Variant report

Variant	rs3818760
Chromosome Location	chr9:101759372-101759373
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:101747842..101750157-chr9:101758155..101760265,2	MCF-7	breast:
2	chr9:101757724..101761274-chr9:101835762..101837823,3	K562	blood:
3	chr9:101757461..101761274-chr9:101835859..101838201,6	K562	blood:
4	chr9:101751401..101755112-chr9:101755767..101760642,5	MCF-7	breast:
5	chr9:101645126..101648044-chr9:101758255..101760176,2	K562	blood:
6	chr9:101755503..101758615-chr9:101759001..101763298,4	K562	blood:
7	chr9:101757566..101760026-chr9:101844039..101846861,2	K562	blood:
8	chr9:101759295..101764429-chr9:101866150..101870418,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000106799	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs16918103	1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs16918110	1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs16918124	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16918128	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2274963	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs57803670	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62561243	0.86[ASN][1000 genomes]
rs7035837	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7859159	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs874165	0.80[AMR][1000 genomes]
rs914993	0.91[MEX][hapmap];0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv6635	chr9:101728257-101773253	Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3818760	PRSS21	trans	lymphoblastoid	seeQTL

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:101737800-101760800	Weak transcription	Gastric	stomach
2	chr9:101752000-101760800	Weak transcription	Brain Hippocampus Middle	brain
3	chr9:101753000-101759800	Weak transcription	Hela-S3	cervix
4	chr9:101754800-101761800	Enhancers	Right Ventricle	heart
5	chr9:101755200-101759800	Enhancers	Fetal Heart	heart
6	chr9:101755200-101760800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr9:101755200-101761000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr9:101755600-101760800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr9:101755600-101761800	Enhancers	Left Ventricle	heart
10	chr9:101755800-101760000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr9:101755800-101760800	Weak transcription	Brain Substantia Nigra	brain
12	chr9:101755800-101761800	Enhancers	Rectal Smooth Muscle	rectum
13	chr9:101756000-101759800	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr9:101756000-101761000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr9:101756200-101759800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr9:101756400-101761400	Weak transcription	Spleen	Spleen
17	chr9:101757000-101759800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr9:101757400-101763400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr9:101757600-101760800	Weak transcription	Fetal Intestine Small	intestine
20	chr9:101757600-101760800	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr9:101757800-101760000	Weak transcription	Duodenum Mucosa	Duodenum
22	chr9:101757800-101760000	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr9:101757800-101760600	Enhancers	Stomach Smooth Muscle	stomach
24	chr9:101757800-101760800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr9:101758000-101759400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr9:101758000-101759400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr9:101758000-101759400	Weak transcription	Right Atrium	heart
28	chr9:101758000-101759800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr9:101758000-101759800	Weak transcription	Aorta	Aorta
30	chr9:101758000-101759800	Weak transcription	Lung	lung
31	chr9:101758000-101760000	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr9:101758000-101760000	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr9:101758000-101760800	Weak transcription	Ovary	ovary
34	chr9:101758000-101760800	Weak transcription	Pancreas	Pancrea
35	chr9:101758000-101761200	Weak transcription	Colonic Mucosa	Colon
36	chr9:101758200-101759600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr9:101758600-101759400	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr9:101759000-101759800	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr9:101759000-101761000	Enhancers	Colon Smooth Muscle	Colon
40	chr9:101759000-101762000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr9:101759200-101759600	Genic enhancers	Placenta	Placenta
42	chr9:101759200-101759600	Bivalent Enhancer	HSMMtube	muscle
43	chr9:101759200-101760000	Genic enhancers	Adipose Nuclei	Adipose
44	chr9:101759200-101761800	Genic enhancers	Fetal Muscle Leg	muscle
45	chr9:101759200-101761800	Genic enhancers	Fetal Stomach	stomach
46	chr9:101759200-101761800	Enhancers	NHDF-Ad	bronchial
47	chr9:101759200-101762000	Genic enhancers	Fetal Muscle Trunk	muscle

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