Variant report

Variant	rs6594653
Chromosome Location	chr5:112317984-112317985
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	WRNIP1	chr5:112317869-112318085	GM12878	blood:	n/a	n/a
2	GATA3	chr5:112317833-112318101	T-47D	breast:	n/a	chr5:112317935-112317942
3	POLR2A	chr5:112317933-112318957	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:112311145..112314018-chr5:112314616..112318663,4	MCF-7	breast:
2	chr5:112312383..112314551-chr5:112314826..112319334,4	MCF-7	breast:
3	chr5:112317791..112320092-chr5:112860829..112862554,2	K562	blood:

Variant related genes	Relation type
DCP2	TF binding region
ENSG00000172795	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10478101	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1978430	1.00[CEU][hapmap]
rs2080898	0.81[CEU][hapmap];0.93[EUR][1000 genomes]
rs2080899	0.93[EUR][1000 genomes]
rs33548	1.00[CEU][hapmap]
rs3733968	0.84[ASN][1000 genomes]
rs57874459	0.92[EUR][1000 genomes]
rs66612320	0.91[EUR][1000 genomes]
rs6879139	0.91[EUR][1000 genomes]
rs6896598	1.00[CHB][hapmap]
rs73229015	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][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	nsv1029271	chr5:112113308-112325943	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv599394	chr5:112185491-112446323	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1019756	chr5:112242315-112325943	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1028759	chr5:112300490-112358514	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6594653	DCP2	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112313200-112329000	Weak transcription	Spleen	Spleen
2	chr5:112313800-112337600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr5:112314000-112318800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:112314000-112320000	Weak transcription	Pancreas	Pancrea
5	chr5:112314000-112329000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:112314000-112335400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr5:112314000-112337200	Weak transcription	Lung	lung
8	chr5:112314000-112338200	Weak transcription	Gastric	stomach
9	chr5:112314200-112318000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:112314200-112319800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr5:112314200-112326800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr5:112314200-112328800	Weak transcription	Fetal Muscle Trunk	muscle
13	chr5:112314200-112328800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr5:112314200-112332000	Weak transcription	Fetal Kidney	kidney
15	chr5:112314200-112332000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr5:112314200-112337000	Weak transcription	HSMMtube	muscle
17	chr5:112314200-112338200	Weak transcription	Aorta	Aorta
18	chr5:112314200-112341000	Weak transcription	Small Intestine	intestine
19	chr5:112314200-112349600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr5:112314200-112356800	Weak transcription	Stomach Mucosa	stomach
21	chr5:112314200-112362600	Weak transcription	Colonic Mucosa	Colon
22	chr5:112314400-112318200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr5:112314400-112322400	Weak transcription	Thymus	Thymus
24	chr5:112314400-112338400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr5:112314800-112318200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr5:112314800-112318200	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr5:112314800-112320000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr5:112314800-112322400	Weak transcription	Liver	Liver
29	chr5:112314800-112324400	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr5:112314800-112324400	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr5:112314800-112325800	Weak transcription	Primary hematopoietic stem cells	blood
32	chr5:112314800-112332000	Weak transcription	Brain Hippocampus Middle	brain
33	chr5:112314800-112332000	Weak transcription	NHLF	lung
34	chr5:112314800-112332200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr5:112314800-112337200	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr5:112314800-112349200	Weak transcription	Brain Substantia Nigra	brain
37	chr5:112315400-112330800	Weak transcription	Brain Anterior Caudate	brain
38	chr5:112315600-112318200	Enhancers	HepG2	liver
39	chr5:112315600-112318600	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr5:112315600-112328600	Weak transcription	Duodenum Mucosa	Duodenum
41	chr5:112315600-112332000	Weak transcription	NHDF-Ad	bronchial
42	chr5:112315600-112332200	Weak transcription	Ovary	ovary
43	chr5:112315600-112339400	Weak transcription	Hela-S3	cervix
44	chr5:112315600-112362600	Weak transcription	Brain Angular Gyrus	brain
45	chr5:112315800-112319200	Weak transcription	HUVEC	blood vessel
46	chr5:112315800-112319600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr5:112315800-112329200	Weak transcription	Colon Smooth Muscle	Colon
48	chr5:112315800-112334600	Weak transcription	Brain Germinal Matrix	brain
49	chr5:112316000-112318800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr5:112316000-112319000	Strong transcription	Monocytes-CD14+_RO01746	blood

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