Variant report

Variant	rs2389225
Chromosome Location	chr13:95910176-95910177
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	chr13:95906835..95908604-chr13:95908820..95911598,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10508020	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11568645	1.00[MEX][hapmap]
rs11842634	0.83[EUR][1000 genomes]
rs11843001	0.83[EUR][1000 genomes]
rs1317503	1.00[ASN][1000 genomes]
rs16950847	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16952754	0.85[ASN][1000 genomes]
rs1729762	1.00[MEX][hapmap]
rs4148427	0.84[JPT][hapmap];0.90[ASN][1000 genomes]
rs4148428	0.90[ASN][1000 genomes]
rs4148430	0.90[JPT][hapmap]
rs4148432	0.90[JPT][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs4148433	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4148439	0.90[JPT][hapmap]
rs4148456	0.89[JPT][hapmap]
rs61972725	0.85[ASN][1000 genomes]
rs7317603	0.83[EUR][1000 genomes]
rs7318952	0.90[JPT][hapmap];0.83[TSI][hapmap]
rs7319126	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7320375	0.90[JPT][hapmap];1.00[TSI][hapmap]
rs7321807	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7321885	0.98[ASN][1000 genomes]
rs7324737	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7325256	0.90[JPT][hapmap];1.00[TSI][hapmap]
rs7326976	1.00[MEX][hapmap]
rs7328332	0.90[JPT][hapmap];0.83[TSI][hapmap]
rs7329490	0.90[JPT][hapmap];0.83[TSI][hapmap]
rs7336051	0.84[CHD][hapmap];0.83[GIH][hapmap];0.89[JPT][hapmap];0.83[TSI][hapmap];0.88[ASN][1000 genomes]
rs7337228	0.84[CHD][hapmap];0.83[GIH][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs7986087	0.90[JPT][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs9590227	0.84[CHD][hapmap];0.83[GIH][hapmap];0.89[JPT][hapmap];0.83[TSI][hapmap];0.92[ASN][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
rs2389225	ABCC4	cis	lymphoblastoid	seeQTL

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95879200-95914000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr13:95880600-95922600	Weak transcription	Psoas Muscle	Psoas
3	chr13:95887000-95918800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr13:95896200-95923400	Weak transcription	Ovary	ovary
5	chr13:95897000-95927400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr13:95898800-95919600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr13:95899000-95919600	Weak transcription	Fetal Lung	lung
8	chr13:95899800-95919600	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr13:95900000-95910200	Weak transcription	Fetal Intestine Small	intestine
10	chr13:95900000-95918600	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr13:95900000-95918800	Weak transcription	Lung	lung
12	chr13:95900000-95919000	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr13:95900000-95920000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr13:95904000-95910400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr13:95904000-95917800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr13:95906200-95910600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr13:95907000-95917800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr13:95907400-95910600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr13:95908000-95916600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr13:95908000-95926600	Weak transcription	Gastric	stomach
21	chr13:95908200-95910600	Weak transcription	Small Intestine	intestine
22	chr13:95908200-95910600	Weak transcription	K562	blood
23	chr13:95908800-95910200	Weak transcription	GM12878-XiMat	blood
24	chr13:95908800-95917800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr13:95908800-95917800	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr13:95908800-95917800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr13:95908800-95918000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr13:95908800-95919400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr13:95908800-95919400	Weak transcription	NH-A	brain
30	chr13:95908800-95919600	Weak transcription	Colon Smooth Muscle	Colon
31	chr13:95908800-95919600	Weak transcription	HSMMtube	muscle
32	chr13:95908800-95920000	Weak transcription	Pancreas	Pancrea
33	chr13:95909000-95910200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr13:95909000-95910200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr13:95909000-95910600	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr13:95909000-95917800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr13:95909000-95919400	Weak transcription	HSMM	muscle
38	chr13:95909200-95912600	Weak transcription	HUVEC	blood vessel
39	chr13:95909200-95918200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr13:95909200-95919600	Weak transcription	NHEK	skin
41	chr13:95909400-95910600	Genic enhancers	A549	lung
42	chr13:95909400-95914600	Enhancers	HepG2	liver
43	chr13:95909400-95916200	Weak transcription	NHLF	lung
44	chr13:95909800-95912800	Enhancers	Duodenum Mucosa	Duodenum
45	chr13:95910000-95910200	Enhancers	NHDF-Ad	bronchial
46	chr13:95910000-95914600	Enhancers	Fetal Intestine Large	intestine

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