Variant report

Variant	rs12295245
Chromosome Location	chr11:32991279-32991280
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11032054	0.87[AFR][1000 genomes]
rs11032057	0.87[AFR][1000 genomes]
rs11032059	0.87[AFR][1000 genomes]
rs11032067	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11032068	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12269925	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12270033	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12280829	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12287776	0.95[AFR][1000 genomes]
rs12288319	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12290810	0.83[AFR][1000 genomes]
rs16923664	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73474594	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73476624	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758262	chr11:32714643-33049940	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	esv2759815	chr11:32714643-33049940	Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
3	esv34742	chr11:32796092-33004024	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	esv2753057	chr11:32796124-33061724	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
5	esv2753743	chr11:32796124-33084924	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
6	nsv1040484	chr11:32951066-33093204	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv1046198	chr11:32954100-33075142	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	esv2762904	chr11:32969258-33586535	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised 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	65 gene(s)	inside rSNPs	diseases
9	nsv1041149	chr11:32981164-33496670	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
10	nsv1053823	chr11:32981164-33533356	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:32950400-32994400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr11:32955400-32994200	Weak transcription	Gastric	stomach
3	chr11:32955400-32994400	Weak transcription	Esophagus	oesophagus
4	chr11:32955600-33000800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr11:32955600-33003800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr11:32956200-32994200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr11:32956800-32994200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr11:32962400-32994400	Weak transcription	Fetal Heart	heart
9	chr11:32968200-32994200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:32968200-32998800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr11:32968200-33002000	Weak transcription	Brain Substantia Nigra	brain
12	chr11:32968200-33003000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:32968800-33002000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:32969600-32997000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr11:32970200-33001800	Weak transcription	Psoas Muscle	Psoas
16	chr11:32971800-32999600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr11:32973000-33003200	Weak transcription	NHLF	lung
18	chr11:32973200-33008600	Weak transcription	HSMMtube	muscle
19	chr11:32973600-32996000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr11:32974400-32996200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr11:32975200-33000600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr11:32975200-33000600	Strong transcription	Hela-S3	cervix
23	chr11:32975200-33001800	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr11:32975400-32992800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr11:32975400-33000600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr11:32975400-33000800	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr11:32975600-33000600	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr11:32975600-33002200	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr11:32975800-33001000	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr11:32975800-33001800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr11:32975800-33002000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:32975800-33002000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr11:32975800-33003000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr11:32976000-32991400	Weak transcription	NHEK	skin
35	chr11:32976000-32995200	Weak transcription	Fetal Brain Male	brain
36	chr11:32976200-33000200	Weak transcription	Aorta	Aorta
37	chr11:32977800-32995800	Weak transcription	HMEC	breast
38	chr11:32978200-33000400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr11:32978600-33000200	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr11:32978600-33002000	Weak transcription	Colonic Mucosa	Colon
41	chr11:32979600-33009400	Weak transcription	Stomach Mucosa	stomach
42	chr11:32980200-32991600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr11:32980200-32994200	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr11:32980200-32998000	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr11:32980200-33002000	Weak transcription	Pancreas	Pancrea
46	chr11:32980200-33002000	Weak transcription	Spleen	Spleen
47	chr11:32980800-32997000	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr11:32980800-32997000	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr11:32980800-32997200	Weak transcription	Brain Angular Gyrus	brain
50	chr11:32980800-33003000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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