Variant report

Variant	rs12288149
Chromosome Location	chr11:108199429-108199430
allele	C/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:11)

rs_ID	r²[population]
rs11212608	1.00[AMR][1000 genomes]
rs11212654	1.00[YRI][hapmap]
rs12271798	1.00[AMR][1000 genomes]
rs12274438	1.00[AMR][1000 genomes]
rs12277464	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12278194	1.00[AMR][1000 genomes]
rs12279930	1.00[AMR][1000 genomes]
rs12290096	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12295336	1.00[YRI][hapmap]
rs56355831	1.00[AMR][1000 genomes]
rs7948919	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898383	chr11:108068954-108251211	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv898384	chr11:108097333-108251211	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1052254	chr11:108122683-108845008	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv541164	chr11:108122683-108845008	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv832262	chr11:108123831-108309350	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
6	esv1821877	chr11:108158134-108219339	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv832263	chr11:108183372-108384391	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108094800-108244400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:108131800-108209600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:108137800-108212000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr11:108138400-108209400	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr11:108139200-108208200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr11:108144400-108200800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr11:108145800-108235400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr11:108147200-108210800	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr11:108148200-108225600	Weak transcription	Esophagus	oesophagus
10	chr11:108148600-108202600	Weak transcription	Psoas Muscle	Psoas
11	chr11:108148600-108208800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:108148600-108225600	Weak transcription	Gastric	stomach
13	chr11:108149200-108208600	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr11:108149400-108211200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr11:108149600-108209000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr11:108149600-108209600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:108150200-108208800	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr11:108151400-108210000	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr11:108158200-108209800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr11:108160200-108212600	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr11:108160400-108211000	Strong transcription	Primary B cells from cord blood	blood
22	chr11:108161000-108209600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr11:108161200-108210400	Strong transcription	Primary B cells from peripheral blood	blood
24	chr11:108162000-108208800	Strong transcription	Dnd41	blood
25	chr11:108162800-108205800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr11:108162800-108209400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr11:108163600-108200200	Weak transcription	Spleen	Spleen
28	chr11:108165400-108209000	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr11:108176400-108225400	Weak transcription	Right Ventricle	heart
30	chr11:108177200-108208800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr11:108180400-108207800	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr11:108182200-108209200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr11:108182400-108220800	Weak transcription	Aorta	Aorta
34	chr11:108182400-108222200	Weak transcription	Pancreas	Pancrea
35	chr11:108182400-108223800	Weak transcription	Small Intestine	intestine
36	chr11:108183400-108203800	Strong transcription	Fetal Thymus	thymus
37	chr11:108184200-108208600	Strong transcription	Liver	Liver
38	chr11:108184400-108201000	Weak transcription	HUVEC	blood vessel
39	chr11:108187200-108201800	Weak transcription	Brain Cingulate Gyrus	brain
40	chr11:108187200-108211200	Weak transcription	K562	blood
41	chr11:108187600-108199800	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr11:108189000-108200000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr11:108190000-108208200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr11:108190000-108208600	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr11:108190200-108201800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr11:108190200-108207600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr11:108190200-108208400	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr11:108190600-108201000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr11:108191600-108207600	Weak transcription	A549	lung
50	chr11:108191800-108199600	Weak transcription	Primary hematopoietic stem cells	blood

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