Variant report

Variant	rs12099043
Chromosome Location	chr11:48067814-48067815
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	chr11:48061733..48064075-chr11:48066877..48069020,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12099166	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66468432	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67767527	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73464806	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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
18	nsv1048554	chr11:48062861-48388686	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:48047400-48073400	Weak transcription	HSMMtube	muscle
2	chr11:48047400-48073800	Weak transcription	Left Ventricle	heart
3	chr11:48050200-48068200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr11:48050800-48073000	Weak transcription	Esophagus	oesophagus
5	chr11:48051600-48071200	Weak transcription	Fetal Intestine Large	intestine
6	chr11:48051600-48073800	Weak transcription	Aorta	Aorta
7	chr11:48053800-48073400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr11:48057000-48069800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr11:48058000-48068600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr11:48058000-48069600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr11:48058000-48073400	Weak transcription	K562	blood
12	chr11:48058400-48069600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr11:48058600-48068800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr11:48058600-48069600	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr11:48058600-48072000	Weak transcription	Fetal Kidney	kidney
16	chr11:48060000-48073000	Weak transcription	Hela-S3	cervix
17	chr11:48060000-48073200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr11:48061000-48068000	Enhancers	Brain Anterior Caudate	brain
19	chr11:48062400-48068000	Enhancers	Brain Angular Gyrus	brain
20	chr11:48062600-48073400	Weak transcription	Gastric	stomach
21	chr11:48062800-48070600	Weak transcription	Pancreas	Pancrea
22	chr11:48063000-48068200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
23	chr11:48063000-48068200	Enhancers	Primary B cells from peripheral blood	blood
24	chr11:48063600-48068200	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr11:48064200-48068200	Enhancers	Primary T cells fromperipheralblood	blood
26	chr11:48064200-48068800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr11:48064200-48069000	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr11:48064400-48068600	Enhancers	Brain Substantia Nigra	brain
29	chr11:48064400-48068600	Weak transcription	Stomach Mucosa	stomach
30	chr11:48064400-48069600	Weak transcription	Fetal Stomach	stomach
31	chr11:48064400-48069600	Weak transcription	NHDF-Ad	bronchial
32	chr11:48064400-48073200	Weak transcription	NHLF	lung
33	chr11:48064600-48068000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr11:48064600-48068200	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr11:48064600-48069200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr11:48064600-48073400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr11:48065000-48071600	Genic enhancers	A549	lung
38	chr11:48065600-48068200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr11:48065600-48076000	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr11:48065800-48068200	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr11:48065800-48069400	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr11:48065800-48074200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr11:48066000-48069600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr11:48066000-48069600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr11:48066000-48069800	Weak transcription	Adipose Nuclei	Adipose
46	chr11:48066000-48071800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr11:48066000-48073000	Weak transcription	Duodenum Mucosa	Duodenum
48	chr11:48066000-48073800	Weak transcription	Colonic Mucosa	Colon
49	chr11:48066000-48073800	Weak transcription	Right Atrium	heart
50	chr11:48066000-48074000	Weak transcription	Fetal Muscle Leg	muscle

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