	1.00[EUR][1000 genomes]
rs73562184	1.00[EUR][1000 genomes]
rs73562187	1.00[EUR][1000 genomes]
rs73562192	1.00[EUR][1000 genomes]
rs73562196	1.00[EUR][1000 genomes]
rs73564015	1.00[EUR][1000 genomes]
rs73932846	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8100906	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8100990	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8101607	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8102859	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44557000-44568800	Weak transcription	HMEC	breast
2	chr19:44557000-44570200	Weak transcription	HUVEC	blood vessel
3	chr19:44557000-44570200	Weak transcription	NHDF-Ad	bronchial
4	chr19:44557000-44575600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr19:44557400-44570000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr19:44557400-44570200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr19:44558200-44571800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr19:44558200-44573200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr19:44558200-44575600	ZNF genes & repeats	Liver	Liver
10	chr19:44558800-44572800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
11	chr19:44559200-44569000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr19:44559200-44569000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr19:44559200-44569400	Strong transcription	Fetal Stomach	stomach
14	chr19:44559400-44569400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr19:44559400-44570000	Weak transcription	Stomach Mucosa	stomach
16	chr19:44559800-44568600	Strong transcription	HSMMtube	muscle
17	chr19:44560000-44568800	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr19:44560800-44569400	Strong transcription	Fetal Intestine Large	intestine
19	chr19:44560800-44570000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr19:44561000-44568800	Strong transcription	Fetal Brain Female	brain
21	chr19:44561000-44569200	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr19:44561200-44569600	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr19:44561400-44568800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr19:44561400-44569000	Strong transcription	Fetal Muscle Trunk	muscle
25	chr19:44561400-44570000	Strong transcription	Brain Hippocampus Middle	brain
26	chr19:44561600-44568800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr19:44561600-44569000	Strong transcription	Brain Inferior Temporal Lobe	brain
28	chr19:44561600-44569600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr19:44561800-44568800	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr19:44561800-44568800	Strong transcription	Brain Anterior Caudate	brain
31	chr19:44561800-44569200	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr19:44561800-44569200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr19:44561800-44569200	Strong transcription	Brain Cingulate Gyrus	brain
34	chr19:44561800-44569200	Strong transcription	Placenta	Placenta
35	chr19:44561800-44569600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr19:44561800-44569600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr19:44561800-44569600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr19:44561800-44569600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr19:44561800-44570000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr19:44561800-44570400	Strong transcription	Right Ventricle	heart
41	chr19:44561800-44572000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr19:44561800-44572600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
43	chr19:44562000-44569800	Strong transcription	Brain Germinal Matrix	brain
44	chr19:44562600-44570800	Strong transcription	Placenta Amnion	Placenta Amnion
45	chr19:44563200-44569200	Strong transcription	Fetal Kidney	kidney
46	chr19:44563600-44572200	ZNF genes & repeats	Adipose Nuclei	Adipose
47	chr19:44563800-44570000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr19:44564400-44569000	Strong transcription	Osteobl	bone
49	chr19:44564400-44569200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr19:44564600-44568800	Strong transcription	Primary B cells from cord blood	blood

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