Variant report

Variant	rs73831412
Chromosome Location	chr3:46976013-46976014
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:46970409..46973424-chr3:46974292..46976174,3	K562	blood:
2	chr3:46967009..46980239-chr3:47015804..47024437,23	MCF-7	breast:
3	chr3:46974607..46976308-chr3:47009636..47011674,2	K562	blood:
4	chr3:46975644..46977508-chr3:47038452..47040651,2	K562	blood:
5	chr3:46975584..46977390-chr3:46978479..46982012,3	MCF-7	breast:
6	chr3:46964203..46969117-chr3:46974530..46977361,4	K562	blood:
7	chr3:46975931..46978927-chr3:47032747..47034555,2	K562	blood:
8	chr3:46974856..46983636-chr3:47025231..47032249,9	K562	blood:
9	chr3:46972031..46974044-chr3:46975427..46977474,2	K562	blood:
10	chr3:46971793..46974784-chr3:46975168..46977943,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000160799	Chromatin interaction
ENSG00000160796	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs55633581	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55646108	1.00[AMR][1000 genomes]
rs55727789	1.00[AMR][1000 genomes]
rs55730344	1.00[AMR][1000 genomes]
rs55832326	1.00[AMR][1000 genomes]
rs56329054	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57341796	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58040348	1.00[AMR][1000 genomes]
rs58529346	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58918862	1.00[AMR][1000 genomes]
rs59614145	1.00[AMR][1000 genomes]
rs59846120	1.00[AMR][1000 genomes]
rs60017851	1.00[AMR][1000 genomes]
rs60100816	1.00[AMR][1000 genomes]
rs73831407	0.83[AFR][1000 genomes]
rs73831409	1.00[AMR][1000 genomes]
rs73831411	1.00[AMR][1000 genomes]
rs73831414	1.00[AMR][1000 genomes]
rs73831415	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831421	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831424	1.00[AMR][1000 genomes]
rs73831425	1.00[AMR][1000 genomes]
rs73831428	1.00[AMR][1000 genomes]
rs73831430	1.00[AMR][1000 genomes]
rs73831431	1.00[AMR][1000 genomes]
rs73831432	1.00[AMR][1000 genomes]
rs73831444	1.00[AMR][1000 genomes]
rs73831445	1.00[AMR][1000 genomes]
rs73831446	1.00[AMR][1000 genomes]
rs73831448	1.00[AMR][1000 genomes]
rs73831449	1.00[AMR][1000 genomes]
rs73831450	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831451	1.00[AMR][1000 genomes]
rs73831453	1.00[AMR][1000 genomes]
rs73831454	1.00[AMR][1000 genomes]
rs73831455	1.00[AMR][1000 genomes]
rs73831457	1.00[AMR][1000 genomes]
rs73831458	1.00[AMR][1000 genomes]
rs73831459	1.00[AMR][1000 genomes]
rs73831466	1.00[AMR][1000 genomes]
rs73831467	1.00[AMR][1000 genomes]
rs73831468	1.00[AMR][1000 genomes]
rs73831469	1.00[AMR][1000 genomes]
rs73831471	1.00[AMR][1000 genomes]
rs73831472	1.00[AMR][1000 genomes]
rs73831474	1.00[AMR][1000 genomes]
rs73831477	1.00[AMR][1000 genomes]
rs73831479	1.00[AMR][1000 genomes]
rs73831480	1.00[AMR][1000 genomes]
rs73831481	1.00[AMR][1000 genomes]
rs73831483	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007449	chr3:46652343-46986578	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv536554	chr3:46652343-46986578	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv536558	chr3:46706571-47024756	Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv915922	chr3:46768104-47009805	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv876755	chr3:46895109-47061183	Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv460526	chr3:46935527-47001350	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv3800	chr3:46961648-47007241	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1012682	chr3:46973552-47016357	Genic enhancers Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46967400-46976400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr3:46967400-46984400	Genic enhancers	Fetal Intestine Small	intestine
3	chr3:46967800-46976400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr3:46968000-46978800	Enhancers	Stomach Mucosa	stomach
5	chr3:46968400-46976600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr3:46968400-46977600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr3:46969200-46976600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr3:46969200-46976600	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr3:46969400-46978400	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr3:46969600-46977400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr3:46970200-46976800	Enhancers	Brain Hippocampus Middle	brain
12	chr3:46970200-46978600	Enhancers	Right Ventricle	heart
13	chr3:46970400-46976400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr3:46970400-46977600	Enhancers	Liver	Liver
15	chr3:46970400-46977800	Enhancers	Pancreas	Pancrea
16	chr3:46970600-46977600	Enhancers	Brain Angular Gyrus	brain
17	chr3:46970800-46976200	Enhancers	Spleen	Spleen
18	chr3:46970800-46977400	Enhancers	Placenta	Placenta
19	chr3:46970800-46977600	Enhancers	Left Ventricle	heart
20	chr3:46970800-46977600	Enhancers	Lung	lung
21	chr3:46970800-46977800	Enhancers	NHDF-Ad	bronchial
22	chr3:46970800-46979400	Enhancers	HUVEC	blood vessel
23	chr3:46970800-46984200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr3:46971200-46976200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr3:46971200-46976800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:46971200-46988400	Strong transcription	Dnd41	blood
27	chr3:46971400-46977600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr3:46971600-46976800	Enhancers	Fetal Lung	lung
29	chr3:46971600-46977400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr3:46971600-46977800	Enhancers	Esophagus	oesophagus
31	chr3:46971600-46978600	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr3:46971800-46976200	Enhancers	Fetal Muscle Trunk	muscle
33	chr3:46971800-46976200	Enhancers	Gastric	stomach
34	chr3:46971800-46976800	Genic enhancers	Fetal Thymus	thymus
35	chr3:46971800-46977600	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr3:46971800-46977600	Enhancers	Ovary	ovary
37	chr3:46971800-46978000	Genic enhancers	Fetal Stomach	stomach
38	chr3:46971800-46978000	Enhancers	Small Intestine	intestine
39	chr3:46971800-46980000	Enhancers	Psoas Muscle	Psoas
40	chr3:46971800-46982800	Enhancers	Right Atrium	heart
41	chr3:46972000-46977600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr3:46972200-46977200	Genic enhancers	Primary T cells fromperipheralblood	blood
43	chr3:46972400-46978800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr3:46972400-46981200	Genic enhancers	Fetal Muscle Leg	muscle
45	chr3:46972600-46976200	Enhancers	Duodenum Mucosa	Duodenum
46	chr3:46972800-46976200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
47	chr3:46973200-46976400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr3:46973400-46976800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr3:46973400-46977600	Enhancers	Osteobl	bone
50	chr3:46973600-46976200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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