Variant report

Variant	rs3775527
Chromosome Location	chr4:75938179-75938180
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10049552	0.82[EUR][1000 genomes]
rs10049553	0.81[EUR][1000 genomes]
rs1062293	0.85[CHD][hapmap]
rs11098475	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11730113	0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2114176	0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3822109	0.93[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.93[TSI][hapmap];0.90[YRI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];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
rs3775527	PARM1	cis	parietal	SCAN

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:75930400-75953000	Weak transcription	Right Atrium	heart
2	chr4:75931200-75938200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr4:75931200-75945800	Weak transcription	Gastric	stomach
4	chr4:75933800-75941800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr4:75934200-75938400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr4:75935000-75939600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr4:75936200-75939600	Weak transcription	Spleen	Spleen
8	chr4:75936400-75940800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr4:75936400-75941800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr4:75936800-75941600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr4:75937000-75938400	Strong transcription	Aorta	Aorta
12	chr4:75937000-75939200	Strong transcription	Skeletal Muscle Female	skeletal muscle
13	chr4:75937000-75940400	Strong transcription	Rectal Mucosa Donor 31	rectum
14	chr4:75937000-75943200	Weak transcription	Fetal Kidney	kidney
15	chr4:75937200-75938800	Strong transcription	Rectal Smooth Muscle	rectum
16	chr4:75937200-75939000	Strong transcription	Primary B cells from peripheral blood	blood
17	chr4:75937200-75939600	Weak transcription	Left Ventricle	heart
18	chr4:75937200-75940600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr4:75937400-75940000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr4:75937400-75940200	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr4:75937600-75938200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr4:75937600-75938600	Strong transcription	Adipose Nuclei	Adipose
23	chr4:75937600-75939600	Strong transcription	Sigmoid Colon	Sigmoid Colon
24	chr4:75937600-75941600	Strong transcription	Fetal Intestine Large	intestine
25	chr4:75937800-75938200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr4:75937800-75938400	Strong transcription	H9 Cell Line	embryonic stem cell
27	chr4:75937800-75938400	Strong transcription	Brain Anterior Caudate	brain
28	chr4:75937800-75938400	Strong transcription	Fetal Intestine Small	intestine
29	chr4:75937800-75938400	Strong transcription	Pancreas	Pancrea
30	chr4:75937800-75938800	Strong transcription	Colonic Mucosa	Colon
31	chr4:75937800-75938800	Strong transcription	Colon Smooth Muscle	Colon
32	chr4:75937800-75939000	Strong transcription	Brain Inferior Temporal Lobe	brain
33	chr4:75937800-75939200	Strong transcription	Right Ventricle	heart
34	chr4:75937800-75940000	Strong transcription	Pancreatic Islets	Pancreatic Islet
35	chr4:75937800-75940000	Strong transcription	Fetal Muscle Trunk	muscle
36	chr4:75937800-75941000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr4:75937800-75942600	Strong transcription	Fetal Muscle Leg	muscle
38	chr4:75938000-75938200	ZNF genes & repeats	Lung	lung
39	chr4:75938000-75938800	Strong transcription	Fetal Heart	heart

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