Variant report

Variant	rs6697326
Chromosome Location	chr1:184266571-184266572
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:184259867..184262376-chr1:184264911..184267175,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10442605	0.98[ASN][1000 genomes]
rs10737250	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10797951	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10797952	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10797953	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10911548	0.81[EUR][1000 genomes]
rs10911549	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10911550	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10911551	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10911553	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10911554	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10911555	0.91[CHB][hapmap];0.85[CHD][hapmap];0.84[TSI][hapmap]
rs1111088	0.97[ASN][1000 genomes]
rs11576933	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11579542	0.86[EUR][1000 genomes]
rs11585071	0.82[CHB][hapmap]
rs11802851	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12124041	0.81[EUR][1000 genomes]
rs12139721	0.99[ASN][1000 genomes]
rs1930290	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4306092	0.85[ASN][1000 genomes]
rs4428848	0.91[CHB][hapmap]
rs4651199	0.87[ASN][1000 genomes]
rs4651200	0.91[CHB][hapmap]
rs6424941	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6424942	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6424943	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6424944	0.99[ASN][1000 genomes]
rs6666447	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6684740	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6693421	0.81[EUR][1000 genomes]
rs6695243	0.99[ASN][1000 genomes]
rs6697577	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7522326	0.99[ASN][1000 genomes]
rs7522468	0.88[ASN][1000 genomes]
rs7530243	0.81[CEU][hapmap];1.00[CHB][hapmap];0.80[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7543622	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7554776	0.88[ASN][1000 genomes]
rs932993	0.87[CHB][hapmap];0.85[CHD][hapmap];0.84[TSI][hapmap]
rs963234	0.91[CHB][hapmap]
rs9787399	0.91[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6697326	IVNS1ABP	cis	cerebellum	SCAN
rs6697326	GLT25D2	cis	cerebellum	SCAN

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184258600-184267400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:184261600-184268000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:184264600-184269400	Enhancers	Fetal Brain Female	brain
4	chr1:184264800-184266800	Enhancers	Aorta	Aorta
5	chr1:184264800-184269600	Enhancers	Fetal Brain Male	brain
6	chr1:184264800-184269800	Enhancers	Fetal Muscle Leg	muscle
7	chr1:184265000-184267600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr1:184265000-184269200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr1:184265200-184266600	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr1:184265200-184267000	Enhancers	Dnd41	blood
11	chr1:184265200-184268200	Enhancers	Osteobl	bone
12	chr1:184265200-184268400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:184265200-184269000	Enhancers	Fetal Stomach	stomach
14	chr1:184265200-184269200	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr1:184265200-184270600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:184265200-184271800	Enhancers	NHLF	lung
17	chr1:184265400-184266600	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr1:184265400-184266800	Enhancers	Fetal Lung	lung
19	chr1:184265400-184267000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr1:184265400-184267000	Enhancers	Adipose Nuclei	Adipose
21	chr1:184265400-184267400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:184265400-184269400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr1:184265600-184266600	Enhancers	Gastric	stomach
24	chr1:184265600-184266800	Enhancers	HSMM	muscle
25	chr1:184265600-184267000	Enhancers	Colon Smooth Muscle	Colon
26	chr1:184265800-184266600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:184265800-184266600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr1:184265800-184266600	Enhancers	Psoas Muscle	Psoas
29	chr1:184266000-184266600	Enhancers	Left Ventricle	heart
30	chr1:184266000-184267800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:184266000-184268000	Weak transcription	NHEK	skin
32	chr1:184266000-184269200	Enhancers	Right Atrium	heart
33	chr1:184266000-184270400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr1:184266200-184266600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:184266200-184266600	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr1:184266200-184266600	Weak transcription	Rectal Smooth Muscle	rectum
37	chr1:184266200-184266600	Flanking Active TSS	NHDF-Ad	bronchial
38	chr1:184266200-184267000	Enhancers	Liver	Liver
39	chr1:184266200-184267000	Enhancers	HUVEC	blood vessel
40	chr1:184266200-184267000	Enhancers	NH-A	brain
41	chr1:184266200-184267400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr1:184266200-184267600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:184266200-184267600	Weak transcription	HSMMtube	muscle
44	chr1:184266200-184267800	Weak transcription	Brain Hippocampus Middle	brain
45	chr1:184266400-184266600	Enhancers	Fetal Heart	heart
46	chr1:184266400-184266600	Enhancers	Placenta	Placenta
47	chr1:184266400-184266600	Enhancers	Ovary	ovary
48	chr1:184266400-184266800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr1:184266400-184266800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:184266400-184267200	Enhancers	Stomach Smooth Muscle	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links