Variant report

Variant	rs12284575
Chromosome Location	chr11:73037422-73037423
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:73035604..73038970-chr11:73047692..73050704,4	K562	blood:
2	chr11:73036618..73038343-chr11:73047458..73049963,2	MCF-7	breast:
3	chr11:73035604..73038970-chr11:73047692..73050704,3	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12279235	0.81[AFR][1000 genomes]
rs12280876	0.94[AFR][1000 genomes]
rs12284174	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12290082	0.87[AFR][1000 genomes]
rs12291164	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12293779	0.87[AFR][1000 genomes]
rs1938779	0.85[AFR][1000 genomes]
rs55664562	0.89[AFR][1000 genomes]
rs55851019	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56184513	0.89[AFR][1000 genomes]
rs56665358	0.89[AFR][1000 genomes]
rs56775065	0.87[AFR][1000 genomes]
rs58053874	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73542448	0.87[AFR][1000 genomes]
rs73542460	0.86[AFR][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	nsv832208	chr11:72876184-73091003	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	esv1821041	chr11:72937162-73113080	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv520665	chr11:72999221-73061856	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv825993	chr11:73029209-73091929	Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73025800-73038400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
2	chr11:73026600-73039600	Genic enhancers	Fetal Stomach	stomach
3	chr11:73028400-73039000	Enhancers	Rectal Smooth Muscle	rectum
4	chr11:73030800-73039000	Enhancers	Fetal Lung	lung
5	chr11:73030800-73040000	Enhancers	Right Atrium	heart
6	chr11:73031800-73038800	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr11:73031800-73042200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:73032400-73038000	Weak transcription	NHEK	skin
9	chr11:73032600-73039000	Enhancers	Brain Substantia Nigra	brain
10	chr11:73033200-73045400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:73033200-73045600	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr11:73033800-73040400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr11:73034200-73039400	Genic enhancers	Fetal Muscle Leg	muscle
14	chr11:73034400-73037800	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr11:73034800-73037800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr11:73035000-73038000	Weak transcription	Pancreas	Pancrea
17	chr11:73035000-73038800	Enhancers	Aorta	Aorta
18	chr11:73035000-73039800	Enhancers	Colon Smooth Muscle	Colon
19	chr11:73035000-73040800	Weak transcription	Small Intestine	intestine
20	chr11:73035000-73041600	Enhancers	HepG2	liver
21	chr11:73035200-73038200	Weak transcription	Hela-S3	cervix
22	chr11:73035200-73045800	Weak transcription	Fetal Brain Male	brain
23	chr11:73035400-73039200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr11:73035400-73039200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr11:73035400-73039400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr11:73035400-73040000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr11:73035400-73040000	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr11:73035400-73041600	Weak transcription	Brain Germinal Matrix	brain
29	chr11:73035600-73037800	Weak transcription	HMEC	breast
30	chr11:73035600-73039200	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr11:73035600-73041800	Weak transcription	Gastric	stomach
32	chr11:73035800-73038000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr11:73035800-73038400	Weak transcription	HUVEC	blood vessel
34	chr11:73036000-73037800	Weak transcription	Brain Anterior Caudate	brain
35	chr11:73036000-73041600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr11:73036200-73037800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr11:73036200-73038000	Weak transcription	Lung	lung
38	chr11:73036200-73039200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr11:73036400-73038200	Weak transcription	A549	lung
40	chr11:73036400-73040000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr11:73036400-73040000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr11:73036400-73040000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr11:73036600-73038000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:73036600-73038000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr11:73036600-73038200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr11:73036600-73038400	Weak transcription	Fetal Kidney	kidney
47	chr11:73036600-73039800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr11:73036600-73040000	Genic enhancers	Fetal Muscle Trunk	muscle
49	chr11:73036600-73041400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr11:73036600-73041600	Weak transcription	Rectal Mucosa Donor 29	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links