Variant report

Variant	rs2189289
Chromosome Location	chr7:111826263-111826264
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:111825703..111828639-chr7:111855708..111857672,2	K562	blood:
2	chr7:111824683..111826311-chr7:111830229..111832204,2	K562	blood:

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10046468	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10224789	0.93[ASN][1000 genomes]
rs10227494	1.00[ASN][1000 genomes]
rs10232109	1.00[ASN][1000 genomes]
rs10232110	1.00[ASN][1000 genomes]
rs10237213	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10239663	1.00[ASN][1000 genomes]
rs10243005	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10246422	1.00[ASN][1000 genomes]
rs10248314	1.00[ASN][1000 genomes]
rs10251698	1.00[ASN][1000 genomes]
rs10253148	0.86[ASN][1000 genomes]
rs10261860	1.00[ASN][1000 genomes]
rs10266976	1.00[ASN][1000 genomes]
rs10269057	1.00[ASN][1000 genomes]
rs10274016	0.93[ASN][1000 genomes]
rs10275406	1.00[ASN][1000 genomes]
rs10276140	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10276369	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10276727	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10276853	1.00[ASN][1000 genomes]
rs10278420	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10281805	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10282279	1.00[ASN][1000 genomes]
rs1047550	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1047551	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12530699	1.00[ASN][1000 genomes]
rs12532522	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12534930	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12537934	1.00[ASN][1000 genomes]
rs17159353	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs17159566	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17159604	1.00[ASN][1000 genomes]
rs17491423	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2285732	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs28532417	1.00[ASN][1000 genomes]
rs41281060	0.93[ASN][1000 genomes]
rs56132236	1.00[ASN][1000 genomes]
rs56341778	1.00[ASN][1000 genomes]
rs57214357	1.00[ASN][1000 genomes]
rs60127009	1.00[ASN][1000 genomes]
rs60691495	1.00[ASN][1000 genomes]
rs61669542	1.00[ASN][1000 genomes]
rs67064485	1.00[ASN][1000 genomes]
rs67604537	1.00[ASN][1000 genomes]
rs6943448	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6944498	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6947063	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6949234	0.86[ASW][hapmap];1.00[CHB][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.85[YRI][hapmap];0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6950282	1.00[ASN][1000 genomes]
rs6964483	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6965896	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];1.00[ASN][1000 genomes]
rs6971023	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73192992	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73192993	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73193000	1.00[ASN][1000 genomes]
rs73195204	1.00[ASN][1000 genomes]
rs73195211	1.00[ASN][1000 genomes]
rs73195218	1.00[ASN][1000 genomes]
rs73195220	1.00[ASN][1000 genomes]
rs73195223	1.00[ASN][1000 genomes]
rs73195224	1.00[ASN][1000 genomes]
rs73195225	1.00[ASN][1000 genomes]
rs73197338	1.00[ASN][1000 genomes]
rs73197343	1.00[ASN][1000 genomes]
rs73197349	1.00[ASN][1000 genomes]
rs73197363	1.00[ASN][1000 genomes]
rs73197366	1.00[ASN][1000 genomes]
rs73197367	1.00[ASN][1000 genomes]
rs73197376	1.00[ASN][1000 genomes]
rs7786555	1.00[ASN][1000 genomes]
rs7790065	1.00[ASN][1000 genomes]
rs7806811	1.00[ASN][1000 genomes]
rs7810149	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[MKK][hapmap];0.92[YRI][hapmap];1.00[ASN][1000 genomes]
rs7810734	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7812188	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021527	chr7:111194596-111851619	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv539086	chr7:111194596-111851619	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv531435	chr7:111333900-111926292	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv491934	chr7:111333900-111975504	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111814000-111836000	Weak transcription	Fetal Brain Female	brain
2	chr7:111817400-111835800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:111820800-111831200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:111821600-111826400	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr7:111821600-111827600	Weak transcription	Fetal Brain Male	brain
6	chr7:111822000-111826400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
7	chr7:111822800-111826800	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr7:111822800-111827600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr7:111823200-111828000	Enhancers	Brain Cingulate Gyrus	brain
10	chr7:111823200-111828400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr7:111823200-111843200	Weak transcription	Stomach Smooth Muscle	stomach
12	chr7:111823400-111839000	Weak transcription	Fetal Lung	lung
13	chr7:111823800-111826400	Enhancers	Left Ventricle	heart
14	chr7:111823800-111826400	Enhancers	Right Ventricle	heart
15	chr7:111824000-111826400	Enhancers	Psoas Muscle	Psoas
16	chr7:111824000-111827600	Weak transcription	Ovary	ovary
17	chr7:111824600-111826600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr7:111825000-111827800	Enhancers	Brain Substantia Nigra	brain
19	chr7:111825000-111832600	Enhancers	Brain Hippocampus Middle	brain
20	chr7:111825200-111826800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr7:111825200-111826800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr7:111825400-111826800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr7:111825400-111826800	Enhancers	NHEK	skin
24	chr7:111825400-111829600	Enhancers	Brain Anterior Caudate	brain
25	chr7:111825800-111826400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr7:111825800-111827400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:111825800-111829200	Enhancers	Fetal Heart	heart
28	chr7:111826000-111830400	Weak transcription	HepG2	liver
29	chr7:111826000-111830800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr7:111826000-111839000	Weak transcription	NHLF	lung
31	chr7:111826000-111842200	Enhancers	HUVEC	blood vessel
32	chr7:111826200-111826400	Enhancers	Lung	lung
33	chr7:111826200-111827200	Weak transcription	Brain Angular Gyrus	brain
34	chr7:111826200-111828600	Weak transcription	Right Atrium	heart
35	chr7:111826200-111830200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr7:111826200-111830800	Weak transcription	Adipose Nuclei	Adipose
37	chr7:111826200-111831000	Weak transcription	Liver	Liver
38	chr7:111826200-111831200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr7:111826200-111831600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr7:111826200-111832400	Weak transcription	Colon Smooth Muscle	Colon
41	chr7:111826200-111832800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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