Variant report

Variant	rs11714816
Chromosome Location	chr3:47532235-47532236
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:47531710..47533758-chr3:47535472..47538137,2	K562	blood:
2	chr3:47532160..47534157-chr3:47539649..47541770,2	K562	blood:

Variant related genes	Relation type
ENSG00000271161	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1038391	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11130134	1.00[EUR][1000 genomes]
rs12631697	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs13091992	0.85[AMR][1000 genomes]
rs13094615	0.82[AFR][1000 genomes]
rs1486916	1.00[EUR][1000 genomes]
rs2170814	1.00[EUR][1000 genomes]
rs2351249	1.00[EUR][1000 genomes]
rs4383546	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4858833	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4858834	1.00[EUR][1000 genomes]
rs4858855	1.00[EUR][1000 genomes]
rs55736379	1.00[EUR][1000 genomes]
rs6783591	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs6791025	0.94[AMR][1000 genomes]
rs73831515	1.00[EUR][1000 genomes]
rs7636126	0.91[AFR][1000 genomes];0.89[AMR][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	nsv876756	chr3:47002931-47586514	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47517800-47535200	Weak transcription	Esophagus	oesophagus
2	chr3:47517800-47536600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:47517800-47544400	Weak transcription	Small Intestine	intestine
4	chr3:47518200-47536600	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr3:47518200-47541600	Weak transcription	Fetal Kidney	kidney
6	chr3:47518400-47532800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr3:47518400-47535200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr3:47518400-47535600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr3:47518400-47536600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr3:47518400-47536600	Weak transcription	Primary T cells from cord blood	blood
11	chr3:47518400-47536600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr3:47518400-47536600	Weak transcription	Aorta	Aorta
13	chr3:47518400-47536600	Weak transcription	Duodenum Mucosa	Duodenum
14	chr3:47518400-47536600	Weak transcription	Fetal Muscle Leg	muscle
15	chr3:47518400-47536600	Weak transcription	Gastric	stomach
16	chr3:47518400-47536600	Weak transcription	HSMMtube	muscle
17	chr3:47518400-47536600	Weak transcription	NHLF	lung
18	chr3:47518400-47536800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr3:47518400-47536800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr3:47518400-47537000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr3:47518400-47539400	Weak transcription	Primary hematopoietic stem cells	blood
22	chr3:47518600-47532400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr3:47518600-47533200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr3:47518600-47535400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr3:47518600-47536400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr3:47518600-47536600	Weak transcription	Primary B cells from cord blood	blood
27	chr3:47518600-47536600	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr3:47518600-47536600	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr3:47518600-47536600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr3:47518600-47536600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr3:47518600-47536600	Weak transcription	Adipose Nuclei	Adipose
32	chr3:47518600-47536600	Weak transcription	Placenta	Placenta
33	chr3:47518600-47536600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr3:47518600-47536800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr3:47518600-47536800	Weak transcription	Colon Smooth Muscle	Colon
36	chr3:47518600-47536800	Weak transcription	Rectal Smooth Muscle	rectum
37	chr3:47518800-47532400	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr3:47518800-47532800	Weak transcription	Stomach Smooth Muscle	stomach
39	chr3:47518800-47535200	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr3:47518800-47535200	Weak transcription	Liver	Liver
41	chr3:47518800-47535400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr3:47518800-47536600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr3:47518800-47536600	Weak transcription	Brain Anterior Caudate	brain
44	chr3:47518800-47536600	Weak transcription	Brain Cingulate Gyrus	brain
45	chr3:47518800-47536600	Weak transcription	Pancreas	Pancrea
46	chr3:47518800-47536600	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr3:47518800-47536600	Weak transcription	Spleen	Spleen
48	chr3:47518800-47536800	Weak transcription	Brain Angular Gyrus	brain
49	chr3:47518800-47536800	Weak transcription	Brain Hippocampus Middle	brain
50	chr3:47518800-47536800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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