Variant report

Variant	rs7040622
Chromosome Location	chr9:108280471-108280472
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12352998	1.00[AMR][1000 genomes]
rs7034475	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7875335	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053973	chr9:108199177-108300186	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv615115	chr9:108205262-108298183	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	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
4	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

No data

Chromatin state (count:78 , 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	chr9:108231800-108296800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr9:108242600-108300000	Weak transcription	Brain Anterior Caudate	brain
5	chr9:108258200-108282000	Weak transcription	Psoas Muscle	Psoas
6	chr9:108259600-108282000	Weak transcription	HSMMtube	muscle
7	chr9:108266600-108282000	Weak transcription	Hela-S3	cervix
8	chr9:108268200-108306000	Weak transcription	Brain Angular Gyrus	brain
9	chr9:108269200-108282000	Weak transcription	Pancreas	Pancrea
10	chr9:108269800-108282000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr9:108269800-108286200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr9:108272600-108282000	Weak transcription	Gastric	stomach
13	chr9:108272800-108282400	Weak transcription	NHLF	lung
14	chr9:108272800-108304600	Weak transcription	NHEK	skin
15	chr9:108273000-108282000	Weak transcription	HSMM	muscle
16	chr9:108273000-108282000	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr9:108273000-108282200	Weak transcription	NH-A	brain
18	chr9:108273000-108282200	Weak transcription	NHDF-Ad	bronchial
19	chr9:108274400-108299800	Weak transcription	Fetal Lung	lung
20	chr9:108275200-108282000	Weak transcription	Esophagus	oesophagus
21	chr9:108276000-108282000	Weak transcription	Osteobl	bone
22	chr9:108276200-108309200	Weak transcription	Lung	lung
23	chr9:108276400-108282000	Weak transcription	Spleen	Spleen
24	chr9:108277600-108282000	Weak transcription	Dnd41	blood
25	chr9:108277600-108282200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr9:108278000-108281200	Weak transcription	Aorta	Aorta
27	chr9:108278000-108282000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr9:108278000-108282000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr9:108278000-108282000	Weak transcription	Left Ventricle	heart
30	chr9:108278000-108282000	Weak transcription	HepG2	liver
31	chr9:108278000-108282600	Weak transcription	Rectal Smooth Muscle	rectum
32	chr9:108278000-108292800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr9:108278200-108284000	Weak transcription	Adipose Nuclei	Adipose
34	chr9:108278400-108282000	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr9:108278400-108282000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr9:108278600-108282000	Weak transcription	HMEC	breast
37	chr9:108278800-108282000	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr9:108278800-108282000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr9:108278800-108282000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr9:108278800-108282000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr9:108278800-108282000	Weak transcription	Ovary	ovary
42	chr9:108278800-108282200	Weak transcription	Stomach Smooth Muscle	stomach
43	chr9:108278800-108286600	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr9:108278800-108296600	Weak transcription	A549	lung
45	chr9:108278800-108297000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr9:108278800-108305800	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr9:108279000-108282000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr9:108279000-108282000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr9:108279000-108282000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr9:108279000-108282000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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