Variant report

Variant	rs13246713
Chromosome Location	chr3:196112815-196112816
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs28733677	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34439423	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35389440	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35588446	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6945000	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6945365	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7791003	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7792708	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs939906	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997797	chr3:195658360-196212958	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv1009811	chr3:195851796-196138071	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
3	nsv1003550	chr3:195885340-196159824	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
4	nsv536893	chr3:195885340-196159824	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
5	nsv1003194	chr3:195960270-196342423	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
6	nsv536894	chr3:195960270-196342423	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
7	nsv878182	chr3:195974181-196228360	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
8	nsv1003764	chr3:196028141-196190687	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
9	nsv536895	chr3:196028141-196190687	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
10	esv1844755	chr3:196057616-196190350	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
11	nsv469831	chr3:196071603-196235225	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
12	nsv482542	chr3:196071603-196235225	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
13	nsv878183	chr3:196072442-196181228	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
14	nsv1003066	chr3:196098763-196414159	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:196073600-196135800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:196083600-196143800	Weak transcription	Psoas Muscle	Psoas
3	chr3:196084600-196131600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr3:196086400-196116000	Weak transcription	A549	lung
5	chr3:196088400-196116600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr3:196089400-196116400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr3:196089600-196113600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr3:196089600-196115600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr3:196089600-196150000	Weak transcription	Small Intestine	intestine
10	chr3:196089800-196115800	Weak transcription	HUVEC	blood vessel
11	chr3:196089800-196116200	Weak transcription	Colon Smooth Muscle	Colon
12	chr3:196094000-196116400	Weak transcription	Gastric	stomach
13	chr3:196094000-196126200	Weak transcription	Colonic Mucosa	Colon
14	chr3:196094200-196116400	Weak transcription	Esophagus	oesophagus
15	chr3:196094800-196115400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:196094800-196115800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr3:196094800-196115800	Weak transcription	Brain Angular Gyrus	brain
18	chr3:196095000-196115400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr3:196095000-196115400	Weak transcription	NH-A	brain
20	chr3:196095600-196144400	Weak transcription	Fetal Heart	heart
21	chr3:196096400-196115400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr3:196098000-196126800	Weak transcription	Pancreas	Pancrea
23	chr3:196098200-196116000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr3:196098200-196116000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr3:196098400-196117000	Weak transcription	Brain Substantia Nigra	brain
26	chr3:196098600-196117000	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr3:196098800-196116000	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr3:196099000-196115400	Weak transcription	HMEC	breast
29	chr3:196099000-196115400	Weak transcription	Osteobl	bone
30	chr3:196099400-196115400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr3:196099600-196116000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr3:196102000-196115400	Weak transcription	HSMM	muscle
33	chr3:196102000-196117200	Weak transcription	NHEK	skin
34	chr3:196104400-196115400	Weak transcription	NHDF-Ad	bronchial
35	chr3:196105600-196116400	Weak transcription	Spleen	Spleen
36	chr3:196106600-196116400	Weak transcription	Brain Hippocampus Middle	brain
37	chr3:196106800-196116200	Weak transcription	HSMMtube	muscle
38	chr3:196107200-196115400	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr3:196107400-196115600	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr3:196107400-196116400	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr3:196107600-196115400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr3:196107600-196115400	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr3:196107600-196115400	Weak transcription	GM12878-XiMat	blood
44	chr3:196107600-196115800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr3:196107600-196115800	Weak transcription	Liver	Liver
46	chr3:196107600-196116000	Weak transcription	Brain Cingulate Gyrus	brain
47	chr3:196107600-196116000	Weak transcription	Stomach Smooth Muscle	stomach
48	chr3:196107600-196116200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr3:196107600-196116200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr3:196107600-196116200	Weak transcription	NHLF	lung

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