Variant report

Variant	rs11613875
Chromosome Location	chr12:56082568-56082569
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11615467	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17117860	1.00[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17117883	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17117895	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2231462	1.00[YRI][hapmap]
rs2231464	1.00[YRI][hapmap]
rs60169753	0.96[EUR][1000 genomes]
rs73119213	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948625	chr12:55838718-56118833	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv525231	chr12:56076919-56124332	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv832423	chr12:56080822-56253698	Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56075800-56100200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr12:56076000-56087400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr12:56076000-56097600	Weak transcription	Gastric	stomach
4	chr12:56076000-56100200	Weak transcription	Ovary	ovary
5	chr12:56076200-56085600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr12:56076200-56086200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr12:56076200-56086400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr12:56076200-56086400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr12:56076200-56086800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr12:56076400-56098400	Weak transcription	Fetal Brain Female	brain
11	chr12:56076800-56093200	Weak transcription	Fetal Heart	heart
12	chr12:56076800-56099800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr12:56077000-56083000	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr12:56077000-56084400	Weak transcription	Colonic Mucosa	Colon
15	chr12:56077000-56089400	Weak transcription	HepG2	liver
16	chr12:56077400-56083400	Strong transcription	Fetal Muscle Trunk	muscle
17	chr12:56077600-56083600	Strong transcription	Fetal Muscle Leg	muscle
18	chr12:56077600-56094200	Weak transcription	Psoas Muscle	Psoas
19	chr12:56077800-56094400	Weak transcription	Right Atrium	heart
20	chr12:56078000-56083600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr12:56078200-56086600	Weak transcription	Brain Germinal Matrix	brain
22	chr12:56078400-56083000	Strong transcription	H9 Cell Line	embryonic stem cell
23	chr12:56078400-56083200	Strong transcription	Adipose Nuclei	Adipose
24	chr12:56078400-56083400	Strong transcription	Fetal Intestine Small	intestine
25	chr12:56078400-56083600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr12:56078400-56083600	Strong transcription	HSMMtube	muscle
27	chr12:56078400-56083600	Strong transcription	Osteobl	bone
28	chr12:56078600-56083400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr12:56078600-56083400	Strong transcription	Skeletal Muscle Male	skeletal muscle
30	chr12:56078800-56083200	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr12:56078800-56083400	Strong transcription	Aorta	Aorta
32	chr12:56079000-56083400	Strong transcription	Fetal Stomach	stomach
33	chr12:56079000-56097800	Weak transcription	Thymus	Thymus
34	chr12:56079200-56083400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:56079600-56082600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr12:56079800-56083200	Strong transcription	Colon Smooth Muscle	Colon
37	chr12:56080000-56083400	Strong transcription	Left Ventricle	heart
38	chr12:56080000-56089400	Weak transcription	Duodenum Mucosa	Duodenum
39	chr12:56080400-56083200	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr12:56080600-56083400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr12:56080600-56083400	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr12:56080600-56083600	Strong transcription	Stomach Smooth Muscle	stomach
43	chr12:56080600-56089800	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr12:56080800-56086600	Weak transcription	NHDF-Ad	bronchial
45	chr12:56080800-56094000	Weak transcription	Spleen	Spleen
46	chr12:56081000-56087600	Weak transcription	Fetal Intestine Large	intestine
47	chr12:56081000-56098800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr12:56081400-56083600	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr12:56081600-56083400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr12:56081800-56086200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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