Variant report

Variant	rs12348602
Chromosome Location	chr9:7136813-7136814
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10118513	1.00[AMR][1000 genomes]
rs10123010	1.00[AMR][1000 genomes]
rs10124436	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10976064	1.00[AMR][1000 genomes]
rs12343768	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:7 , 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	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
7	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	chr9:7103000-7148600	Strong transcription	Primary B cells from peripheral blood	blood
2	chr9:7104200-7148200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr9:7104400-7137600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr9:7104400-7144600	Weak transcription	Brain Anterior Caudate	brain
5	chr9:7104600-7148000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr9:7104800-7138200	Weak transcription	HSMM	muscle
7	chr9:7104800-7142800	Weak transcription	Osteobl	bone
8	chr9:7104800-7153200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr9:7105000-7146600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr9:7106200-7147600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr9:7113400-7147800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr9:7116200-7145200	Weak transcription	Colon Smooth Muscle	Colon
13	chr9:7118200-7147800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr9:7119000-7144600	Weak transcription	Right Ventricle	heart
15	chr9:7119200-7139800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr9:7121600-7148000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr9:7121800-7148800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr9:7122000-7137200	Weak transcription	K562	blood
19	chr9:7122000-7137800	Strong transcription	Primary T cells from cord blood	blood
20	chr9:7122000-7149000	Strong transcription	Primary B cells from cord blood	blood
21	chr9:7123000-7137400	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr9:7123400-7137600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr9:7123800-7144600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr9:7124000-7147800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr9:7124400-7146600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr9:7124600-7137000	Weak transcription	Brain Angular Gyrus	brain
27	chr9:7125400-7144400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr9:7125400-7146400	Weak transcription	HMEC	breast
29	chr9:7125800-7146400	Weak transcription	NHEK	skin
30	chr9:7126000-7146400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr9:7126200-7139800	Weak transcription	Hela-S3	cervix
32	chr9:7126600-7137400	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr9:7127600-7138000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr9:7128000-7137400	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr9:7128000-7153200	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr9:7128600-7139000	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr9:7129000-7145400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr9:7129000-7146600	Weak transcription	Brain Cingulate Gyrus	brain
39	chr9:7129400-7146600	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr9:7129600-7149400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr9:7129800-7137600	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr9:7129800-7147600	Weak transcription	Gastric	stomach
43	chr9:7129800-7148400	Weak transcription	Esophagus	oesophagus
44	chr9:7130000-7146800	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr9:7130000-7147000	Weak transcription	HSMMtube	muscle
46	chr9:7130200-7148000	Weak transcription	Dnd41	blood
47	chr9:7130200-7154800	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr9:7130400-7142400	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr9:7130400-7145400	Weak transcription	Brain Hippocampus Middle	brain
50	chr9:7130600-7152400	Weak transcription	Small Intestine	intestine

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