Variant report

Variant	rs12341129
Chromosome Location	chr9:108306138-108306139
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10991684	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12342016	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893692	chr9:108218852-108320988	ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
2	nsv1050141	chr9:108219667-108317424	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
3	nsv1049133	chr9:108292302-108356068	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:108214600-108309800	Weak transcription	HUVEC	blood vessel
2	chr9:108222600-108311400	Weak transcription	Fetal Heart	heart
3	chr9:108276200-108309200	Weak transcription	Lung	lung
4	chr9:108279000-108311400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr9:108279000-108317600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr9:108279200-108313000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr9:108282400-108312400	Weak transcription	HepG2	liver
8	chr9:108282400-108319800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr9:108282400-108319800	Weak transcription	Left Ventricle	heart
10	chr9:108282400-108319800	Weak transcription	Psoas Muscle	Psoas
11	chr9:108282600-108319800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr9:108289200-108306200	Weak transcription	Fetal Brain Male	brain
13	chr9:108289800-108309800	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr9:108291800-108310200	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr9:108292600-108319800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr9:108293800-108319800	Weak transcription	Liver	Liver
17	chr9:108294800-108312000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr9:108294800-108319800	Weak transcription	Hela-S3	cervix
19	chr9:108295600-108319800	Weak transcription	Aorta	Aorta
20	chr9:108296400-108316200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr9:108297200-108311800	Weak transcription	Fetal Muscle Leg	muscle
22	chr9:108297600-108309200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr9:108297600-108311600	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr9:108297600-108319800	Weak transcription	NHLF	lung
25	chr9:108297800-108319200	Weak transcription	Dnd41	blood
26	chr9:108297800-108319800	Weak transcription	Adipose Nuclei	Adipose
27	chr9:108298000-108319800	Weak transcription	NHDF-Ad	bronchial
28	chr9:108298200-108308200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr9:108298200-108311400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr9:108298400-108308600	Weak transcription	HMEC	breast
31	chr9:108298400-108312200	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr9:108298600-108316000	Weak transcription	Fetal Brain Female	brain
33	chr9:108298800-108308200	Weak transcription	A549	lung
34	chr9:108298800-108311600	Weak transcription	NH-A	brain
35	chr9:108298800-108314000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr9:108298800-108314400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr9:108298800-108319800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr9:108299200-108308400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr9:108300200-108316200	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr9:108300400-108313200	Weak transcription	HSMMtube	muscle
41	chr9:108301000-108319800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr9:108301400-108319800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr9:108302200-108319800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr9:108303000-108311600	Weak transcription	HSMM	muscle
45	chr9:108304400-108314200	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr9:108304400-108319800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr9:108305000-108308400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr9:108305000-108319800	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr9:108305200-108308000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr9:108305600-108308400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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