Variant report

Variant	rs3788466
Chromosome Location	chr22:33021338-33021339
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:33014781..33017660-chr22:33019637..33021375,2	MCF-7	breast:
2	chr22:33015941..33022634-chr22:33022783..33027992,6	MCF-7	breast:
3	chr22:32957485..32959832-chr22:33020527..33022697,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs131067	1.00[CHB][hapmap]
rs13340090	1.00[JPT][hapmap]
rs16985304	1.00[JPT][hapmap];0.84[YRI][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16990851	1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs16990852	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs56678072	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs57696440	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs57751077	1.00[ASN][1000 genomes]
rs57835387	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59218864	0.90[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs59354128	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs59683873	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs59972896	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs738994	1.00[JPT][hapmap]
rs7511209	1.00[JPT][hapmap];0.85[LWK][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8136931	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8137407	1.00[JPT][hapmap]
rs8137653	0.80[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8139704	1.00[JPT][hapmap]
rs8139932	1.00[JPT][hapmap]
rs9619281	1.00[JPT][hapmap]
rs9621514	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055541	chr22:33006967-33101138	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv2762119	chr22:33006967-33101150	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1061824	chr22:33013014-33101138	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3788466	DDX6	trans	brain	seeQTL

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33014200-33022200	Weak transcription	Small Intestine	intestine
2	chr22:33017000-33022600	Enhancers	Fetal Lung	lung
3	chr22:33017000-33022600	Enhancers	Right Atrium	heart
4	chr22:33017000-33025800	Enhancers	Left Ventricle	heart
5	chr22:33017000-33025800	Enhancers	Spleen	Spleen
6	chr22:33017000-33027200	Enhancers	Placenta	Placenta
7	chr22:33017800-33022200	Weak transcription	Psoas Muscle	Psoas
8	chr22:33017800-33022200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr22:33018400-33025800	Enhancers	Adipose Nuclei	Adipose
10	chr22:33018600-33021400	Enhancers	Fetal Muscle Trunk	muscle
11	chr22:33018600-33021400	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr22:33018600-33023800	Enhancers	Hela-S3	cervix
13	chr22:33019000-33022200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr22:33019000-33022600	Weak transcription	Fetal Thymus	thymus
15	chr22:33019000-33023400	Weak transcription	Brain Anterior Caudate	brain
16	chr22:33019000-33023600	Enhancers	Lung	lung
17	chr22:33019200-33022000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr22:33019200-33022400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr22:33019200-33024800	Enhancers	HepG2	liver
20	chr22:33019400-33022200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr22:33019600-33024800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr22:33019800-33024400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr22:33019800-33025200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr22:33020000-33023200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr22:33020200-33024400	Weak transcription	Fetal Intestine Small	intestine
26	chr22:33020400-33022000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr22:33020400-33022000	Weak transcription	NHDF-Ad	bronchial
28	chr22:33020400-33024200	Weak transcription	Liver	Liver
29	chr22:33020600-33021600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr22:33020600-33021800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr22:33020600-33021800	Weak transcription	Right Ventricle	heart
32	chr22:33020600-33022000	Weak transcription	Colonic Mucosa	Colon
33	chr22:33020600-33023200	Weak transcription	Fetal Kidney	kidney
34	chr22:33020600-33030200	Weak transcription	Colon Smooth Muscle	Colon
35	chr22:33020800-33022000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr22:33020800-33022000	Weak transcription	Ovary	ovary
37	chr22:33021000-33021400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr22:33021000-33022000	Weak transcription	Fetal Muscle Leg	muscle
39	chr22:33021000-33022200	Weak transcription	Fetal Stomach	stomach
40	chr22:33021000-33022600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr22:33021000-33024200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr22:33021200-33022400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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