Variant report

Variant	rs9815079
Chromosome Location	chr3:48289053-48289054
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:48281489..48285541-chr3:48286878..48291166,4	MCF-7	breast:
2	chr3:48281256..48284986-chr3:48287770..48291151,3	K562	blood:

Variant related genes	Relation type
ENSG00000164048	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs13313966	1.00[AFR][1000 genomes]
rs9823457	1.00[ASW][hapmap];0.85[YRI][hapmap];0.87[AFR][1000 genomes]
rs9841713	1.00[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529989	chr3:47909480-48301481	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1009243	chr3:47935331-48340448	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv536562	chr3:47935331-48340448	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1002067	chr3:47996472-48326518	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv834682	chr3:48138137-48311122	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9815079	QARS	cis	lymphoblastoid	seeQTL

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48283200-48309800	Weak transcription	Fetal Lung	lung
2	chr3:48283400-48295200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr3:48283400-48297600	Weak transcription	Right Ventricle	heart
4	chr3:48283400-48300400	Weak transcription	Gastric	stomach
5	chr3:48283400-48310000	Weak transcription	NH-A	brain
6	chr3:48283400-48315200	Weak transcription	Ovary	ovary
7	chr3:48283600-48289800	Weak transcription	Liver	Liver
8	chr3:48283600-48290800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr3:48283600-48291200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr3:48283600-48297800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr3:48283600-48300200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr3:48283600-48300800	Weak transcription	Colon Smooth Muscle	Colon
13	chr3:48283600-48309600	Weak transcription	Fetal Intestine Large	intestine
14	chr3:48283800-48289600	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr3:48283800-48289800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr3:48283800-48289800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr3:48283800-48290000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr3:48283800-48290000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr3:48283800-48297600	Weak transcription	Esophagus	oesophagus
20	chr3:48283800-48307600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr3:48283800-48309400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr3:48283800-48310400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr3:48284000-48289600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr3:48284000-48289600	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr3:48284000-48292600	Weak transcription	Colonic Mucosa	Colon
26	chr3:48284200-48297600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr3:48284200-48302800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr3:48284800-48289600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr3:48285000-48289600	Weak transcription	Fetal Thymus	thymus
30	chr3:48285000-48290800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr3:48285000-48292400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr3:48285200-48297600	Weak transcription	Lung	lung
33	chr3:48285400-48303000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr3:48285600-48289400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr3:48285600-48289600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr3:48285600-48290000	Weak transcription	Fetal Brain Female	brain
37	chr3:48285600-48290000	Weak transcription	Left Ventricle	heart
38	chr3:48285600-48290800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr3:48285600-48293800	Weak transcription	HSMM	muscle
40	chr3:48285600-48295600	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr3:48285600-48297200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr3:48285600-48308200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr3:48285600-48312400	Weak transcription	Psoas Muscle	Psoas
44	chr3:48285800-48289200	Weak transcription	Primary B cells from peripheral blood	blood
45	chr3:48285800-48289400	Weak transcription	Brain Germinal Matrix	brain
46	chr3:48285800-48289600	Weak transcription	Dnd41	blood
47	chr3:48285800-48289800	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr3:48285800-48297600	Weak transcription	Aorta	Aorta
49	chr3:48285800-48300200	Weak transcription	Fetal Muscle Leg	muscle
50	chr3:48285800-48307600	Weak transcription	Pancreas	Pancrea

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