Variant report

Variant	rs12343768
Chromosome Location	chr9:7101417-7101418
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10115436	0.91[YRI][hapmap]
rs10118513	1.00[AMR][1000 genomes]
rs10123010	1.00[AMR][1000 genomes]
rs10124436	1.00[AMR][1000 genomes]
rs10976064	1.00[AMR][1000 genomes]
rs12348602	1.00[AMR][1000 genomes]
rs12352705	1.00[AMR][1000 genomes]
rs28615993	1.00[AMR][1000 genomes]
rs28647758	1.00[AMR][1000 genomes]
rs28681195	1.00[AMR][1000 genomes]
rs73402769	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv892166	chr9:6602821-7222495	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv1023906	chr9:6731786-7372132	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv613259	chr9:7032776-7541338	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv1015874	chr9:7048807-7434890	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv539971	chr9:7048807-7434890	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers 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 miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv869932	chr9:7068359-7133384	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv892189	chr9:7091968-7150997	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv892190	chr9:7094860-7186074	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:7012200-7111200	Weak transcription	Colonic Mucosa	Colon
2	chr9:7034000-7103600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr9:7043400-7103600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr9:7051600-7103200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr9:7061200-7104600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr9:7061600-7103600	Weak transcription	Spleen	Spleen
7	chr9:7067200-7103600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr9:7068400-7103600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr9:7075600-7105800	Weak transcription	NHLF	lung
10	chr9:7076600-7103600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr9:7077800-7103200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr9:7077800-7103200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr9:7077800-7103600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr9:7077800-7103600	Weak transcription	Brain Angular Gyrus	brain
15	chr9:7077800-7103600	Weak transcription	HMEC	breast
16	chr9:7077800-7103600	Weak transcription	K562	blood
17	chr9:7077800-7103800	Weak transcription	HSMM	muscle
18	chr9:7078000-7103600	Weak transcription	Dnd41	blood
19	chr9:7078200-7103800	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr9:7079400-7103200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr9:7079600-7103600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr9:7082800-7103600	Weak transcription	Pancreas	Pancrea
23	chr9:7085400-7103600	Weak transcription	Brain Anterior Caudate	brain
24	chr9:7086600-7105600	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr9:7087000-7103400	Weak transcription	Fetal Stomach	stomach
26	chr9:7087000-7103400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr9:7087000-7103600	Weak transcription	Aorta	Aorta
28	chr9:7087000-7103600	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr9:7087000-7103600	Weak transcription	Fetal Intestine Large	intestine
30	chr9:7087000-7103600	Weak transcription	Gastric	stomach
31	chr9:7087200-7103600	Weak transcription	HepG2	liver
32	chr9:7087200-7103800	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr9:7088600-7103600	Weak transcription	Brain Hippocampus Middle	brain
34	chr9:7088800-7128000	Weak transcription	Brain Cingulate Gyrus	brain
35	chr9:7089000-7103200	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr9:7090200-7103600	Weak transcription	Fetal Muscle Trunk	muscle
37	chr9:7090200-7104000	Weak transcription	Right Ventricle	heart
38	chr9:7090800-7103000	Weak transcription	Fetal Heart	heart
39	chr9:7092800-7104200	Weak transcription	Left Ventricle	heart
40	chr9:7094200-7103800	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr9:7095400-7107400	Weak transcription	Fetal Kidney	kidney
42	chr9:7096800-7103400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr9:7097200-7103000	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr9:7097200-7103600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr9:7097200-7103600	Weak transcription	Small Intestine	intestine
46	chr9:7097400-7103600	Weak transcription	Ovary	ovary
47	chr9:7097600-7103400	Weak transcription	Thymus	Thymus
48	chr9:7097600-7103600	Weak transcription	Lung	lung
49	chr9:7098000-7103800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr9:7098400-7103400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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