Variant report

Variant	rs2288668
Chromosome Location	chr11:34904509-34904510
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:34902171..34905372-chr11:34909717..34912345,3	K562	blood:
2	chr11:34899153..34900913-chr11:34902618..34905230,2	K562	blood:

Variant related genes	Relation type
ENSG00000149089	Chromatin interaction

Extended variants
information (count: 135 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:133)

rs_ID	r²[population]
rs10768103	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10836322	0.85[ASN][1000 genomes]
rs10836323	0.86[ASN][1000 genomes]
rs11032916	0.92[ASN][1000 genomes]
rs1117446	0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12799433	0.80[ASN][1000 genomes]
rs1326940	0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1326941	0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1326942	0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1326943	0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1430855	0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1430856	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1544079	0.89[CHB][hapmap];0.86[JPT][hapmap]
rs1571133	0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1571134	0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1571135	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1977420	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1977421	0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1998602	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1998603	0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1998604	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1998912	0.89[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2016821	0.88[ASN][1000 genomes]
rs2025776	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2025777	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2031687	0.85[ASN][1000 genomes]
rs2116084	0.92[ASN][1000 genomes]
rs2217478	0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2281809	0.86[ASN][1000 genomes]
rs2288667	0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2303957	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2303958	0.92[ASN][1000 genomes]
rs2303959	0.84[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2732557	0.86[ASN][1000 genomes]
rs2732558	0.86[ASN][1000 genomes]
rs2761819	0.85[ASN][1000 genomes]
rs2761821	0.86[ASN][1000 genomes]
rs2761822	0.86[ASN][1000 genomes]
rs2762956	0.89[CHB][hapmap];0.86[JPT][hapmap]
rs2762958	0.86[ASN][1000 genomes]
rs2762960	0.86[ASN][1000 genomes]
rs2915181	0.86[ASN][1000 genomes]
rs2915190	0.84[ASN][1000 genomes]
rs2915193	0.89[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2915200	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2915204	0.88[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2915205	0.89[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2915206	0.83[ASN][1000 genomes]
rs2915211	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2915212	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2915215	0.94[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs2915216	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2915219	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2915220	0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2915221	0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2915222	0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2915223	0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2915224	0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2915227	0.86[ASN][1000 genomes]
rs2915234	0.92[ASN][1000 genomes]
rs2941047	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2941048	0.92[ASN][1000 genomes]
rs2941049	0.92[ASN][1000 genomes]
rs2956081	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2956082	0.92[ASN][1000 genomes]
rs2956083	0.92[ASN][1000 genomes]
rs2956087	0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2956088	0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2956089	0.92[ASN][1000 genomes]
rs2956090	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2956091	0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2956092	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2956093	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2956094	0.92[ASN][1000 genomes]
rs2956096	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2956105	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2956106	0.89[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2956107	0.89[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2956108	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2956110	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2956111	0.88[ASN][1000 genomes]
rs2956113	0.88[ASN][1000 genomes]
rs2956114	0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2956115	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2956117	0.88[ASN][1000 genomes]
rs2956121	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2956123	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2985381	0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2985383	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2985384	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2985386	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2985387	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2985388	0.92[ASN][1000 genomes]
rs2985389	0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2985390	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2985391	0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2985392	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2985393	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2985394	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2985395	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2985396	0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2985397	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2985398	0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2985399	0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2985400	0.92[ASN][1000 genomes]
rs2985401	0.86[ASN][1000 genomes]
rs2985403	0.89[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2985404	0.85[ASN][1000 genomes]
rs2985405	0.88[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2986404	0.84[ASN][1000 genomes]
rs2986409	0.85[ASN][1000 genomes]
rs2986410	0.89[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2986414	0.88[ASN][1000 genomes]
rs2986416	0.88[ASN][1000 genomes]
rs2986418	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2986419	0.90[ASN][1000 genomes]
rs2986420	0.92[ASN][1000 genomes]
rs2986422	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2986423	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2986424	0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2986425	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2986426	0.92[ASN][1000 genomes]
rs2986427	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2986428	0.92[ASN][1000 genomes]
rs2986429	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs504034	0.89[CHB][hapmap];0.86[JPT][hapmap]
rs589626	0.86[ASN][1000 genomes]
rs614668	0.94[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs746124	0.94[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs891546	0.89[ASN][1000 genomes]
rs9326	0.89[CHB][hapmap];0.85[JPT][hapmap]
rs967505	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs967506	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[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	nsv832119	chr11:34815528-35009370	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1045837	chr11:34893992-35395190	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2288668	APIP	cis	Lymphoblastoid	GTEx
rs2288668	MMRP19	cis	multi-tissue	Pritchard
rs2288668	APIP	cis	Skin Sun Exposed Lower leg	GTEx
rs2288668	APIP	cis	multi-tissue	Pritchard

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34859000-34909400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr11:34877600-34906400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:34882000-34919800	Weak transcription	Left Ventricle	heart
4	chr11:34888000-34907600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr11:34891200-34907000	Weak transcription	Thymus	Thymus
6	chr11:34891200-34919200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr11:34891400-34907000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr11:34891600-34906400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr11:34892000-34904600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr11:34892600-34913000	Weak transcription	Brain Anterior Caudate	brain
11	chr11:34893000-34921400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr11:34894600-34909600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr11:34895000-34912000	Weak transcription	Brain Angular Gyrus	brain
14	chr11:34895000-34921200	Weak transcription	Right Ventricle	heart
15	chr11:34895400-34912000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr11:34895800-34907000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr11:34896000-34908200	Weak transcription	Liver	Liver
18	chr11:34896000-34912200	Weak transcription	K562	blood
19	chr11:34896200-34909800	Weak transcription	Pancreas	Pancrea
20	chr11:34896600-34907200	Weak transcription	Esophagus	oesophagus
21	chr11:34896600-34911600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr11:34897000-34913000	Weak transcription	Lung	lung
23	chr11:34897000-34919200	Weak transcription	Fetal Stomach	stomach
24	chr11:34897200-34907200	Weak transcription	Aorta	Aorta
25	chr11:34897200-34907400	Weak transcription	Stomach Smooth Muscle	stomach
26	chr11:34897600-34919200	Weak transcription	Fetal Heart	heart
27	chr11:34898200-34926800	Weak transcription	HSMMtube	muscle
28	chr11:34898400-34908200	Weak transcription	Psoas Muscle	Psoas
29	chr11:34898400-34912800	Weak transcription	Brain Hippocampus Middle	brain
30	chr11:34898600-34908400	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr11:34899000-34917400	Weak transcription	HSMM	muscle
32	chr11:34899400-34905400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr11:34899600-34907800	Weak transcription	Small Intestine	intestine
34	chr11:34900000-34911600	Weak transcription	A549	lung
35	chr11:34900000-34918200	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr11:34900200-34917200	Weak transcription	HUVEC	blood vessel
37	chr11:34900200-34921000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr11:34900600-34909800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr11:34901000-34911200	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr11:34901200-34907200	Weak transcription	Fetal Muscle Trunk	muscle
41	chr11:34901200-34910600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr11:34901400-34905600	Strong transcription	Fetal Thymus	thymus
43	chr11:34901400-34906000	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr11:34901400-34907000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr11:34901400-34917400	Weak transcription	Fetal Kidney	kidney
46	chr11:34901400-34920800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr11:34901600-34905200	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr11:34901600-34907200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr11:34901600-34910200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr11:34901600-34918200	Weak transcription	Primary neutrophils fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links