Variant report

Variant	rs2231963
Chromosome Location	chr11:4625020-4625021
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:4623447..4627456-chr11:4629484..4632827,3	K562	blood:
2	chr11:4622993..4626979-chr11:4627107..4631153,5	K562	blood:
3	chr11:4623027..4625969-chr11:4627672..4630327,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167333	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1001697	0.89[ASN][1000 genomes]
rs1009240	0.85[CEU][hapmap];0.93[GIH][hapmap];0.80[TSI][hapmap]
rs10836325	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs11032968	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs11600417	0.83[EUR][1000 genomes]
rs17314159	1.00[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2231970	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3750992	1.00[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];0.80[JPT][hapmap];0.93[ASN][1000 genomes]
rs3861785	0.81[EUR][1000 genomes]
rs3986378	0.82[EUR][1000 genomes]
rs4243952	1.00[CHB][hapmap];0.93[CHD][hapmap];0.88[GIH][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs4910511	0.81[CHB][hapmap];0.83[GIH][hapmap];0.81[JPT][hapmap]
rs4910512	0.83[ASW][hapmap];0.81[CEU][hapmap];0.90[CHB][hapmap];0.93[CHD][hapmap];0.98[GIH][hapmap];0.90[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4910633	0.81[CHB][hapmap];0.83[GIH][hapmap];0.81[JPT][hapmap]
rs4910635	0.81[CHB][hapmap];0.93[GIH][hapmap];0.81[JPT][hapmap];0.82[EUR][1000 genomes]
rs4910638	0.92[ASN][1000 genomes]
rs6578501	0.94[LWK][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes]
rs7943486	0.94[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7950390	0.86[YRI][hapmap]
rs931811	0.85[CEU][hapmap];0.87[CHB][hapmap];0.86[CHD][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];0.82[TSI][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs984496	0.85[CEU][hapmap];0.81[CHB][hapmap];0.95[GIH][hapmap];0.81[JPT][hapmap];0.80[TSI][hapmap];0.82[EUR][1000 genomes]
rs999818	0.85[CEU][hapmap];0.87[CHB][hapmap];0.91[GIH][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.85[TSI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043803	chr11:4388448-4837042	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
2	nsv540916	chr11:4388448-4837042	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers 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	46 gene(s)	inside rSNPs	diseases
3	nsv1048224	chr11:4390227-4920324	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
4	nsv540917	chr11:4390227-4920324	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
5	nsv896911	chr11:4400801-4806872	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
6	nsv1052736	chr11:4519302-4635855	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	nsv540921	chr11:4519302-4635855	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
8	nsv1047344	chr11:4524493-4630740	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
9	nsv832055	chr11:4550894-4736340	Strong transcription Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv870335	chr11:4568743-4654458	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv1054705	chr11:4582150-4687238	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	esv3424302	chr11:4585155-4880050	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
13	nsv896914	chr11:4587940-4631352	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
14	nsv553173	chr11:4587940-4689742	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv1054801	chr11:4590126-4689520	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
16	nsv540923	chr11:4590126-4689520	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
17	nsv553174	chr11:4592718-4682376	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
18	nsv1041836	chr11:4594628-4685732	Enhancers Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
19	nsv540924	chr11:4594628-4685732	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
20	nsv1047741	chr11:4598125-4689520	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
21	nsv540925	chr11:4598125-4689520	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
22	nsv540926	chr11:4621196-4639254	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs2231963	ART5	cis	parietal	SCAN
rs2231963	DNHD1	cis	cerebellum	SCAN
rs2231963	C11orf21	cis	cerebellum	SCAN
rs2231963	H19	cis	parietal	SCAN
rs2231963	OR51F1	cis	parietal	SCAN
rs2231963	OR52K1	cis	cerebellum	SCAN
rs2231963	OR5E1P	cis	parietal	SCAN
rs2231963	SLC25A22	cis	parietal	SCAN

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4615200-4627400	Strong transcription	Primary T cells from cord blood	blood
2	chr11:4616200-4626800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr11:4618000-4626800	Strong transcription	Liver	Liver
4	chr11:4618000-4627000	Strong transcription	Rectal Mucosa Donor 29	rectum
5	chr11:4618000-4627200	Strong transcription	Primary B cells from cord blood	blood
6	chr11:4618000-4628000	Weak transcription	K562	blood
7	chr11:4618200-4625600	Weak transcription	HSMM	muscle
8	chr11:4618200-4626800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:4618400-4626600	Strong transcription	Primary B cells from peripheral blood	blood
10	chr11:4618400-4626600	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr11:4618400-4626800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr11:4618400-4626800	Strong transcription	Brain Inferior Temporal Lobe	brain
13	chr11:4618400-4627600	Weak transcription	Fetal Heart	heart
14	chr11:4618600-4626200	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr11:4618600-4626400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr11:4618600-4626600	Strong transcription	Aorta	Aorta
17	chr11:4618600-4626600	Strong transcription	Brain Anterior Caudate	brain
18	chr11:4618600-4626600	Strong transcription	Brain Hippocampus Middle	brain
19	chr11:4618600-4626600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr11:4618600-4626800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr11:4618600-4626800	Strong transcription	Brain Cingulate Gyrus	brain
22	chr11:4618600-4626800	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr11:4618600-4626800	Strong transcription	Fetal Muscle Trunk	muscle
24	chr11:4618600-4626800	Strong transcription	Fetal Stomach	stomach
25	chr11:4618600-4626800	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr11:4618600-4627000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr11:4618600-4627000	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr11:4618600-4627800	Strong transcription	Fetal Muscle Leg	muscle
29	chr11:4618600-4628400	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr11:4618800-4626400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr11:4618800-4626800	Strong transcription	Primary hematopoietic stem cells	blood
32	chr11:4618800-4627000	Strong transcription	Stomach Smooth Muscle	stomach
33	chr11:4619000-4626600	Strong transcription	Brain Angular Gyrus	brain
34	chr11:4619000-4626800	Strong transcription	Adipose Nuclei	Adipose
35	chr11:4619000-4626800	Strong transcription	Skeletal Muscle Female	skeletal muscle
36	chr11:4619200-4626600	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr11:4619200-4626800	Strong transcription	Placenta	Placenta
38	chr11:4619400-4626600	Strong transcription	Ovary	ovary
39	chr11:4619400-4626800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr11:4619400-4628800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr11:4619600-4626200	Strong transcription	Left Ventricle	heart
42	chr11:4619600-4626400	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr11:4619600-4626600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr11:4619600-4626800	Strong transcription	Skeletal Muscle Male	skeletal muscle
45	chr11:4619600-4626800	Strong transcription	Dnd41	blood
46	chr11:4619800-4625600	Strong transcription	Fetal Thymus	thymus
47	chr11:4619800-4626400	Strong transcription	Spleen	Spleen
48	chr11:4619800-4626600	Strong transcription	Fetal Lung	lung
49	chr11:4619800-4626800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr11:4619800-4626800	Strong transcription	Fetal Intestine Large	intestine

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