Variant report

Variant	rs12294477
Chromosome Location	chr11:48087465-48087466
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:48077645..48080175-chr11:48086953..48089270,2	MCF-7	breast:
2	chr11:48087146..48090054-chr11:48094817..48096585,2	MCF-7	breast:
3	chr11:48086913..48088924-chr11:48093954..48095544,2	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11039489	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11039492	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11039506	1.00[AMR][1000 genomes]
rs11039507	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11039549	1.00[YRI][hapmap]
rs11039554	1.00[YRI][hapmap]
rs11822835	1.00[AMR][1000 genomes]
rs11825374	1.00[AMR][1000 genomes]
rs12272204	1.00[YRI][hapmap]
rs12272622	1.00[AMR][1000 genomes]
rs12273137	1.00[AFR][1000 genomes]
rs12275069	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs12275893	1.00[AMR][1000 genomes]
rs12279082	1.00[AMR][1000 genomes]
rs1228003	1.00[AMR][1000 genomes]
rs1228011	1.00[AMR][1000 genomes]
rs1228016	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs1228027	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs1228029	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs1228037	1.00[AMR][1000 genomes]
rs1228045	1.00[AMR][1000 genomes]
rs1228051	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs12281882	1.00[AFR][1000 genomes]
rs12282960	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs12284452	1.00[AFR][1000 genomes]
rs12288995	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12290640	1.00[YRI][hapmap]
rs12291155	0.88[AFR][1000 genomes]
rs12292463	1.00[YRI][hapmap]
rs12293503	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs12294199	0.88[AFR][1000 genomes]
rs12294321	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12295345	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs1681606	1.00[AMR][1000 genomes]
rs1681638	1.00[AMR][1000 genomes]
rs2697809	1.00[AMR][1000 genomes]
rs2930185	1.00[AMR][1000 genomes]
rs2930187	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2950889	1.00[AMR][1000 genomes]
rs4387319	1.00[AMR][1000 genomes]
rs7102191	1.00[AMR][1000 genomes]
rs7941419	1.00[AMR][1000 genomes]
rs900700	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs922959	1.00[YRI][hapmap];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052397	chr11:47675470-48594256	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv530620	chr11:47765455-48664555	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
3	nsv1036992	chr11:47794621-48666024	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv1036451	chr11:47902321-48616646	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv541037	chr11:47902321-48616646	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv1047490	chr11:47916708-48388686	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1044266	chr11:47929586-48276132	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv541038	chr11:47929586-48276132	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv870381	chr11:47989434-48142648	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
10	esv3396029	chr11:47993857-48241494	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
11	nsv897327	chr11:48004369-48911660	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
12	nsv869124	chr11:48014539-48783113	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
13	nsv1051805	chr11:48016488-48378048	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
14	nsv428573	chr11:48032457-48152344	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
15	nsv897328	chr11:48043053-48901553	Strong transcription Enhancers Genic enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
16	nsv897329	chr11:48052676-48319974	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
17	nsv1048554	chr11:48062861-48388686	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
18	nsv1038210	chr11:48068862-48388686	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
19	nsv1052076	chr11:48077864-48702549	ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
20	nsv1053528	chr11:48086151-48125731	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:48077400-48088600	Weak transcription	Right Atrium	heart
2	chr11:48077800-48088800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:48078200-48090600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr11:48078600-48088600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr11:48078800-48093000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr11:48079200-48088800	Weak transcription	Esophagus	oesophagus
7	chr11:48079200-48102800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:48080600-48100800	Weak transcription	Spleen	Spleen
9	chr11:48081200-48094600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr11:48081600-48097200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:48081800-48101600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr11:48082000-48096000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr11:48082200-48087600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr11:48082200-48088600	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr11:48083200-48088200	Weak transcription	Gastric	stomach
16	chr11:48083200-48088600	Weak transcription	Lung	lung
17	chr11:48083400-48087600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr11:48083400-48088200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr11:48083400-48088400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr11:48084000-48089200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr11:48084000-48090200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr11:48084200-48089800	Enhancers	Brain Hippocampus Middle	brain
23	chr11:48084800-48089200	Enhancers	Fetal Stomach	stomach
24	chr11:48085400-48087800	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr11:48085600-48089600	Weak transcription	Primary T cells from cord blood	blood
26	chr11:48085600-48091400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:48085800-48094600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr11:48086000-48087800	Weak transcription	Stomach Mucosa	stomach
29	chr11:48086000-48088200	Weak transcription	Primary B cells from peripheral blood	blood
30	chr11:48086000-48088400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr11:48086000-48088400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr11:48086000-48088400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr11:48086000-48088400	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr11:48086000-48088600	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr11:48086000-48088600	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr11:48086000-48088800	Weak transcription	Fetal Kidney	kidney
37	chr11:48086000-48088800	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr11:48086000-48088800	Weak transcription	K562	blood
39	chr11:48086000-48089800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr11:48086000-48094800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr11:48086000-48100800	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr11:48086000-48102000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr11:48086000-48109200	Weak transcription	Fetal Intestine Large	intestine
44	chr11:48086200-48087600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr11:48086200-48087600	Weak transcription	GM12878-XiMat	blood
46	chr11:48086200-48088200	Weak transcription	HUVEC	blood vessel
47	chr11:48086200-48088400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr11:48086200-48088400	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr11:48086200-48088600	Weak transcription	Adipose Nuclei	Adipose
50	chr11:48086200-48088600	Weak transcription	Brain Substantia Nigra	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links