Variant report

Variant	rs36083483
Chromosome Location	chr1:222992393-222992394
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:222991311..222993409-chr1:222996099..222997727,2	MCF-7	breast:
2	chr1:222986543..222989514-chr1:222992285..222994784,2	K562	blood:
3	chr1:222638388..222640436-chr1:222991822..222993903,2	K562	blood:

Variant related genes	Relation type
ENSG00000154309	Chromatin interaction
ENSG00000228106	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs17475431	1.00[ASN][1000 genomes]
rs17476063	0.97[EUR][1000 genomes]
rs28362013	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34096996	0.84[ASN][1000 genomes]
rs34139393	0.91[ASN][1000 genomes]
rs34229647	1.00[ASN][1000 genomes]
rs34300028	0.84[ASN][1000 genomes]
rs34505570	0.91[ASN][1000 genomes]
rs34898792	0.84[ASN][1000 genomes]
rs34950986	0.91[ASN][1000 genomes]
rs35270311	1.00[ASN][1000 genomes]
rs35497286	0.91[ASN][1000 genomes]
rs35591569	0.88[ASN][1000 genomes]
rs35787799	0.84[ASN][1000 genomes]
rs4609435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61838099	0.84[ASN][1000 genomes]
rs61838105	0.91[ASN][1000 genomes]
rs61838107	0.91[ASN][1000 genomes]
rs61838112	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61838113	1.00[ASN][1000 genomes]
rs61838114	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61838115	1.00[ASN][1000 genomes]
rs61839589	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv873206	chr1:222985197-223124916	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs36083483	RP11-452F19.3	cis	Esophagus Muscularis	GTEx

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222989000-222999200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:222989200-222992400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:222989200-222992400	Weak transcription	Ovary	ovary
4	chr1:222989200-222992400	Enhancers	Rectal Smooth Muscle	rectum
5	chr1:222989200-222993000	Weak transcription	Fetal Thymus	thymus
6	chr1:222989200-222994000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr1:222989200-222997600	Weak transcription	Fetal Brain Male	brain
8	chr1:222989200-222999000	Weak transcription	Lung	lung
9	chr1:222989400-222993800	Weak transcription	Adipose Nuclei	Adipose
10	chr1:222989400-222996800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr1:222989400-222999000	Weak transcription	Stomach Mucosa	stomach
12	chr1:222989400-223002800	Weak transcription	Fetal Intestine Small	intestine
13	chr1:222989400-223026800	Weak transcription	Fetal Muscle Leg	muscle
14	chr1:222989800-222992400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:222989800-222992400	Enhancers	Hela-S3	cervix
16	chr1:222989800-222992400	Enhancers	Osteobl	bone
17	chr1:222990000-222992400	Enhancers	Colon Smooth Muscle	Colon
18	chr1:222990200-222993600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr1:222990200-222997000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr1:222990400-222992400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:222990400-222997600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr1:222990400-223027400	Weak transcription	Primary B cells from cord blood	blood
23	chr1:222990800-222995000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:222991000-222996000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:222991000-222996600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:222991000-222998000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr1:222991200-222996000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:222991200-223010200	Weak transcription	Primary B cells from peripheral blood	blood
29	chr1:222991400-222996800	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr1:222991600-222997800	Weak transcription	A549	lung
31	chr1:222991600-222998000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr1:222991800-222993400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:222991800-222993800	Weak transcription	NHLF	lung
34	chr1:222991800-222997600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:222991800-223001800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr1:222991800-223003200	Weak transcription	Stomach Smooth Muscle	stomach
37	chr1:222991800-223017200	Weak transcription	Aorta	Aorta
38	chr1:222992000-222992400	Weak transcription	Fetal Lung	lung
39	chr1:222992000-222992400	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr1:222992000-222993200	Weak transcription	NHDF-Ad	bronchial
41	chr1:222992000-222997400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr1:222992000-222997600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr1:222992000-222997800	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr1:222992000-222998000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr1:222992200-222992400	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr1:222992200-222993200	Weak transcription	NHEK	skin
47	chr1:222992200-222993600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr1:222992200-222993600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr1:222992200-222993600	Weak transcription	HMEC	breast
50	chr1:222992200-222993800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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