Variant report

Variant	rs11057185
Chromosome Location	chr12:123668501-123668502
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:123661780..123663956-chr12:123666220..123668601,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12304521	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427924	chr12:123412172-123722059	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
2	esv1825473	chr12:123582855-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv870326	chr12:123585990-123719323	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv2761773	chr12:123616003-123723460	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	esv1803368	chr12:123640853-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
6	esv1830566	chr12:123640853-123822503	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123636600-123676200	Weak transcription	Gastric	stomach
2	chr12:123636600-123716600	Weak transcription	Esophagus	oesophagus
3	chr12:123636800-123675200	Weak transcription	Fetal Heart	heart
4	chr12:123636800-123679600	Weak transcription	Colonic Mucosa	Colon
5	chr12:123636800-123687400	Weak transcription	Psoas Muscle	Psoas
6	chr12:123637000-123673400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr12:123637000-123713000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr12:123637200-123716400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:123638600-123687200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr12:123638800-123685000	Strong transcription	Fetal Thymus	thymus
11	chr12:123640400-123676000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:123648400-123679200	Strong transcription	Thymus	Thymus
13	chr12:123648800-123673600	Weak transcription	HMEC	breast
14	chr12:123650400-123686400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr12:123650600-123671600	Weak transcription	Brain Germinal Matrix	brain
16	chr12:123650600-123673600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr12:123650600-123685800	Weak transcription	Small Intestine	intestine
18	chr12:123650600-123687200	Weak transcription	Pancreas	Pancrea
19	chr12:123650600-123716400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr12:123651200-123670000	Weak transcription	Spleen	Spleen
21	chr12:123651200-123673600	Weak transcription	Brain Substantia Nigra	brain
22	chr12:123651400-123672000	Weak transcription	NHDF-Ad	bronchial
23	chr12:123651400-123673600	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr12:123651400-123673600	Weak transcription	NHEK	skin
25	chr12:123651400-123675800	Weak transcription	Ovary	ovary
26	chr12:123651600-123676000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr12:123652000-123673000	Weak transcription	Aorta	Aorta
28	chr12:123652200-123676200	Weak transcription	Right Ventricle	heart
29	chr12:123652600-123672800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr12:123652800-123707800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr12:123654000-123707000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr12:123654200-123712000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:123654200-123715400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr12:123654600-123683000	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr12:123655000-123681000	Strong transcription	Fetal Muscle Trunk	muscle
36	chr12:123655000-123707200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr12:123655000-123708000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr12:123655000-123712000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr12:123655200-123682200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr12:123657000-123680600	Strong transcription	Fetal Stomach	stomach
41	chr12:123657000-123680800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr12:123658600-123682000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr12:123658800-123669400	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr12:123658800-123669800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:123658800-123673600	Weak transcription	NHLF	lung
46	chr12:123658800-123675800	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr12:123659000-123673400	Weak transcription	HSMMtube	muscle
48	chr12:123659800-123675200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr12:123661200-123673400	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr12:123661400-123672000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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