Variant report

Variant	rs818682
Chromosome Location	chr9:116157196-116157197
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:116127846..116129499-chr9:116156115..116158388,2	K562	blood:
2	chr9:116151263..116154918-chr9:116155923..116160670,6	K562	blood:
3	chr9:116156868..116159133-chr9:116160303..116163490,3	K562	blood:
4	chr9:116156284..116160950-chr9:116161266..116165857,7	MCF-7	breast:
5	chr9:116156326..116158367-chr9:116163400..116165119,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000148218	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs818684	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs818685	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs818686	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs818687	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs818689	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs818690	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][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	nsv530949	chr9:115821128-116487796	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv1042663	chr9:115920158-116167140	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv893744	chr9:115934852-116170227	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv825053	chr9:116150987-116158992	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116127800-116160400	Weak transcription	Fetal Heart	heart
2	chr9:116139800-116159000	Weak transcription	HSMM	muscle
3	chr9:116139800-116159600	Weak transcription	NH-A	brain
4	chr9:116139800-116160400	Weak transcription	NHDF-Ad	bronchial
5	chr9:116139800-116161400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr9:116139800-116161400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr9:116139800-116162000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr9:116140000-116160200	Weak transcription	HMEC	breast
9	chr9:116140000-116162000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr9:116143400-116160200	Weak transcription	Small Intestine	intestine
11	chr9:116144600-116162600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr9:116144800-116158600	Weak transcription	K562	blood
13	chr9:116146600-116162800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr9:116147800-116159800	Strong transcription	Fetal Stomach	stomach
15	chr9:116148000-116158000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr9:116148000-116159000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr9:116148000-116159400	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr9:116148200-116158000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr9:116148600-116159200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr9:116149000-116157600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr9:116149000-116157600	Strong transcription	Fetal Muscle Trunk	muscle
22	chr9:116149000-116158800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr9:116149200-116159600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr9:116149600-116158200	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr9:116149800-116158000	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr9:116149800-116160600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr9:116150200-116161200	Weak transcription	Fetal Brain Male	brain
28	chr9:116151000-116158800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr9:116151600-116160400	Weak transcription	Hela-S3	cervix
30	chr9:116151600-116162400	Weak transcription	Psoas Muscle	Psoas
31	chr9:116151800-116162600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr9:116152000-116157600	Weak transcription	Stomach Mucosa	stomach
33	chr9:116152000-116162200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr9:116152200-116157400	Strong transcription	Fetal Intestine Small	intestine
35	chr9:116152200-116157600	Strong transcription	Duodenum Mucosa	Duodenum
36	chr9:116153000-116159600	Weak transcription	Osteobl	bone
37	chr9:116153000-116161600	Weak transcription	GM12878-XiMat	blood
38	chr9:116153400-116162400	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr9:116153400-116162400	Weak transcription	A549	lung
40	chr9:116153600-116162600	Weak transcription	Fetal Kidney	kidney
41	chr9:116153800-116162800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr9:116154000-116161800	Weak transcription	Colon Smooth Muscle	Colon
43	chr9:116154000-116162200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr9:116154000-116162600	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr9:116154000-116163000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr9:116154000-116163000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr9:116154200-116158800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr9:116154600-116162200	Weak transcription	Spleen	Spleen
49	chr9:116154800-116160200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr9:116154800-116161400	Weak transcription	Fetal Brain Female	brain

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