Variant report

Variant	rs12280139
Chromosome Location	chr11:77161189-77161190
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10466736	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11237185	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11237191	0.81[AFR][1000 genomes]
rs12278919	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12284863	0.81[AFR][1000 genomes]
rs12295046	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12295581	0.80[AFR][1000 genomes]
rs7103656	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7119661	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73494593	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
6	nsv1037724	chr11:77061945-77250391	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv541091	chr11:77061945-77250391	Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking 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	6 gene(s)	inside rSNPs	diseases
8	esv3437433	chr11:77101280-77291686	Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77142200-77164800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:77149200-77165400	Weak transcription	Ovary	ovary
3	chr11:77152200-77162600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr11:77152800-77166400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:77153600-77168600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr11:77155400-77181400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:77157000-77168400	Weak transcription	Small Intestine	intestine
8	chr11:77157600-77162600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr11:77157800-77162000	Enhancers	Primary T cells from cord blood	blood
10	chr11:77158000-77162600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr11:77158000-77162800	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr11:77158000-77162800	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr11:77158200-77162000	Enhancers	H1 Cell Line	embryonic stem cell
14	chr11:77158200-77168600	Weak transcription	Stomach Mucosa	stomach
15	chr11:77158400-77169800	Weak transcription	Fetal Intestine Large	intestine
16	chr11:77158600-77161400	Weak transcription	Fetal Thymus	thymus
17	chr11:77158600-77164000	Weak transcription	Fetal Intestine Small	intestine
18	chr11:77159000-77162400	Flanking Active TSS	GM12878-XiMat	blood
19	chr11:77159600-77161400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr11:77159600-77161800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr11:77159800-77161400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:77159800-77161800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr11:77159800-77168400	Weak transcription	Fetal Brain Female	brain
24	chr11:77160000-77161200	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr11:77160000-77161400	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr11:77160200-77161200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr11:77160200-77161400	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr11:77160200-77161600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr11:77160200-77162000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:77160200-77162400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr11:77160200-77169400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr11:77160400-77161200	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr11:77160600-77162000	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr11:77160600-77162000	Enhancers	Dnd41	blood
35	chr11:77160600-77162400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr11:77160600-77162600	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr11:77160600-77164800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr11:77160600-77165800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr11:77160600-77178000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr11:77160800-77161200	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr11:77160800-77161200	Enhancers	Brain Angular Gyrus	brain
42	chr11:77160800-77161200	Enhancers	Brain Hippocampus Middle	brain
43	chr11:77160800-77162400	Enhancers	Primary B cells from cord blood	blood
44	chr11:77160800-77162400	Enhancers	Primary hematopoietic stem cells	blood
45	chr11:77160800-77162400	Enhancers	Brain Cingulate Gyrus	brain
46	chr11:77160800-77162400	Enhancers	Duodenum Mucosa	Duodenum
47	chr11:77160800-77167000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr11:77161000-77162200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr11:77161000-77162600	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr11:77161000-77162600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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