Variant report

Variant	rs2583619
Chromosome Location	chr4:120652805-120652806
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:120549837..120550682-chr4:120652400..120652958,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138735	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11722624	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11734863	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17005489	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2248806	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2250346	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2252565	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2252621	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2252625	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2256054	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2256834	0.98[ASN][1000 genomes]
rs2583596	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2583597	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2583604	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2583605	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2583608	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2583616	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2583617	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2714960	0.95[CHB][hapmap];0.94[JPT][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2714961	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2714965	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2714970	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2714973	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2714976	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2714978	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2714980	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2714985	0.98[ASN][1000 genomes]
rs2715026	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4834806	0.82[EUR][1000 genomes]
rs725449	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7437666	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv532739	chr4:120392824-121098103	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv1010753	chr4:120429028-120684310	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv537233	chr4:120429028-120684310	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1006572	chr4:120432494-120694243	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv1802546	chr4:120558608-120675026	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1010638	chr4:120586178-120671835	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1009771	chr4:120590902-120665812	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv1803992	chr4:120649398-120665812	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2583619	FLJ14186///LOC284701///LOC441124///LOC728624	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120649400-120653000	Enhancers	Hela-S3	cervix
2	chr4:120649600-120658200	Enhancers	NHLF	lung
3	chr4:120649800-120653200	Enhancers	Osteobl	bone
4	chr4:120650000-120653000	Enhancers	NH-A	brain
5	chr4:120650000-120653400	Enhancers	HSMM	muscle
6	chr4:120650200-120653000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:120650200-120653200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr4:120650200-120653400	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr4:120650200-120653600	Enhancers	Fetal Lung	lung
10	chr4:120650200-120658000	Enhancers	HSMMtube	muscle
11	chr4:120650200-120658400	Enhancers	NHDF-Ad	bronchial
12	chr4:120650400-120653600	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr4:120650400-120653600	Enhancers	Stomach Mucosa	stomach
14	chr4:120650400-120657200	Weak transcription	Psoas Muscle	Psoas
15	chr4:120651000-120653000	Enhancers	Rectal Mucosa Donor 29	rectum
16	chr4:120651000-120653200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr4:120651000-120653200	Enhancers	Liver	Liver
18	chr4:120651200-120653600	Enhancers	Adipose Nuclei	Adipose
19	chr4:120651200-120656000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr4:120651400-120653200	Enhancers	Right Atrium	heart
21	chr4:120651400-120653400	Enhancers	Ovary	ovary
22	chr4:120651400-120654000	Enhancers	Placenta	Placenta
23	chr4:120651600-120656000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr4:120651600-120658000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr4:120651800-120653200	Enhancers	Aorta	Aorta
26	chr4:120651800-120656000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr4:120651800-120656000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr4:120652000-120653600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr4:120652000-120658600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr4:120652200-120653000	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr4:120652200-120653000	Weak transcription	Left Ventricle	heart
32	chr4:120652200-120656200	Weak transcription	Rectal Smooth Muscle	rectum
33	chr4:120652200-120656200	Weak transcription	A549	lung
34	chr4:120652200-120658200	Enhancers	Muscle Satellite Cultured Cells	--
35	chr4:120652400-120655800	Weak transcription	HMEC	breast
36	chr4:120652600-120653400	Enhancers	Fetal Kidney	kidney
37	chr4:120652600-120653400	Enhancers	Pancreas	Pancrea
38	chr4:120652600-120654200	Enhancers	Fetal Heart	heart
39	chr4:120652600-120655800	Weak transcription	Colon Smooth Muscle	Colon
40	chr4:120652800-120653000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr4:120652800-120653200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr4:120652800-120653200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr4:120652800-120653200	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr4:120652800-120653200	Enhancers	Small Intestine	intestine
45	chr4:120652800-120653400	Enhancers	Duodenum Mucosa	Duodenum
46	chr4:120652800-120653400	Enhancers	Fetal Stomach	stomach
47	chr4:120652800-120653400	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr4:120652800-120656000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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