Variant report

Variant	rs8107040
Chromosome Location	chr19:53757622-53757623
allele	C/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	MAZ	chr19:53757573-53758665	IMR90	lung:	n/a	chr19:53758522-53758532
2	POLR2A	chr19:53757453-53758588	H1-hESC	embryonic stem cell:	n/a	n/a
3	REST	chr19:53757414-53758809	H1-neurons	neurons:	n/a	chr19:53758301-53758314
4	GTF2F1	chr19:53757610-53757654	H1-hESC	embryonic stem cell:	n/a	n/a
5	GABPA	chr19:53757548-53758343	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:53756061..53758221-chr19:53835400..53837964,2	K562	blood:
2	chr19:53757171..53759413-chr19:53761510..53763569,2	K562	blood:

Variant related genes	Relation type
VN1R2	TF binding region
ENSG00000213799	Chromatin interaction
ENSG00000196131	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10407257	0.84[AMR][1000 genomes]
rs10412650	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10419020	0.84[AMR][1000 genomes]
rs10419211	0.81[AMR][1000 genomes]
rs10419777	0.81[AMR][1000 genomes]
rs10424137	0.84[AMR][1000 genomes]
rs28434722	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28658052	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28676766	0.84[AMR][1000 genomes]
rs28683678	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56121768	0.84[AMR][1000 genomes]
rs61576844	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6509740	0.85[JPT][hapmap];0.83[AMR][1000 genomes]
rs7245436	0.81[CEU][hapmap]
rs7260595	0.81[CEU][hapmap]
rs8100627	0.85[CEU][hapmap]
rs8107688	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8107870	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065143	chr19:53507142-53853363	Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv544063	chr19:53507142-53853363	ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
3	nsv1058019	chr19:53507142-53904508	ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
4	nsv544064	chr19:53507142-53904508	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	nsv912342	chr19:53581151-54010759	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv1063630	chr19:53591444-54419183	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS 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 miRNA target site	282 gene(s)	inside rSNPs	diseases
7	nsv1055378	chr19:53603268-53951855	Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
8	nsv544065	chr19:53603268-53951855	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
9	esv2830362	chr19:53681132-53933147	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
10	nsv1055236	chr19:53739483-53778339	Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv1059899	chr19:53744560-53768337	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv1064070	chr19:53744560-53769702	ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53750400-53759200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
2	chr19:53752400-53759400	ZNF genes & repeats	Liver	Liver
3	chr19:53753600-53759000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
4	chr19:53757000-53758000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr19:53757000-53758400	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr19:53757000-53758800	Active TSS	Fetal Kidney	kidney
7	chr19:53757000-53759000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr19:53757000-53759000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr19:53757000-53759200	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr19:53757000-53759200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
11	chr19:53757000-53759200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr19:53757000-53759200	Active TSS	Brain Anterior Caudate	brain
13	chr19:53757200-53757800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr19:53757200-53757800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
15	chr19:53757200-53757800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr19:53757200-53757800	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr19:53757200-53757800	Flanking Active TSS	Brain Germinal Matrix	brain
18	chr19:53757200-53757800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr19:53757200-53757800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
20	chr19:53757200-53757800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr19:53757200-53758000	Flanking Active TSS	Primary hematopoietic stem cells	blood
22	chr19:53757200-53758000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr19:53757200-53758000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr19:53757200-53758400	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr19:53757200-53758600	Active TSS	Brain Cingulate Gyrus	brain
26	chr19:53757200-53758600	Active TSS	Fetal Brain Male	brain
27	chr19:53757200-53758800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr19:53757200-53758800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr19:53757200-53758800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr19:53757200-53758800	Active TSS	Rectal Mucosa Donor 31	rectum
31	chr19:53757200-53758800	Active TSS	Right Ventricle	heart
32	chr19:53757200-53758800	ZNF genes & repeats	HMEC	breast
33	chr19:53757200-53758800	Active TSS	HSMMtube	muscle
34	chr19:53757200-53759000	Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr19:53757200-53759000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
36	chr19:53757200-53759000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr19:53757200-53759000	Active TSS	Brain Hippocampus Middle	brain
38	chr19:53757200-53759000	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr19:53757200-53759000	Active TSS	Fetal Muscle Trunk	muscle
40	chr19:53757200-53759000	Active TSS	Right Atrium	heart
41	chr19:53757200-53759000	Active TSS	NHDF-Ad	bronchial
42	chr19:53757200-53759000	Active TSS	NHLF	lung
43	chr19:53757200-53759200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr19:53757200-53759200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr19:53757200-53759400	Active TSS	Fetal Brain Female	brain
46	chr19:53757200-53759400	Active TSS	Stomach Smooth Muscle	stomach
47	chr19:53757400-53757800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr19:53757400-53757800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr19:53757400-53757800	Flanking Active TSS	Psoas Muscle	Psoas
50	chr19:53757400-53757800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum

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