Variant report

Variant	rs1483187
Chromosome Location	chr3:53199997-53199998
allele	A/T
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:53188104..53190681-chr3:53198828..53201211,3	K562	blood:
2	chr3:53199183..53202732-chr3:53204136..53207026,5	K562	blood:
3	chr3:53194953..53199207-chr3:53199454..53201631,4	K562	blood:
4	chr3:53197947..53200890-chr3:53261082..53263674,2	K562	blood:
5	chr3:53199818..53201927-chr3:53878071..53880681,2	MCF-7	breast:
6	chr3:53195153..53196714-chr3:53199399..53202103,2	K562	blood:
7	chr3:53199690..53202730-chr3:53210054..53211867,3	MCF-7	breast:
8	chr3:53188104..53190681-chr3:53199532..53201211,2	K562	blood:
9	chr3:53150999..53152695-chr3:53199764..53202403,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000056736	Chromatin interaction
ENSG00000016391	Chromatin interaction
ENSG00000163931	Chromatin interaction
ENSG00000163932	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11924565	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1483185	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1483186	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2242305	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3773724	0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3773726	0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3773727	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3773731	0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3773733	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4687571	0.80[ASN][1000 genomes]
rs57046386	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62254282	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6775022	0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6797662	0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6807359	0.83[EUR][1000 genomes]
rs72537447	0.95[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7630325	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834699	chr3:53151876-53325808	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv517233	chr3:53175557-53321002	Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53196400-53202000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:53196400-53210200	Weak transcription	Psoas Muscle	Psoas
3	chr3:53196400-53212400	Weak transcription	Aorta	Aorta
4	chr3:53196600-53200000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr3:53196600-53204000	Weak transcription	Small Intestine	intestine
6	chr3:53197000-53200400	Weak transcription	Liver	Liver
7	chr3:53197000-53200400	Weak transcription	HSMMtube	muscle
8	chr3:53197000-53202000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr3:53197200-53200200	Weak transcription	HUVEC	blood vessel
10	chr3:53197200-53200400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr3:53197200-53200400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:53197200-53200400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr3:53197200-53200400	Weak transcription	Brain Angular Gyrus	brain
14	chr3:53197200-53200400	Weak transcription	HSMM	muscle
15	chr3:53197200-53200600	Weak transcription	Fetal Kidney	kidney
16	chr3:53197200-53200800	Weak transcription	Colon Smooth Muscle	Colon
17	chr3:53197200-53201800	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr3:53197200-53205400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr3:53197200-53213400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr3:53197400-53200000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr3:53197400-53200200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr3:53197400-53200400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr3:53197400-53200400	Weak transcription	Ovary	ovary
24	chr3:53197400-53200600	Weak transcription	Brain Cingulate Gyrus	brain
25	chr3:53197400-53200800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr3:53197400-53200800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr3:53197400-53202000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr3:53197400-53202200	Weak transcription	Brain Substantia Nigra	brain
29	chr3:53197400-53203000	Genic enhancers	Primary B cells from peripheral blood	blood
30	chr3:53197400-53207000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr3:53197600-53200200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr3:53197600-53200400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr3:53197600-53200400	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr3:53197600-53200400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr3:53197600-53201000	Weak transcription	HepG2	liver
36	chr3:53197600-53201800	Enhancers	Stomach Mucosa	stomach
37	chr3:53197600-53202000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr3:53197600-53204200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr3:53197600-53206600	Genic enhancers	Fetal Intestine Small	intestine
40	chr3:53197600-53206800	Weak transcription	Primary T cells from cord blood	blood
41	chr3:53197600-53227600	Weak transcription	Hela-S3	cervix
42	chr3:53197800-53200200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr3:53197800-53200400	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr3:53197800-53200400	Genic enhancers	Primary monocytes fromperipheralblood	blood
45	chr3:53197800-53200400	Weak transcription	K562	blood
46	chr3:53197800-53200400	Weak transcription	NHDF-Ad	bronchial
47	chr3:53197800-53200400	Weak transcription	NHLF	lung
48	chr3:53197800-53200800	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr3:53197800-53201000	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr3:53197800-53202800	Enhancers	Brain Anterior Caudate	brain

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