Variant report

Variant	rs1233443
Chromosome Location	chr19:44765929-44765930
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:44764453..44767160-chr19:44768719..44770239,2	K562	blood:
2	chr19:44765918..44767537-chr19:44979922..44981810,2	MCF-7	breast:
3	chr19:44764212..44765954-chr19:44776988..44779803,2	MCF-7	breast:

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs1233430	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1233431	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1233432	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1233433	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1233434	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1233435	0.88[AMR][1000 genomes]
rs1233436	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1233438	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1233442	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1233445	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1233446	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1233449	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1233450	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1233451	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1233457	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1233458	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1233460	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1233461	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1233462	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1233469	0.83[AMR][1000 genomes]
rs1233471	0.82[AMR][1000 genomes]
rs1233472	0.83[AMR][1000 genomes]
rs1233473	0.82[AMR][1000 genomes]
rs1233474	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1234839	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1234840	0.82[AMR][1000 genomes]
rs1235163	0.82[AMR][1000 genomes]
rs1237178	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1238786	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1347349	0.80[EUR][1000 genomes]
rs1369100	0.81[EUR][1000 genomes]
rs2164112	0.80[EUR][1000 genomes]
rs2164113	0.81[EUR][1000 genomes]
rs2168990	0.81[EUR][1000 genomes]
rs2196185	0.80[EUR][1000 genomes]
rs2249402	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2446491	0.81[EUR][1000 genomes]
rs2571100	0.81[EUR][1000 genomes]
rs2571105	0.80[EUR][1000 genomes]
rs2571106	0.89[EUR][1000 genomes]
rs2609881	0.91[EUR][1000 genomes]
rs2609883	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2609886	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2609887	0.81[EUR][1000 genomes]
rs2609890	0.80[EUR][1000 genomes]
rs2609892	0.91[EUR][1000 genomes]
rs2609898	0.81[EUR][1000 genomes]
rs2609905	0.91[EUR][1000 genomes]
rs2609906	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2609909	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2722707	0.81[EUR][1000 genomes]
rs2722708	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2722711	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2722715	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2722716	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2722717	0.81[EUR][1000 genomes]
rs59555311	0.81[EUR][1000 genomes]
rs6509153	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs874187	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs898175	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs898176	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs898177	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs898179	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs984116	0.80[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	nsv521923	chr19:44764064-44769974	ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44729800-44768600	ZNF genes & repeats	Adipose Nuclei	Adipose
2	chr19:44730000-44775600	ZNF genes & repeats	Liver	Liver
3	chr19:44764600-44766600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr19:44764600-44770000	Weak transcription	Fetal Kidney	kidney
5	chr19:44764600-44771000	Weak transcription	Psoas Muscle	Psoas
6	chr19:44764600-44778200	Weak transcription	HSMMtube	muscle
7	chr19:44764800-44769800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr19:44764800-44770000	Weak transcription	Primary B cells from cord blood	blood
9	chr19:44764800-44770000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr19:44764800-44771200	Weak transcription	Thymus	Thymus
11	chr19:44764800-44777600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr19:44764800-44777600	Weak transcription	Placenta	Placenta
13	chr19:44764800-44782000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr19:44765000-44769200	Weak transcription	Brain Germinal Matrix	brain
15	chr19:44765000-44770000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr19:44765000-44770000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr19:44765000-44770200	Weak transcription	Fetal Intestine Small	intestine
18	chr19:44765000-44770200	Weak transcription	Fetal Stomach	stomach
19	chr19:44765000-44770200	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr19:44765000-44770400	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr19:44765000-44770400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr19:44765000-44770800	Weak transcription	Fetal Muscle Leg	muscle
23	chr19:44765000-44771000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr19:44765000-44771200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr19:44765000-44772400	Weak transcription	A549	lung
26	chr19:44765000-44772600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr19:44765000-44773400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr19:44765000-44774800	Weak transcription	Fetal Lung	lung
29	chr19:44765000-44774800	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr19:44765000-44775400	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr19:44765000-44777400	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr19:44765000-44777400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr19:44765000-44777400	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr19:44765000-44777400	Weak transcription	Fetal Heart	heart
35	chr19:44765000-44777600	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr19:44765000-44777600	Weak transcription	Right Ventricle	heart
37	chr19:44765000-44778000	Weak transcription	Fetal Brain Male	brain
38	chr19:44765200-44766400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr19:44765200-44767200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
40	chr19:44765200-44769800	Weak transcription	Primary T cells from cord blood	blood
41	chr19:44765200-44770000	Weak transcription	Fetal Brain Female	brain
42	chr19:44765200-44777000	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr19:44765200-44777600	Weak transcription	Dnd41	blood
44	chr19:44765400-44766000	Weak transcription	Stomach Smooth Muscle	stomach
45	chr19:44765400-44766200	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr19:44765400-44766800	Weak transcription	Duodenum Mucosa	Duodenum
47	chr19:44765400-44769600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr19:44765400-44770000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr19:44765400-44770200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr19:44765400-44770200	Weak transcription	Left Ventricle	heart

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