Variant report

Variant	rs531350
Chromosome Location	chr11:102300876-102300877
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	chr11:102299719..102302778-chr11:102322207..102324583,3	K562	blood:
2	chr11:102299375..102302778-chr11:102320707..102324583,5	K562	blood:

Variant related genes	Relation type
ENSG00000255337	Chromatin interaction
ENSG00000152558	Chromatin interaction

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10219215	1.00[CHB][hapmap]
rs1058606	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10895292	1.00[ASN][1000 genomes]
rs10895296	1.00[CHB][hapmap]
rs11225222	1.00[ASN][1000 genomes]
rs11225229	1.00[ASN][1000 genomes]
rs11225235	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11225236	1.00[ASN][1000 genomes]
rs11225237	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11225251	1.00[ASN][1000 genomes]
rs11501342	1.00[ASN][1000 genomes]
rs11501343	1.00[ASN][1000 genomes]
rs11501344	1.00[ASN][1000 genomes]
rs11547915	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11547916	1.00[ASN][1000 genomes]
rs11601671	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11603677	1.00[ASN][1000 genomes]
rs11604008	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11604189	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11604271	1.00[ASN][1000 genomes]
rs11605010	1.00[ASN][1000 genomes]
rs11605066	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11605087	1.00[ASN][1000 genomes]
rs11605133	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11605573	1.00[ASN][1000 genomes]
rs11605915	1.00[ASN][1000 genomes]
rs11607214	1.00[ASN][1000 genomes]
rs11607657	1.00[ASN][1000 genomes]
rs11607908	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12269847	1.00[ASN][1000 genomes]
rs12270109	1.00[ASN][1000 genomes]
rs12271457	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12273698	1.00[ASN][1000 genomes]
rs12274405	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12275185	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12275349	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12277594	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12277853	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12279056	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12282486	1.00[ASN][1000 genomes]
rs12283885	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12290033	1.00[ASN][1000 genomes]
rs12291114	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12293094	1.00[CHB][hapmap]
rs12293834	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1275850	1.00[ASN][1000 genomes]
rs12792649	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1290044	1.00[ASN][1000 genomes]
rs1318199	1.00[ASN][1000 genomes]
rs13377311	1.00[ASN][1000 genomes]
rs1574410	1.00[ASN][1000 genomes]
rs17349689	1.00[ASN][1000 genomes]
rs17350205	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17350590	1.00[CHB][hapmap]
rs1943781	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2436036	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.86[EUR][1000 genomes]
rs2509683	1.00[MEX][hapmap]
rs2510491	1.00[ASN][1000 genomes]
rs2567752	0.83[CEU][hapmap];0.92[GIH][hapmap];0.84[TSI][hapmap];0.88[EUR][1000 genomes]
rs34104132	1.00[ASN][1000 genomes]
rs34296997	1.00[ASN][1000 genomes]
rs34740624	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs35457182	1.00[ASN][1000 genomes]
rs35569122	1.00[ASN][1000 genomes]
rs35623064	1.00[ASN][1000 genomes]
rs35972941	1.00[ASN][1000 genomes]
rs484068	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs485020	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs523356	1.00[MEX][hapmap]
rs525305	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs549513	0.85[CEU][hapmap];0.92[GIH][hapmap];0.88[TSI][hapmap];0.90[EUR][1000 genomes]
rs57346058	1.00[ASN][1000 genomes]
rs57562739	1.00[ASN][1000 genomes]
rs577850	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58250524	1.00[ASN][1000 genomes]
rs589068	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs589533	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs61123589	1.00[ASN][1000 genomes]
rs61334418	1.00[ASN][1000 genomes]
rs61895370	1.00[ASN][1000 genomes]
rs61895375	1.00[ASN][1000 genomes]
rs61895376	1.00[ASN][1000 genomes]
rs637708	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs660908	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[TSI][hapmap];0.91[EUR][1000 genomes]
rs670314	1.00[MEX][hapmap]
rs670334	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7104841	1.00[ASN][1000 genomes]
rs7113906	1.00[ASN][1000 genomes]
rs7114048	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3514195	chr11:102118479-102348362	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv3514197	chr11:102118479-102348362	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv1035567	chr11:102264516-102431607	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv898334	chr11:102272884-102353192	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102273000-102302400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr11:102282200-102303400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:102284400-102302200	Weak transcription	Aorta	Aorta
4	chr11:102284600-102308600	Weak transcription	Lung	lung
5	chr11:102290600-102301000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr11:102291000-102301600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:102291000-102303200	Weak transcription	HMEC	breast
8	chr11:102291200-102302400	Weak transcription	NHEK	skin
9	chr11:102291600-102301200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr11:102291600-102302600	Weak transcription	A549	lung
11	chr11:102291600-102307800	Weak transcription	K562	blood
12	chr11:102293000-102316000	Weak transcription	HUVEC	blood vessel
13	chr11:102293200-102302200	Weak transcription	Fetal Intestine Large	intestine
14	chr11:102293200-102303200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr11:102294200-102303400	Weak transcription	Fetal Stomach	stomach
16	chr11:102294400-102303400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr11:102295400-102301000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr11:102295400-102307600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr11:102296000-102302600	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr11:102296400-102301800	Enhancers	Stomach Mucosa	stomach
21	chr11:102296600-102301000	Weak transcription	Right Ventricle	heart
22	chr11:102297000-102301200	Weak transcription	Fetal Heart	heart
23	chr11:102297800-102303800	Genic enhancers	HepG2	liver
24	chr11:102298200-102302200	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr11:102298200-102316000	Weak transcription	Fetal Lung	lung
26	chr11:102298400-102301000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr11:102298400-102302200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr11:102298400-102303400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr11:102298400-102303600	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr11:102299000-102301400	Genic enhancers	Primary T cells fromperipheralblood	blood
31	chr11:102299000-102301800	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr11:102299200-102302400	Genic enhancers	Primary T cells from cord blood	blood
33	chr11:102299400-102301000	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr11:102299400-102301600	Enhancers	Brain Angular Gyrus	brain
35	chr11:102299400-102301800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr11:102299400-102301800	Enhancers	Brain Cingulate Gyrus	brain
37	chr11:102299400-102302400	Enhancers	Brain Anterior Caudate	brain
38	chr11:102299400-102302600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr11:102299600-102301400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr11:102299600-102301400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr11:102299600-102301400	Enhancers	NHLF	lung
42	chr11:102299600-102301600	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr11:102299600-102301600	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr11:102299600-102301600	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr11:102299600-102301800	Enhancers	Brain Substantia Nigra	brain
46	chr11:102299600-102301800	Enhancers	Colon Smooth Muscle	Colon
47	chr11:102299600-102301800	Enhancers	Small Intestine	intestine
48	chr11:102299600-102301800	Enhancers	HSMMtube	muscle
49	chr11:102299600-102302000	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr11:102299600-102302200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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