Variant report

Variant	rs9427573
Chromosome Location	chr1:192995213-192995214
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:192995040..192997652-chr1:192998864..193001424,2	MCF-7	breast:
2	chr1:192777515..192779632-chr1:192993913..192995891,2	MCF-7	breast:
3	chr1:192993626..192995725-chr1:192998924..193000592,2	K562	blood:
4	chr1:192992147..192995725-chr1:192998536..193000592,4	K562	blood:
5	chr1:192993820..193002591-chr1:193021038..193030016,12	K562	blood:

Variant related genes	Relation type
ENSG00000116747	Chromatin interaction
ENSG00000116741	Chromatin interaction
ENSG00000238754	Chromatin interaction
ENSG00000116750	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs16835200	1.00[AMR][1000 genomes]
rs472512	1.00[AMR][1000 genomes]
rs9427571	1.00[AMR][1000 genomes]
rs9427835	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9427836	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9427837	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv999499	chr1:192909529-192998421	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv535252	chr1:192909529-192998421	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv998429	chr1:192961698-193050515	Strong transcription Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv1002094	chr1:192968080-193084045	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv3966	chr1:192976457-193004886	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Cannabis dependence	21668797	GWAS catalog

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192963800-192996200	Weak transcription	Fetal Lung	lung
2	chr1:192963800-193012400	Weak transcription	NHEK	skin
3	chr1:192963800-193019600	Weak transcription	Ovary	ovary
4	chr1:192968000-193009400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr1:192968000-193012400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:192968000-193019400	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr1:192977600-193005200	Weak transcription	A549	lung
8	chr1:192979200-193025600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr1:192981400-193026200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr1:192982400-192996400	Weak transcription	Fetal Intestine Small	intestine
11	chr1:192982600-192995800	Weak transcription	Fetal Intestine Large	intestine
12	chr1:192982600-193002400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:192983000-193017800	Weak transcription	HSMMtube	muscle
14	chr1:192983200-192995400	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr1:192983200-192996400	Weak transcription	Fetal Stomach	stomach
16	chr1:192983200-193000000	Weak transcription	Right Ventricle	heart
17	chr1:192983200-193012800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:192983200-193018000	Weak transcription	Pancreas	Pancrea
19	chr1:192983200-193023600	Weak transcription	Psoas Muscle	Psoas
20	chr1:192983200-193027800	Weak transcription	Aorta	Aorta
21	chr1:192983800-192995400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr1:192984000-192996200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr1:192984000-192997600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr1:192984000-192998200	Weak transcription	NHDF-Ad	bronchial
25	chr1:192984200-193026600	Weak transcription	NHLF	lung
26	chr1:192984400-193026400	Weak transcription	HUVEC	blood vessel
27	chr1:192984800-193025800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr1:192986200-193012000	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr1:192987000-193009200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr1:192987400-193026200	Weak transcription	Fetal Kidney	kidney
31	chr1:192988600-192997800	Weak transcription	Rectal Smooth Muscle	rectum
32	chr1:192988600-193008400	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr1:192988800-192997200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr1:192988800-192997400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:192988800-193006000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr1:192988800-193012600	Weak transcription	Colon Smooth Muscle	Colon
37	chr1:192989000-192998800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:192989200-192996600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr1:192989400-192997400	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr1:192989800-192998400	Weak transcription	Brain Cingulate Gyrus	brain
41	chr1:192989800-193012600	Weak transcription	Spleen	Spleen
42	chr1:192990000-192997200	Strong transcription	Fetal Thymus	thymus
43	chr1:192990400-192998600	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr1:192990400-192998800	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr1:192990400-192998800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr1:192990600-192999600	Strong transcription	Dnd41	blood
47	chr1:192990800-193012800	Weak transcription	Fetal Brain Female	brain
48	chr1:192991200-192996600	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr1:192991200-192997200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr1:192991200-193014400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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