Variant report

Variant	rs3128399
Chromosome Location	chr7:112212780-112212781
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:112198180..112200340-chr7:112211770..112213507,2	K562	blood:
2	chr7:112211969..112212837-chr7:112538509..112539434,2	MCF-7	breast:
3	chr7:112211907..112212896-chr7:112508888..112509884,4	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1234346	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1234348	1.00[CHB][hapmap];0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs1234351	0.94[CHB][hapmap]
rs1236840	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1623536	0.94[ASN][1000 genomes]
rs1796502	0.88[CHB][hapmap]
rs1859882	0.84[EUR][1000 genomes]
rs2079530	1.00[CHB][hapmap];0.88[CHD][hapmap];0.89[JPT][hapmap];0.94[ASN][1000 genomes]
rs2097672	0.83[ASN][1000 genomes]
rs2188547	0.83[ASN][1000 genomes]
rs2860402	0.83[ASN][1000 genomes]
rs28844	0.82[ASN][1000 genomes]
rs2905278	0.83[ASN][1000 genomes]
rs2905280	0.88[CHB][hapmap]
rs2952678	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs2952687	0.94[CHB][hapmap]
rs2952688	0.94[CHB][hapmap]
rs3095051	0.82[EUR][1000 genomes]
rs3095054	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3095057	0.82[EUR][1000 genomes]
rs3111438	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3111448	0.86[EUR][1000 genomes]
rs3111451	0.84[EUR][1000 genomes]
rs3111458	0.84[EUR][1000 genomes]
rs3111459	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3128411	0.84[EUR][1000 genomes]
rs3128413	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3128414	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3128415	0.92[EUR][1000 genomes]
rs3128422	0.80[AMR][1000 genomes]
rs3128423	0.80[AMR][1000 genomes]
rs4473967	0.93[ASN][1000 genomes]
rs4518580	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs977479	0.80[ASN][1000 genomes]
rs978541	0.82[EUR][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	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
2	nsv889055	chr7:112174089-112353440	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3128399	DNAJB9	cis	parietal	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112207400-112213200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr7:112207400-112216400	Weak transcription	Psoas Muscle	Psoas
3	chr7:112209800-112213800	Weak transcription	Colonic Mucosa	Colon
4	chr7:112211200-112214600	Enhancers	Fetal Intestine Small	intestine
5	chr7:112211200-112215200	Enhancers	Fetal Intestine Large	intestine
6	chr7:112211600-112214400	Enhancers	Stomach Mucosa	stomach
7	chr7:112211800-112213800	Enhancers	HepG2	liver
8	chr7:112211800-112216800	Enhancers	Fetal Heart	heart
9	chr7:112212000-112213600	Enhancers	Primary B cells from peripheral blood	blood
10	chr7:112212200-112213800	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr7:112212200-112214000	Enhancers	Adipose Nuclei	Adipose
12	chr7:112212200-112214200	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr7:112212400-112213200	Enhancers	Right Ventricle	heart
14	chr7:112212400-112213600	Weak transcription	Pancreas	Pancrea
15	chr7:112212400-112213800	Weak transcription	Gastric	stomach
16	chr7:112212400-112214000	Enhancers	Brain Germinal Matrix	brain
17	chr7:112212400-112214000	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr7:112212400-112214800	Enhancers	Duodenum Mucosa	Duodenum
19	chr7:112212400-112215200	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr7:112212400-112216400	Weak transcription	Left Ventricle	heart
21	chr7:112212600-112213000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr7:112212600-112213200	Enhancers	Liver	Liver
23	chr7:112212600-112213400	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr7:112212600-112214800	Enhancers	K562	blood

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