Variant report

Variant	rs12418336
Chromosome Location	chr11:120353041-120353042
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	chr11:120351611..120354490-chr11:120357037..120360883,5	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12417273	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12418151	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12418329	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12419091	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12419759	1.00[AMR][1000 genomes]
rs12420409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12420968	1.00[AMR][1000 genomes]
rs12421291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12421331	1.00[AMR][1000 genomes]
rs12421477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4054	1.00[AMR][1000 genomes]
rs61900817	0.82[ASN][1000 genomes]
rs747419	0.90[ASN][1000 genomes]
rs7943147	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv529003	chr11:120209386-120355230	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv3479485	chr11:120352421-120354761	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3479496	chr11:120352421-120354761	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120301400-120355200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:120303600-120355600	Weak transcription	Stomach Mucosa	stomach
3	chr11:120304800-120359400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr11:120308000-120359000	Strong transcription	Placenta	Placenta
5	chr11:120308400-120357800	Strong transcription	Adipose Nuclei	Adipose
6	chr11:120310400-120358000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr11:120311200-120357200	Strong transcription	Duodenum Smooth Muscle	Duodenum
8	chr11:120312400-120354000	Strong transcription	Duodenum Mucosa	Duodenum
9	chr11:120312800-120357800	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr11:120314200-120362200	Strong transcription	Liver	Liver
11	chr11:120316400-120382000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr11:120320000-120358000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:120320200-120357600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr11:120321000-120358000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr11:120329000-120358800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr11:120335200-120359600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:120335800-120354000	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr11:120336200-120358600	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr11:120337400-120354200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr11:120337600-120357200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr11:120339800-120362200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr11:120340000-120353600	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr11:120341400-120355600	Weak transcription	Psoas Muscle	Psoas
24	chr11:120342200-120358400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr11:120342800-120353800	Strong transcription	HSMM	muscle
26	chr11:120342800-120358800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr11:120343200-120353200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr11:120343200-120354200	Strong transcription	Fetal Intestine Large	intestine
29	chr11:120343400-120353200	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr11:120343600-120357200	Strong transcription	Stomach Smooth Muscle	stomach
31	chr11:120343800-120353800	Strong transcription	NH-A	brain
32	chr11:120343800-120358000	Strong transcription	Osteobl	bone
33	chr11:120344000-120353800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr11:120344000-120359200	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr11:120344200-120353800	Strong transcription	Fetal Lung	lung
36	chr11:120344200-120353800	Strong transcription	NHDF-Ad	bronchial
37	chr11:120344200-120354000	Strong transcription	Muscle Satellite Cultured Cells	--
38	chr11:120344200-120358600	Strong transcription	Brain Inferior Temporal Lobe	brain
39	chr11:120345200-120353200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr11:120345200-120353200	Strong transcription	Skeletal Muscle Male	skeletal muscle
41	chr11:120345200-120358400	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr11:120345400-120356600	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr11:120345600-120353400	Strong transcription	Sigmoid Colon	Sigmoid Colon
44	chr11:120345600-120357400	Strong transcription	Fetal Muscle Leg	muscle
45	chr11:120346000-120353800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr11:120346400-120359800	Weak transcription	Primary B cells from cord blood	blood
47	chr11:120346800-120357400	Strong transcription	Fetal Stomach	stomach
48	chr11:120348200-120353600	Strong transcription	NHEK	skin
49	chr11:120348200-120353800	Strong transcription	Brain Angular Gyrus	brain
50	chr11:120348600-120353800	Strong transcription	HMEC	breast

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