Variant report

Variant	rs12284980
Chromosome Location	chr11:100589977-100589978
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:100578654..100584539-chr11:100585758..100591241,5	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11224404	1.00[AFR][1000 genomes]
rs11224418	0.90[AFR][1000 genomes]
rs11224428	1.00[AFR][1000 genomes]
rs11224429	1.00[AFR][1000 genomes]
rs11224438	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs12274762	1.00[AFR][1000 genomes]
rs12277269	1.00[AFR][1000 genomes]
rs12278938	1.00[AFR][1000 genomes]
rs12279270	1.00[AFR][1000 genomes]
rs12279931	1.00[AFR][1000 genomes]
rs13377291	0.91[YRI][hapmap];0.93[AFR][1000 genomes]
rs61104011	1.00[AFR][1000 genomes]
rs73573395	0.97[AFR][1000 genomes]
rs73575539	1.00[AFR][1000 genomes]
rs7933646	1.00[YRI][hapmap];1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053430	chr11:99888390-100629136	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1042067	chr11:99889697-100629136	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1037689	chr11:99895378-100624599	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1040942	chr11:99895378-100629136	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1039852	chr11:99901695-100610533	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv541152	chr11:99901695-100610533	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1045190	chr11:99913193-100627395	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv541153	chr11:99913193-100627395	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv529454	chr11:99913394-100627255	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv520995	chr11:100163957-100681211	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv530643	chr11:100196082-100713156	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv1043022	chr11:100387466-100610533	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv832246	chr11:100426725-100606957	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv898327	chr11:100569021-100631075	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100561000-100590200	Weak transcription	Duodenum Mucosa	Duodenum
2	chr11:100561000-100590600	Weak transcription	Lung	lung
3	chr11:100566800-100590000	Weak transcription	Fetal Stomach	stomach
4	chr11:100572400-100590000	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr11:100572400-100590200	Weak transcription	Placenta	Placenta
6	chr11:100575200-100590000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr11:100575400-100590200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:100576200-100590200	Weak transcription	Small Intestine	intestine
9	chr11:100580200-100590200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr11:100581000-100590000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr11:100583600-100590000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:100584200-100590000	Weak transcription	Fetal Intestine Small	intestine
13	chr11:100584200-100590200	Weak transcription	Fetal Intestine Large	intestine
14	chr11:100585400-100590200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr11:100585800-100590200	Weak transcription	Right Ventricle	heart
16	chr11:100586400-100590000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:100586400-100590000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr11:100586400-100590000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr11:100586400-100590000	Weak transcription	HUVEC	blood vessel
20	chr11:100586400-100590200	Weak transcription	Right Atrium	heart
21	chr11:100586400-100590600	Weak transcription	Fetal Kidney	kidney
22	chr11:100586600-100590000	Weak transcription	Psoas Muscle	Psoas
23	chr11:100586800-100590000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr11:100586800-100590000	Weak transcription	Fetal Muscle Leg	muscle
25	chr11:100586800-100590000	Weak transcription	Left Ventricle	heart
26	chr11:100586800-100590200	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr11:100586800-100590200	Weak transcription	Spleen	Spleen
28	chr11:100587000-100590000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr11:100587000-100590200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr11:100588600-100590000	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr11:100588800-100590000	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr11:100588800-100591400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr11:100589000-100590000	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr11:100589000-100592200	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr11:100589400-100590000	Weak transcription	Brain Hippocampus Middle	brain
36	chr11:100589400-100590200	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr11:100589600-100590200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:100589600-100590200	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr11:100589600-100590200	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr11:100589800-100590000	Enhancers	Brain Anterior Caudate	brain
41	chr11:100589800-100590200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr11:100589800-100590200	Active TSS	Rectal Mucosa Donor 31	rectum
43	chr11:100589800-100590200	Enhancers	Stomach Smooth Muscle	stomach
44	chr11:100589800-100590200	Enhancers	HSMMtube	muscle
45	chr11:100589800-100590400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr11:100589800-100590400	Enhancers	Adipose Nuclei	Adipose
47	chr11:100589800-100590400	Enhancers	Liver	Liver
48	chr11:100589800-100590400	Enhancers	Brain Germinal Matrix	brain
49	chr11:100589800-100590600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr11:100589800-100590600	Enhancers	Colon Smooth Muscle	Colon

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