Variant report

Variant	rs2389229
Chromosome Location	chr13:95919862-95919863
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10508017	0.92[CEU][hapmap];0.82[GIH][hapmap];0.88[MEX][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4148421	1.00[YRI][hapmap]
rs9516552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9516553	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9524864	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.85[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.83[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9524873	0.92[CEU][hapmap];0.87[GIH][hapmap];0.88[MEX][hapmap];0.91[TSI][hapmap];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533659	chr13:95757713-96042149	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv832689	chr13:95759073-95921308	Genic enhancers ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2389229	ABCC4	cis	cerebellum	SCAN

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95880600-95922600	Weak transcription	Psoas Muscle	Psoas
2	chr13:95896200-95923400	Weak transcription	Ovary	ovary
3	chr13:95897000-95927400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr13:95900000-95920000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr13:95908000-95926600	Weak transcription	Gastric	stomach
6	chr13:95908800-95920000	Weak transcription	Pancreas	Pancrea
7	chr13:95910200-95927400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr13:95913600-95920000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr13:95913600-95932800	Weak transcription	Primary B cells from peripheral blood	blood
10	chr13:95916400-95922000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr13:95917000-95931400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr13:95917800-95920400	ZNF genes & repeats	GM12878-XiMat	blood
13	chr13:95918200-95920200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr13:95918200-95920200	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr13:95918400-95923400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr13:95918600-95920000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr13:95918600-95921000	Weak transcription	Stomach Smooth Muscle	stomach
18	chr13:95918800-95922800	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr13:95919000-95920000	Weak transcription	Fetal Intestine Large	intestine
20	chr13:95919000-95921200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr13:95919000-95922600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr13:95919000-95922800	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr13:95919000-95923200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr13:95919000-95925600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr13:95919000-95930000	Weak transcription	Esophagus	oesophagus
26	chr13:95919200-95922800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr13:95919400-95920200	Enhancers	NH-A	brain
28	chr13:95919400-95921200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr13:95919400-95921200	Enhancers	NHLF	lung
30	chr13:95919400-95923200	Enhancers	HSMM	muscle
31	chr13:95919400-95923600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr13:95919400-95924200	Enhancers	Fetal Stomach	stomach
33	chr13:95919600-95920000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr13:95919600-95920000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr13:95919600-95920000	Enhancers	Duodenum Mucosa	Duodenum
36	chr13:95919600-95920000	Enhancers	NHEK	skin
37	chr13:95919600-95920200	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr13:95919600-95920400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr13:95919600-95920600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr13:95919600-95920600	Enhancers	Fetal Muscle Leg	muscle
41	chr13:95919600-95920800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr13:95919600-95920800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr13:95919600-95920800	Enhancers	Fetal Lung	lung
44	chr13:95919600-95920800	Enhancers	HMEC	breast
45	chr13:95919600-95921200	Enhancers	Lung	lung
46	chr13:95919600-95922000	Enhancers	Colon Smooth Muscle	Colon
47	chr13:95919600-95923000	Genic enhancers	K562	blood
48	chr13:95919600-95923400	Enhancers	Osteobl	bone
49	chr13:95919600-95924800	Enhancers	HUVEC	blood vessel
50	chr13:95919800-95920000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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