Variant report

Variant	rs1392291
Chromosome Location	chr3:46018277-46018278
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:46017706..46019852-chr3:46035209..46037613,2	K562	blood:
2	chr3:46011530..46014566-chr3:46015264..46018457,3	K562	blood:
3	chr3:45997101..45998721-chr3:46017987..46020675,2	K562	blood:
4	chr3:45970697..45972556-chr3:46017144..46019977,2	K562	blood:
5	chr3:46015505..46018391-chr3:46024106..46026296,2	K562	blood:
6	chr3:46009297..46011383-chr3:46015916..46019063,3	K562	blood:

Variant related genes	Relation type
ENSG00000163820	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11130080	0.90[ASN][1000 genomes]
rs12630101	0.92[ASN][1000 genomes]
rs12635494	0.95[ASN][1000 genomes]
rs12635657	0.91[ASN][1000 genomes]
rs12639598	0.89[ASN][1000 genomes]
rs1532071	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1552489	0.81[ASN][1000 genomes]
rs1552490	0.81[ASN][1000 genomes]
rs1601867	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17078495	0.91[ASN][1000 genomes]
rs1994488	0.81[ASN][1000 genomes]
rs1994489	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1994490	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2054866	0.83[ASN][1000 genomes]
rs2234358	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35465473	0.83[ASN][1000 genomes]
rs35537559	0.91[ASN][1000 genomes]
rs3733097	0.88[ASN][1000 genomes]
rs3733100	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3774634	0.81[ASN][1000 genomes]
rs3774635	0.81[ASN][1000 genomes]
rs3796375	0.93[ASN][1000 genomes]
rs3821884	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4682799	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4682800	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4683156	0.83[ASN][1000 genomes]
rs4683157	0.81[ASN][1000 genomes]
rs59226168	0.91[ASN][1000 genomes]
rs60539039	0.81[ASN][1000 genomes]
rs62242796	0.91[ASN][1000 genomes]
rs67044455	0.91[ASN][1000 genomes]
rs6778896	0.91[ASN][1000 genomes]
rs730983	0.91[ASN][1000 genomes]
rs737452	0.91[ASN][1000 genomes]
rs751552	0.94[ASN][1000 genomes]
rs751553	0.94[ASN][1000 genomes]
rs9311380	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs931704	0.91[ASN][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	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv498008	chr3:45733423-46319401	Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv876736	chr3:45900621-46027410	Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	esv2756987	chr3:46016464-46120400	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	esv2759145	chr3:46016464-46120400	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:45981600-46025000	Strong transcription	Fetal Intestine Large	intestine
2	chr3:45986400-46026600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr3:45986600-46026800	Strong transcription	HUES48 Cell Line	embryonic stem cell
4	chr3:45987200-46027200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:45987400-46026600	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr3:45987800-46026400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr3:45987800-46026800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr3:45987800-46027200	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr3:45988000-46026600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr3:45996200-46025400	Strong transcription	Liver	Liver
11	chr3:46000000-46029600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr3:46002200-46018600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr3:46002600-46025000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr3:46002600-46027200	Weak transcription	A549	lung
15	chr3:46007800-46024200	Weak transcription	Fetal Kidney	kidney
16	chr3:46008600-46026400	Strong transcription	Hela-S3	cervix
17	chr3:46009000-46027800	Weak transcription	Fetal Brain Male	brain
18	chr3:46010200-46021000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr3:46010200-46022600	Weak transcription	Brain Angular Gyrus	brain
20	chr3:46010200-46024200	Strong transcription	Left Ventricle	heart
21	chr3:46010200-46027000	Weak transcription	Fetal Brain Female	brain
22	chr3:46010200-46029600	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr3:46010200-46033000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr3:46010600-46020800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr3:46010800-46022400	Weak transcription	Fetal Heart	heart
26	chr3:46011400-46020800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr3:46012000-46020800	Weak transcription	Ovary	ovary
28	chr3:46013000-46019200	Strong transcription	Adipose Nuclei	Adipose
29	chr3:46013000-46026200	Weak transcription	Brain Germinal Matrix	brain
30	chr3:46013600-46021000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr3:46013600-46023000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr3:46013600-46025000	Strong transcription	Fetal Intestine Small	intestine
33	chr3:46013600-46025400	Strong transcription	Fetal Muscle Trunk	muscle
34	chr3:46013600-46025600	Strong transcription	Fetal Stomach	stomach
35	chr3:46013600-46034000	Genic enhancers	Fetal Thymus	thymus
36	chr3:46014000-46019800	Strong transcription	Pancreas	Pancrea
37	chr3:46014000-46022400	Strong transcription	K562	blood
38	chr3:46014000-46025800	Strong transcription	HepG2	liver
39	chr3:46014000-46026400	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr3:46014200-46026000	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr3:46014600-46020800	Weak transcription	Small Intestine	intestine
42	chr3:46014800-46019400	Weak transcription	HSMM	muscle
43	chr3:46014800-46020800	Weak transcription	NHEK	skin
44	chr3:46015000-46019400	Weak transcription	NHDF-Ad	bronchial
45	chr3:46015000-46020000	Weak transcription	HMEC	breast
46	chr3:46015000-46022600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr3:46015000-46025200	Strong transcription	Placenta	Placenta
48	chr3:46015200-46020200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr3:46015200-46022600	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr3:46015400-46019000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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