Variant report

Variant	rs73044953
Chromosome Location	chr19:38896075-38896076
allele	C/T
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	chr19:38895821-38896396	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:38891109..38897587-chr19:38900077..38906045,7	MCF-7	breast:

Variant related genes	Relation type
FAM98C	TF binding region
ENSG00000171777	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11083454	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11538289	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2302228	1.00[EUR][1000 genomes]
rs3745955	0.80[EUR][1000 genomes]
rs3745963	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3760884	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57753437	0.93[EUR][1000 genomes]
rs59491640	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60780508	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6508791	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6508792	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6508793	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7245668	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7246085	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7246191	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7246213	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7248540	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7248780	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7257976	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73043029	0.81[EUR][1000 genomes]
rs73043030	0.93[EUR][1000 genomes]
rs73043033	0.93[EUR][1000 genomes]
rs73043098	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73044905	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044908	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044911	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044915	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044917	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044919	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044923	0.80[EUR][1000 genomes]
rs73044926	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044928	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044930	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044932	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044937	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044942	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044944	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044946	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044947	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044948	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8108440	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8109713	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8112499	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063471	chr19:38734744-39148392	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
2	nsv833822	chr19:38760748-38945105	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv911658	chr19:38785318-39002140	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
4	nsv470140	chr19:38840139-39119494	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	nsv911659	chr19:38852357-39002140	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
6	nsv911660	chr19:38852357-39060238	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
7	nsv833823	chr19:38855550-39035800	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
8	nsv1064275	chr19:38859865-38913251	Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
9	esv1803709	chr19:38874828-38900078	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38894400-38898600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr19:38894400-38898800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr19:38894400-38903400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr19:38894400-38908000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr19:38894600-38897200	Weak transcription	Aorta	Aorta
6	chr19:38894600-38897200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr19:38894600-38897400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr19:38894600-38897400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr19:38894600-38898000	Weak transcription	Psoas Muscle	Psoas
10	chr19:38894600-38898600	Weak transcription	Fetal Kidney	kidney
11	chr19:38894600-38899200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr19:38894600-38900400	Weak transcription	A549	lung
13	chr19:38894600-38900400	Weak transcription	NHDF-Ad	bronchial
14	chr19:38894600-38900400	Weak transcription	NHLF	lung
15	chr19:38894600-38900600	Weak transcription	NH-A	brain
16	chr19:38894600-38902000	Weak transcription	HSMM	muscle
17	chr19:38894600-38902000	Weak transcription	NHEK	skin
18	chr19:38894600-38907800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr19:38894600-38908000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr19:38894600-38908400	Weak transcription	Left Ventricle	heart
21	chr19:38894600-38908400	Weak transcription	HUVEC	blood vessel
22	chr19:38894800-38896200	Weak transcription	Placenta	Placenta
23	chr19:38894800-38897400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr19:38894800-38900000	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr19:38894800-38900600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr19:38894800-38902400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr19:38894800-38908000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr19:38894800-38908400	Weak transcription	Small Intestine	intestine
29	chr19:38895000-38897200	Weak transcription	K562	blood
30	chr19:38895000-38897400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr19:38895000-38897400	Weak transcription	Fetal Brain Female	brain
32	chr19:38895000-38901000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr19:38895000-38901000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr19:38895000-38903400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr19:38895000-38905800	Weak transcription	Brain Germinal Matrix	brain
36	chr19:38895000-38907800	Weak transcription	GM12878-XiMat	blood
37	chr19:38895000-38908000	Weak transcription	Primary hematopoietic stem cells	blood
38	chr19:38895000-38908400	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr19:38895200-38896400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr19:38895200-38897400	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr19:38895200-38898200	Weak transcription	Stomach Mucosa	stomach
42	chr19:38895200-38900000	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr19:38895200-38904200	Weak transcription	Rectal Smooth Muscle	rectum
44	chr19:38895200-38906200	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr19:38895200-38907800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr19:38895200-38908200	Weak transcription	Fetal Thymus	thymus
47	chr19:38895400-38896200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
48	chr19:38895400-38896400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr19:38895400-38897400	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr19:38895400-38897400	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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