Variant report

Variant	rs4763583
Chromosome Location	chr12:11007623-11007624
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12300797	1.00[AMR][1000 genomes]
rs12302178	1.00[AMR][1000 genomes]
rs1972571	1.00[AFR][1000 genomes]
rs2159901	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2597986	1.00[AMR][1000 genomes]
rs2900551	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3983357	1.00[AMR][1000 genomes]
rs3983358	1.00[AMR][1000 genomes]
rs4360778	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4763584	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6488339	1.00[AMR][1000 genomes]
rs7139132	1.00[AMR][1000 genomes]
rs7139268	1.00[AMR][1000 genomes]
rs7301324	1.00[AMR][1000 genomes]
rs7312325	1.00[AMR][1000 genomes]
rs7312662	1.00[AMR][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	nsv1049362	chr12:10893573-11018850	Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv898776	chr12:10909412-11032045	Genic enhancers Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv2758294	chr12:10969620-11714921	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
4	esv2759879	chr12:10969620-11714921	Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10973600-11009600	Weak transcription	HSMM	muscle
2	chr12:10988400-11008400	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr12:10989200-11008600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr12:10989400-11008200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:10990000-11008400	Weak transcription	Fetal Lung	lung
6	chr12:10990200-11008400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr12:10991200-11007800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:10991200-11008000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:10991400-11010800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr12:10993200-11008000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:10993800-11008600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:10994000-11007800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr12:10994000-11008000	Weak transcription	Brain Germinal Matrix	brain
14	chr12:10994000-11008200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:10994000-11008400	Weak transcription	Brain Substantia Nigra	brain
16	chr12:10994000-11008400	Weak transcription	Duodenum Mucosa	Duodenum
17	chr12:10994200-11008400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr12:10994200-11008400	Weak transcription	Thymus	Thymus
19	chr12:10994200-11008400	Weak transcription	HepG2	liver
20	chr12:10994200-11008600	Weak transcription	Spleen	Spleen
21	chr12:10994400-11008400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr12:10994400-11035000	Weak transcription	Fetal Kidney	kidney
23	chr12:10994800-11008400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr12:10995600-11010800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr12:10995800-11008400	Weak transcription	Brain Hippocampus Middle	brain
26	chr12:10997600-11008200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr12:10998000-11008200	Weak transcription	Primary B cells from peripheral blood	blood
28	chr12:10998200-11008600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr12:10998600-11008400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr12:10998600-11034800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr12:10999000-11010600	Weak transcription	Brain Angular Gyrus	brain
32	chr12:10999000-11029200	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr12:10999200-11008400	Weak transcription	Fetal Thymus	thymus
34	chr12:10999800-11008600	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr12:11000000-11008200	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr12:11000000-11008400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr12:11000000-11008400	Weak transcription	Fetal Stomach	stomach
38	chr12:11000000-11008600	Weak transcription	Liver	Liver
39	chr12:11000000-11010400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr12:11000200-11008000	Weak transcription	Fetal Muscle Leg	muscle
41	chr12:11000200-11008400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr12:11001200-11008400	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr12:11001400-11008600	Weak transcription	Adipose Nuclei	Adipose
44	chr12:11001600-11008400	Weak transcription	Ovary	ovary
45	chr12:11001800-11011400	Weak transcription	Stomach Smooth Muscle	stomach
46	chr12:11002400-11008400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr12:11002400-11008600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:11003200-11008200	Weak transcription	Primary T cells from cord blood	blood
49	chr12:11004400-11008000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr12:11004400-11008400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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