Variant report

Variant	rs12278732
Chromosome Location	chr11:48059151-48059152
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:48049637..48052585-chr11:48057175..48059884,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10466481	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs11039502	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs12275949	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1228046	1.00[EUR][1000 genomes]
rs1228047	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1228048	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1228050	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1228053	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12280964	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12281120	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12282774	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12287023	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12290438	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7129454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052397	chr11:47675470-48594256	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv530620	chr11:47765455-48664555	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
3	nsv1036992	chr11:47794621-48666024	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv1036451	chr11:47902321-48616646	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv541037	chr11:47902321-48616646	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS 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 miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv1047490	chr11:47916708-48388686	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS 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 miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1044266	chr11:47929586-48276132	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv541038	chr11:47929586-48276132	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS 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 miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv1053145	chr11:47967902-48086950	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv870381	chr11:47989434-48142648	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
11	esv3396029	chr11:47993857-48241494	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
12	nsv897327	chr11:48004369-48911660	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
13	nsv869124	chr11:48014539-48783113	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
14	nsv1051805	chr11:48016488-48378048	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
15	nsv428573	chr11:48032457-48152344	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
16	nsv897328	chr11:48043053-48901553	Strong transcription Enhancers Genic enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
17	nsv897329	chr11:48052676-48319974	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:48046600-48059600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr11:48047400-48073400	Weak transcription	HSMMtube	muscle
3	chr11:48047400-48073800	Weak transcription	Left Ventricle	heart
4	chr11:48050200-48068200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:48050800-48073000	Weak transcription	Esophagus	oesophagus
6	chr11:48051600-48071200	Weak transcription	Fetal Intestine Large	intestine
7	chr11:48051600-48073800	Weak transcription	Aorta	Aorta
8	chr11:48052600-48060000	Enhancers	Brain Substantia Nigra	brain
9	chr11:48052800-48059200	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr11:48053200-48060000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr11:48053600-48065400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr11:48053600-48065800	Weak transcription	Colonic Mucosa	Colon
13	chr11:48053800-48062600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr11:48053800-48065200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr11:48053800-48073400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr11:48054000-48059600	Weak transcription	Hela-S3	cervix
17	chr11:48054000-48062400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr11:48054400-48060000	Enhancers	Fetal Muscle Leg	muscle
19	chr11:48054400-48060000	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr11:48055000-48060000	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr11:48055200-48062400	Weak transcription	Lung	lung
22	chr11:48055600-48064800	Weak transcription	Duodenum Mucosa	Duodenum
23	chr11:48055800-48059400	Weak transcription	Gastric	stomach
24	chr11:48055800-48063800	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr11:48056800-48060200	Enhancers	Primary B cells from cord blood	blood
26	chr11:48056800-48064000	Weak transcription	Stomach Mucosa	stomach
27	chr11:48056800-48064800	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr11:48057000-48059400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr11:48057000-48059400	Weak transcription	Spleen	Spleen
30	chr11:48057000-48059600	Enhancers	GM12878-XiMat	blood
31	chr11:48057000-48060000	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr11:48057000-48061400	Weak transcription	Fetal Intestine Small	intestine
33	chr11:48057000-48062600	Weak transcription	Liver	Liver
34	chr11:48057000-48062600	Weak transcription	Pancreas	Pancrea
35	chr11:48057000-48065200	Weak transcription	Colon Smooth Muscle	Colon
36	chr11:48057000-48065200	Weak transcription	Placenta	Placenta
37	chr11:48057000-48065400	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr11:48057000-48065600	Weak transcription	Right Atrium	heart
39	chr11:48057000-48065600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr11:48057000-48066000	Weak transcription	Psoas Muscle	Psoas
41	chr11:48057000-48069800	Weak transcription	Stomach Smooth Muscle	stomach
42	chr11:48057200-48062400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr11:48057400-48060000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr11:48057400-48060400	Weak transcription	HSMM	muscle
45	chr11:48057400-48061000	Enhancers	Primary B cells from peripheral blood	blood
46	chr11:48057400-48061600	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr11:48057600-48063600	Weak transcription	Primary hematopoietic stem cells	blood
48	chr11:48057600-48064800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr11:48057800-48059600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr11:48057800-48061600	Enhancers	Brain Hippocampus Middle	brain

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