Variant report

Variant	rs12420409
Chromosome Location	chr11:120315858-120315859
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	chr11:120314640..120316272-chr11:120319708..120321495,2	K562	blood:
2	chr11:120311224..120316272-chr11:120317740..120322611,5	K562	blood:

Variant related genes	Relation type
ENSG00000196914	Chromatin interaction

Extended variants
information (count: 18 )
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]
rs12418336	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]
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:4 , 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	esv3327475	chr11:120312410-120317541	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120272400-120320600	Weak transcription	Psoas Muscle	Psoas
2	chr11:120275600-120322200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:120277600-120319800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:120285600-120319800	Weak transcription	Gastric	stomach
5	chr11:120291800-120319200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr11:120294000-120316000	Weak transcription	Primary B cells from cord blood	blood
7	chr11:120295400-120318600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr11:120296000-120316200	Weak transcription	Esophagus	oesophagus
9	chr11:120296000-120316400	Weak transcription	Lung	lung
10	chr11:120296000-120317600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr11:120301400-120355200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr11:120302600-120316200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:120302800-120317400	Weak transcription	Small Intestine	intestine
14	chr11:120303000-120317000	Weak transcription	K562	blood
15	chr11:120303000-120317400	Weak transcription	Pancreas	Pancrea
16	chr11:120303000-120319400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr11:120303600-120319000	Weak transcription	HMEC	breast
18	chr11:120303600-120355600	Weak transcription	Stomach Mucosa	stomach
19	chr11:120303800-120319000	Weak transcription	Hela-S3	cervix
20	chr11:120303800-120328000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr11:120304400-120323200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr11:120304600-120329800	Strong transcription	HSMM	muscle
23	chr11:120304800-120316400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr11:120304800-120359400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr11:120306600-120341200	Strong transcription	Osteobl	bone
26	chr11:120306800-120319800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr11:120306800-120341600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr11:120307000-120335800	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr11:120307000-120341200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr11:120307600-120318000	Strong transcription	NHDF-Ad	bronchial
31	chr11:120307600-120334600	Strong transcription	Skeletal Muscle Female	skeletal muscle
32	chr11:120308000-120319200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:120308000-120341800	Strong transcription	Fetal Intestine Large	intestine
34	chr11:120308000-120352600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr11:120308000-120359000	Strong transcription	Placenta	Placenta
36	chr11:120308200-120330600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr11:120308200-120336400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr11:120308400-120333200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr11:120308400-120334600	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr11:120308400-120339000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr11:120308400-120339000	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr11:120308400-120357800	Strong transcription	Adipose Nuclei	Adipose
43	chr11:120309600-120320000	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr11:120309800-120333800	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr11:120310000-120336000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr11:120310200-120350600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:120310400-120316200	Weak transcription	Aorta	Aorta
48	chr11:120310400-120316600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr11:120310400-120358000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr11:120310800-120333800	Strong transcription	HUES48 Cell Line	embryonic stem cell

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