Variant report

Variant	rs28582004
Chromosome Location	chr4:75940218-75940219
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10518133	0.98[EUR][1000 genomes]
rs11943279	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1346138	0.95[EUR][1000 genomes]
rs16997586	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17000078	1.00[ASN][1000 genomes]
rs17000108	0.95[EUR][1000 genomes]
rs17000109	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17000112	0.95[EUR][1000 genomes]
rs17000114	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17196260	1.00[ASN][1000 genomes]
rs17198085	1.00[ASN][1000 genomes]
rs17249558	1.00[ASN][1000 genomes]
rs17250403	0.98[EUR][1000 genomes]
rs17386703	1.00[ASN][1000 genomes]
rs28461358	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3775530	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56823709	1.00[ASN][1000 genomes]
rs6824037	0.98[EUR][1000 genomes]
rs6836425	0.98[EUR][1000 genomes]
rs6838268	1.00[ASN][1000 genomes]
rs72660383	0.98[EUR][1000 genomes]
rs72660386	0.98[EUR][1000 genomes]
rs72660401	1.00[ASN][1000 genomes]
rs72860964	1.00[ASN][1000 genomes]
rs72860981	1.00[ASN][1000 genomes]
rs72863950	1.00[ASN][1000 genomes]
rs7654416	0.98[EUR][1000 genomes]
rs7680016	0.98[EUR][1000 genomes]
rs987055	1.00[ASN][1000 genomes]
rs992064	1.00[ASN][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	nsv1005324	chr4:75689880-76233555	Bivalent/Poised TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv537142	chr4:75689880-76233555	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs28582004	DKFZP564O0823	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:75930400-75953000	Weak transcription	Right Atrium	heart
2	chr4:75931200-75945800	Weak transcription	Gastric	stomach
3	chr4:75933800-75941800	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr4:75936400-75940800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr4:75936400-75941800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:75936800-75941600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr4:75937000-75940400	Strong transcription	Rectal Mucosa Donor 31	rectum
8	chr4:75937000-75943200	Weak transcription	Fetal Kidney	kidney
9	chr4:75937200-75940600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr4:75937600-75941600	Strong transcription	Fetal Intestine Large	intestine
11	chr4:75937800-75941000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr4:75937800-75942600	Strong transcription	Fetal Muscle Leg	muscle
13	chr4:75938400-75944400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr4:75938400-75952800	Weak transcription	Brain Anterior Caudate	brain
15	chr4:75938600-75941600	Weak transcription	Adipose Nuclei	Adipose
16	chr4:75938800-75940400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr4:75938800-75941200	Weak transcription	Colon Smooth Muscle	Colon
18	chr4:75938800-75943200	Weak transcription	Colonic Mucosa	Colon
19	chr4:75938800-75962000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr4:75939000-75945400	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr4:75939000-75950400	Weak transcription	Primary B cells from peripheral blood	blood
22	chr4:75939200-75940800	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr4:75939200-75941400	Weak transcription	Right Ventricle	heart
24	chr4:75939600-75940400	Enhancers	Fetal Heart	heart
25	chr4:75939600-75940400	Strong transcription	Fetal Intestine Small	intestine
26	chr4:75939800-75941000	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr4:75939800-75945600	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr4:75939800-75952200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr4:75940000-75940400	Weak transcription	Aorta	Aorta
30	chr4:75940000-75941600	Weak transcription	Left Ventricle	heart
31	chr4:75940000-75941800	Weak transcription	Pancreas	Pancrea
32	chr4:75940000-75943800	Weak transcription	Fetal Muscle Trunk	muscle
33	chr4:75940000-75949800	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr4:75940000-75976200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr4:75940200-75948800	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr4:75940200-75953000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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