Variant report

Variant	rs9813514
Chromosome Location	chr3:69080181-69080182
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:69079707-69081624	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:69071277..69075942-chr3:69076171..69080932,5	MCF-7	breast:

Variant related genes	Relation type
TMF1	TF binding region
ENSG00000244513	TF binding region
ENSG00000144747	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10489	0.81[JPT][hapmap]
rs13063094	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13090606	0.83[CEU][hapmap];0.86[CHB][hapmap]
rs13099820	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2009602	0.94[CEU][hapmap];0.93[CHB][hapmap];0.95[JPT][hapmap];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2271118	0.83[CEU][hapmap];0.84[EUR][1000 genomes]
rs2271120	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs2271122	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2279936	0.83[CEU][hapmap];0.84[EUR][1000 genomes]
rs2292198	0.81[ASN][1000 genomes]
rs2292199	0.88[CEU][hapmap];0.86[CHB][hapmap];0.85[EUR][1000 genomes]
rs35718539	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3755717	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3755721	0.81[ASN][1000 genomes]
rs3772979	0.94[CEU][hapmap];0.93[CHB][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3821562	0.95[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3853157	0.94[CEU][hapmap];0.93[CHB][hapmap];0.95[JPT][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56156415	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58950441	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6549162	0.81[EUR][1000 genomes]
rs6549181	0.94[CEU][hapmap];0.93[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6549184	0.81[JPT][hapmap]
rs6775065	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6775256	0.93[CHB][hapmap];0.82[JPT][hapmap];0.85[YRI][hapmap];0.81[ASN][1000 genomes]
rs6777032	0.95[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6782474	0.83[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6787569	0.93[CHB][hapmap];0.81[JPT][hapmap];0.84[YRI][hapmap];0.81[ASN][1000 genomes]
rs6807701	0.81[EUR][1000 genomes]
rs714300	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7615341	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7625579	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs9826616	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[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	nsv876933	chr3:69059023-69227379	Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69063400-69081800	Weak transcription	Gastric	stomach
2	chr3:69063400-69100200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:69063600-69080800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr3:69063600-69081200	Weak transcription	Small Intestine	intestine
5	chr3:69064000-69081800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr3:69064000-69098600	Weak transcription	Hela-S3	cervix
7	chr3:69064200-69082000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr3:69065000-69081400	Weak transcription	Aorta	Aorta
9	chr3:69065200-69081000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr3:69065400-69080800	Strong transcription	Osteobl	bone
11	chr3:69065600-69080600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr3:69065800-69082000	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr3:69066000-69086400	Strong transcription	HSMM	muscle
14	chr3:69066000-69095800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr3:69066000-69096400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr3:69066400-69096800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr3:69066600-69099000	Strong transcription	Placenta	Placenta
18	chr3:69067400-69098200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr3:69067600-69090800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr3:69069200-69099000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:69069400-69081200	Strong transcription	NH-A	brain
22	chr3:69069400-69097800	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr3:69070000-69082400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr3:69070200-69081400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr3:69070200-69096400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr3:69070400-69082000	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr3:69070400-69098000	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr3:69070400-69098400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr3:69070600-69089600	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr3:69070600-69095800	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr3:69070600-69097800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr3:69071000-69090200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr3:69071000-69098400	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr3:69071000-69098600	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr3:69071200-69098200	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr3:69072200-69083000	Strong transcription	Brain Anterior Caudate	brain
37	chr3:69072200-69090000	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr3:69072200-69096200	Strong transcription	Liver	Liver
39	chr3:69072200-69098200	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr3:69072400-69090400	Strong transcription	Adipose Nuclei	Adipose
41	chr3:69072400-69096400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr3:69072400-69097200	Strong transcription	Primary B cells from peripheral blood	blood
43	chr3:69072400-69098000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr3:69072600-69084800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr3:69072600-69097400	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr3:69072600-69097800	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr3:69072600-69098600	Strong transcription	Fetal Intestine Large	intestine
48	chr3:69072800-69097200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr3:69073400-69080200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr3:69073400-69084600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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