Variant report

Variant	rs12280627
Chromosome Location	chr11:77047679-77047680
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10466737	1.00[CEU][hapmap]
rs11237132	1.00[CEU][hapmap]
rs11237170	1.00[CEU][hapmap]
rs12273430	1.00[CEU][hapmap]
rs12292189	1.00[CEU][hapmap]
rs12294882	1.00[CEU][hapmap]
rs12295132	1.00[CEU][hapmap]
rs12295581	1.00[CEU][hapmap]
rs12361485	1.00[CEU][hapmap]
rs12364463	1.00[CEU][hapmap]
rs12366226	1.00[CEU][hapmap]
rs1377470	0.89[LWK][hapmap];0.80[YRI][hapmap]
rs2602488	0.81[YRI][hapmap]
rs4483609	1.00[CEU][hapmap]
rs7101380	1.00[CEU][hapmap]
rs7119661	1.00[CEU][hapmap]
rs7130372	1.00[CEU][hapmap]
rs7951232	1.00[CEU][hapmap]
rs7952049	1.00[CEU][hapmap]
rs9651765	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048360	chr11:76900813-77387933	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats 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 target site	24 gene(s)	inside rSNPs	diseases
2	nsv541089	chr11:76900813-77387933	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats 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	24 gene(s)	inside rSNPs	diseases
3	nsv1049603	chr11:76900813-77520411	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats 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 target site	29 gene(s)	inside rSNPs	diseases
4	nsv541090	chr11:76900813-77520411	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription 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	29 gene(s)	inside rSNPs	diseases
5	esv3424135	chr11:76961603-77277087	Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77028000-77068400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr11:77028200-77066000	Weak transcription	Fetal Kidney	kidney
3	chr11:77030600-77086800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr11:77030800-77054200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr11:77031600-77066400	Weak transcription	Gastric	stomach
6	chr11:77031600-77073800	Weak transcription	Spleen	Spleen
7	chr11:77031800-77070400	Weak transcription	Fetal Brain Male	brain
8	chr11:77032200-77066400	Weak transcription	Lung	lung
9	chr11:77033400-77067200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr11:77033400-77090400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr11:77033800-77059200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr11:77034400-77054600	Weak transcription	Pancreas	Pancrea
13	chr11:77034400-77059200	Weak transcription	Psoas Muscle	Psoas
14	chr11:77034400-77086200	Weak transcription	NHLF	lung
15	chr11:77034600-77051600	Weak transcription	Brain Anterior Caudate	brain
16	chr11:77034800-77063800	Weak transcription	Brain Substantia Nigra	brain
17	chr11:77034800-77064000	Weak transcription	Brain Hippocampus Middle	brain
18	chr11:77037600-77051600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr11:77041800-77056600	Weak transcription	HSMMtube	muscle
20	chr11:77042600-77047800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr11:77042600-77048600	Strong transcription	Fetal Muscle Leg	muscle
22	chr11:77042600-77049200	Strong transcription	Duodenum Mucosa	Duodenum
23	chr11:77042600-77053600	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr11:77042800-77048600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr11:77042800-77080800	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr11:77043000-77048000	Strong transcription	Sigmoid Colon	Sigmoid Colon
27	chr11:77043000-77048600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr11:77043000-77048600	Strong transcription	Fetal Intestine Large	intestine
29	chr11:77043000-77048600	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr11:77043000-77048800	Strong transcription	Primary T cells from cord blood	blood
31	chr11:77043000-77048800	Strong transcription	Stomach Smooth Muscle	stomach
32	chr11:77043000-77049200	Strong transcription	Placenta	Placenta
33	chr11:77043000-77049800	Strong transcription	Adipose Nuclei	Adipose
34	chr11:77043000-77051600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr11:77043000-77056200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr11:77043000-77061000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr11:77043200-77048600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr11:77043200-77048600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr11:77043200-77055400	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr11:77043400-77048400	Strong transcription	Fetal Thymus	thymus
41	chr11:77043400-77048400	Strong transcription	Dnd41	blood
42	chr11:77043400-77054600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr11:77043400-77056800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr11:77043400-77066400	Weak transcription	Esophagus	oesophagus
45	chr11:77043400-77072600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:77043400-77074800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr11:77043400-77082400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr11:77043400-77083600	Weak transcription	Thymus	Thymus
49	chr11:77043600-77060800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr11:77043800-77049800	Strong transcription	iPS-15b Cell Line	embryonic stem cell

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