Variant report

Variant	rs17075971
Chromosome Location	chr3:43784417-43784418
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:43731404..43733866-chr3:43783837..43785763,2	MCF-7	breast:
2	chr3:43782817..43785869-chr3:43787296..43789158,3	K562	blood:
3	chr3:43782300..43785173-chr3:43789448..43791697,3	K562	blood:
4	chr3:43776786..43779260-chr3:43782048..43784711,3	K562	blood:

Variant related genes	Relation type
ENSG00000011198	Chromatin interaction
ENSG00000160746	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs3774790	0.85[CEU][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap]
rs3774792	0.83[CEU][hapmap];1.00[JPT][hapmap]
rs4432612	1.00[JPT][hapmap]
rs4682900	0.85[CEU][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap]
rs56136723	0.81[ASN][1000 genomes]
rs6441791	0.82[ASN][1000 genomes]
rs73089215	0.81[ASN][1000 genomes]
rs73089232	0.98[AFR][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	nsv834673	chr3:43622985-43799876	Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv876733	chr3:43768018-43854669	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17075971	UST	trans	lymphoblastoid	seeQTL
rs17075971	CTSC	trans	lymphoblastoid	seeQTL

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43776000-43789200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:43778200-43786400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr3:43778800-43785800	Weak transcription	Pancreas	Pancrea
4	chr3:43783200-43785600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:43783800-43784600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr3:43783800-43784600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr3:43783800-43784600	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr3:43783800-43785000	Enhancers	Fetal Intestine Small	intestine
9	chr3:43783800-43785000	Enhancers	Hela-S3	cervix
10	chr3:43783800-43786000	Enhancers	Fetal Intestine Large	intestine
11	chr3:43784000-43784600	Enhancers	Liver	Liver
12	chr3:43784000-43784600	Enhancers	Ovary	ovary
13	chr3:43784000-43785000	Enhancers	Muscle Satellite Cultured Cells	--
14	chr3:43784000-43786000	Enhancers	NHLF	lung
15	chr3:43784200-43784600	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr3:43784200-43784600	Enhancers	Brain Hippocampus Middle	brain
17	chr3:43784200-43784600	Enhancers	Fetal Lung	lung
18	chr3:43784200-43784600	Enhancers	HSMM	muscle
19	chr3:43784200-43784800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr3:43784200-43784800	Enhancers	Duodenum Mucosa	Duodenum
21	chr3:43784200-43785000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr3:43784200-43785000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr3:43784200-43785000	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr3:43784200-43785200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr3:43784200-43785200	Enhancers	NHDF-Ad	bronchial
26	chr3:43784200-43785600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr3:43784200-43785800	Weak transcription	Right Ventricle	heart
28	chr3:43784400-43784600	Enhancers	Brain Cingulate Gyrus	brain
29	chr3:43784400-43784600	Enhancers	Placenta	Placenta
30	chr3:43784400-43784800	Flanking Active TSS	Osteobl	bone
31	chr3:43784400-43785000	Flanking Active TSS	HUVEC	blood vessel

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