Variant report

Variant	rs12796784
Chromosome Location	chr11:4620328-4620329
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:4619771..4622013-chr11:4626774..4630457,4	MCF-7	breast:
2	chr11:4618307..4620413-chr11:4621041..4623976,4	K562	blood:
3	chr11:4619365..4621558-chr11:4626252..4629277,3	K562	blood:
4	chr11:4614691..4617476-chr11:4618507..4620828,3	K562	blood:
5	chr11:4620058..4622735-chr11:4626222..4629091,3	K562	blood:

Variant related genes	Relation type
ENSG00000167333	Chromatin interaction
ENSG00000232268	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11032896	1.00[CEU][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs11032906	1.00[CEU][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs11032924	1.00[CEU][hapmap]
rs12282661	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12291828	0.96[EUR][1000 genomes]
rs12796973	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1346833	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs16917170	0.86[YRI][hapmap]
rs2231969	1.00[CEU][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs2231975	1.00[CEU][hapmap];0.83[TSI][hapmap];0.96[EUR][1000 genomes]
rs2566254	1.00[CEU][hapmap];0.85[TSI][hapmap]
rs2566255	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs34071819	0.96[EUR][1000 genomes]
rs67261873	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7110394	1.00[MEX][hapmap]
rs7119130	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs7124305	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs73399628	0.81[AFR][1000 genomes]
rs73399633	0.81[AFR][1000 genomes]
rs7951178	1.00[MEX][hapmap]
rs905872	1.00[CEU][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 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

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4611600-4621400	Weak transcription	Stomach Mucosa	stomach
2	chr11:4612000-4622400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:4612400-4620800	Weak transcription	Brain Substantia Nigra	brain
4	chr11:4612400-4621400	Weak transcription	Small Intestine	intestine
5	chr11:4612600-4620800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr11:4612800-4621000	Weak transcription	A549	lung
7	chr11:4613600-4621000	Weak transcription	Fetal Kidney	kidney
8	chr11:4614600-4620600	Weak transcription	Lung	lung
9	chr11:4614600-4621200	Weak transcription	NHDF-Ad	bronchial
10	chr11:4614600-4622200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr11:4614800-4621400	Weak transcription	HMEC	breast
12	chr11:4615000-4621200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr11:4615200-4620800	Weak transcription	NHLF	lung
14	chr11:4615200-4621000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr11:4615200-4627400	Strong transcription	Primary T cells from cord blood	blood
16	chr11:4615800-4620600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr11:4616200-4626800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr11:4616400-4620800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr11:4617000-4620600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr11:4617000-4622600	Weak transcription	HUVEC	blood vessel
21	chr11:4617400-4620800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr11:4617400-4621200	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr11:4618000-4620600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr11:4618000-4626800	Strong transcription	Liver	Liver
25	chr11:4618000-4627000	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr11:4618000-4627200	Strong transcription	Primary B cells from cord blood	blood
27	chr11:4618000-4628000	Weak transcription	K562	blood
28	chr11:4618200-4625600	Weak transcription	HSMM	muscle
29	chr11:4618200-4626800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:4618400-4620600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr11:4618400-4620600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr11:4618400-4621000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr11:4618400-4622000	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr11:4618400-4626600	Strong transcription	Primary B cells from peripheral blood	blood
35	chr11:4618400-4626600	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr11:4618400-4626800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr11:4618400-4626800	Strong transcription	Brain Inferior Temporal Lobe	brain
38	chr11:4618400-4627600	Weak transcription	Fetal Heart	heart
39	chr11:4618600-4621600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr11:4618600-4625000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr11:4618600-4626200	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr11:4618600-4626400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr11:4618600-4626600	Strong transcription	Aorta	Aorta
44	chr11:4618600-4626600	Strong transcription	Brain Anterior Caudate	brain
45	chr11:4618600-4626600	Strong transcription	Brain Hippocampus Middle	brain
46	chr11:4618600-4626600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr11:4618600-4626800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr11:4618600-4626800	Strong transcription	Brain Cingulate Gyrus	brain
49	chr11:4618600-4626800	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr11:4618600-4626800	Strong transcription	Fetal Muscle Trunk	muscle

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