Variant report

Variant	rs10425945
Chromosome Location	chr19:44672177-44672178
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:44671722-44672782	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44668674..44671221-chr19:44672001..44674509,3	K562	blood:
2	chr19:44668365..44671221-chr19:44671362..44673501,2	K562	blood:

Variant related genes	Relation type
ZNF226	TF binding region
ENSG00000167380	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10405450	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10410086	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10423306	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11667521	0.85[CEU][hapmap]
rs12459795	0.89[EUR][1000 genomes]
rs12460039	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12462557	0.85[CEU][hapmap]
rs12462723	0.85[CEU][hapmap]
rs12608984	0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs12972784	0.85[EUR][1000 genomes]
rs12975546	0.86[CEU][hapmap]
rs12980565	0.86[CEU][hapmap]
rs2051059	0.83[CEU][hapmap];0.82[EUR][1000 genomes]
rs2085516	0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs2100643	0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs2125579	0.85[CEU][hapmap]
rs2168989	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2232801	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2279072	0.96[CEU][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2279073	0.85[CEU][hapmap]
rs2293587	0.91[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.92[ASN][1000 genomes]
rs2356751	0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.92[ASN][1000 genomes]
rs3817595	0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.92[ASN][1000 genomes]
rs4802218	0.85[CEU][hapmap]
rs56357907	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs58778698	0.92[ASN][1000 genomes]
rs60668498	0.86[ASN][1000 genomes]
rs61412562	0.89[ASN][1000 genomes]
rs61589395	0.89[ASN][1000 genomes]
rs62117770	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6509146	0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs7248114	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7249209	0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs7251682	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7253196	0.83[EUR][1000 genomes]
rs7253533	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7259916	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7260304	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8101032	0.86[CEU][hapmap]
rs8102037	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8105073	0.88[CEU][hapmap]
rs8108934	0.87[EUR][1000 genomes]
rs9304640	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9646643	0.85[CEU][hapmap]

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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44670000-44672400	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr19:44670000-44677000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr19:44670200-44672200	ZNF genes & repeats	Lung	lung
4	chr19:44670200-44672200	Strong transcription	K562	blood
5	chr19:44670200-44675600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr19:44670200-44676000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr19:44670400-44672200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
8	chr19:44670400-44672400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
9	chr19:44670400-44672800	Weak transcription	HUVEC	blood vessel
10	chr19:44670400-44674600	Strong transcription	Skeletal Muscle Female	skeletal muscle
11	chr19:44670400-44675600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr19:44670400-44675800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr19:44670400-44675800	Strong transcription	Rectal Smooth Muscle	rectum
14	chr19:44670400-44680200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr19:44670600-44672200	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr19:44670600-44672200	ZNF genes & repeats	Fetal Intestine Small	intestine
17	chr19:44670600-44672400	Genic enhancers	Fetal Brain Male	brain
18	chr19:44670600-44673200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr19:44670600-44673200	Strong transcription	Colonic Mucosa	Colon
20	chr19:44670600-44673800	Strong transcription	Fetal Stomach	stomach
21	chr19:44670600-44673800	Strong transcription	HSMM	muscle
22	chr19:44670600-44674600	Strong transcription	NHEK	skin
23	chr19:44670600-44675600	Weak transcription	HepG2	liver
24	chr19:44670600-44678800	Strong transcription	Fetal Muscle Trunk	muscle
25	chr19:44670600-44679000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr19:44670600-44681600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
27	chr19:44670600-44688200	ZNF genes & repeats	Liver	Liver
28	chr19:44670800-44672200	Strong transcription	H1 Cell Line	embryonic stem cell
29	chr19:44670800-44672200	Strong transcription	Pancreas	Pancrea
30	chr19:44670800-44672200	ZNF genes & repeats	Psoas Muscle	Psoas
31	chr19:44670800-44672400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr19:44670800-44672400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
33	chr19:44670800-44673000	ZNF genes & repeats	Colon Smooth Muscle	Colon
34	chr19:44670800-44673000	Strong transcription	Skeletal Muscle Male	skeletal muscle
35	chr19:44670800-44673400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr19:44670800-44673400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr19:44670800-44673800	Strong transcription	Left Ventricle	heart
38	chr19:44670800-44674200	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
39	chr19:44670800-44674200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
40	chr19:44670800-44674200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
41	chr19:44670800-44674400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr19:44670800-44674400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr19:44670800-44674400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
44	chr19:44670800-44674400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr19:44670800-44674400	ZNF genes & repeats	Adipose Nuclei	Adipose
46	chr19:44670800-44674400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
47	chr19:44670800-44674400	ZNF genes & repeats	Fetal Lung	lung
48	chr19:44670800-44674400	ZNF genes & repeats	Stomach Smooth Muscle	stomach
49	chr19:44670800-44674400	ZNF genes & repeats	A549	lung
50	chr19:44670800-44674600	ZNF genes & repeats	GM12878-XiMat	blood

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