Variant report

Variant	rs72819465
Chromosome Location	chr2:95834560-95834561
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CUX1	chr2:95834556-95834690	K562	blood:	n/a	n/a
2	POLR2A	chr2:95834423-95834601	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:95784181..95785707-chr2:95832931..95835537,2	K562	blood:
2	chr2:95826283..95829129-chr2:95833738..95835738,2	K562	blood:
3	chr2:95833606..95836006-chr2:95838659..95840200,2	K562	blood:
4	chr2:95832348..95835657-chr2:95871526..95874855,4	MCF-7	breast:
5	chr2:95833553..95835805-chr2:95846574..95849112,2	K562	blood:

No data

Variant related genes	Relation type
ZNF514	TF binding region
ENSG00000233757	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs72819427	0.83[EUR][1000 genomes]
rs72819453	0.91[EUR][1000 genomes]
rs72819463	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72819466	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72819479	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72819493	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72819495	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72821406	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005016	chr2:95327875-95914467	Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv817258	chr2:95618109-96340788	Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv482276	chr2:95711972-95888406	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv1008945	chr2:95745367-96062107	Weak transcription Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv817299	chr2:95799814-96159275	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:95832200-95837600	Weak transcription	Aorta	Aorta
2	chr2:95832200-95841000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:95832200-95843200	Weak transcription	Esophagus	oesophagus
4	chr2:95832200-95843200	Weak transcription	Left Ventricle	heart
5	chr2:95832200-95845200	Weak transcription	Placenta	Placenta
6	chr2:95832400-95834600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:95832400-95841600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:95832400-95841800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr2:95832400-95841800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr2:95832400-95841800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr2:95832400-95841800	Weak transcription	Right Ventricle	heart
12	chr2:95832400-95842000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr2:95832400-95842200	Weak transcription	Osteobl	bone
14	chr2:95832400-95843000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr2:95832400-95843400	Weak transcription	Psoas Muscle	Psoas
16	chr2:95832400-95845200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:95832400-95845200	Weak transcription	Colonic Mucosa	Colon
18	chr2:95832400-95845400	Weak transcription	Pancreas	Pancrea
19	chr2:95832400-95845600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:95832400-95846400	Weak transcription	Fetal Brain Male	brain
21	chr2:95832400-95846800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr2:95832600-95835600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:95832600-95835800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr2:95832600-95837600	Weak transcription	NHLF	lung
25	chr2:95832600-95841400	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr2:95832600-95841400	Weak transcription	Fetal Lung	lung
27	chr2:95832600-95841800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr2:95832600-95841800	Weak transcription	Adipose Nuclei	Adipose
29	chr2:95832600-95841800	Weak transcription	Fetal Intestine Large	intestine
30	chr2:95832600-95841800	Weak transcription	Fetal Stomach	stomach
31	chr2:95832600-95842000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:95832600-95842000	Weak transcription	Brain Hippocampus Middle	brain
33	chr2:95832600-95842200	Weak transcription	Primary B cells from cord blood	blood
34	chr2:95832600-95842200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr2:95832600-95843200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr2:95832600-95843200	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr2:95832600-95843400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr2:95832600-95843400	Weak transcription	Fetal Intestine Small	intestine
39	chr2:95832600-95843600	Weak transcription	Fetal Brain Female	brain
40	chr2:95832600-95843800	Weak transcription	Primary B cells from peripheral blood	blood
41	chr2:95832600-95844000	Weak transcription	Small Intestine	intestine
42	chr2:95832600-95844400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr2:95832600-95845000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:95832600-95845200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr2:95832600-95845200	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr2:95832600-95845200	Weak transcription	HSMM	muscle
47	chr2:95832600-95845400	Weak transcription	Brain Germinal Matrix	brain
48	chr2:95832600-95845600	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr2:95832600-95845600	Weak transcription	Fetal Thymus	thymus
50	chr2:95832600-95846600	Weak transcription	NHDF-Ad	bronchial

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