Variant report

Variant	rs2643935
Chromosome Location	chr12:26150955-26150956
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs16929553	1.00[AMR][1000 genomes]
rs2643936	1.00[AMR][1000 genomes]
rs2729630	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2729652	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4462439	1.00[AMR][1000 genomes]
rs55780967	1.00[AMR][1000 genomes]
rs73296966	1.00[AMR][1000 genomes]
rs73298892	1.00[AMR][1000 genomes]
rs74071341	1.00[AMR][1000 genomes]
rs74071617	1.00[AMR][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	esv2758300	chr12:25992331-26161116	Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	esv2759886	chr12:25992331-26161116	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	nsv898931	chr12:26123345-26192936	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26139600-26160000	Weak transcription	Pancreas	Pancrea
2	chr12:26142200-26155600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr12:26143800-26151200	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr12:26143800-26151200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr12:26144000-26151200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr12:26144000-26151600	Enhancers	Colon Smooth Muscle	Colon
7	chr12:26144400-26152200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr12:26145000-26151400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr12:26145200-26151200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:26145200-26151400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr12:26145200-26152600	Enhancers	Osteobl	bone
12	chr12:26145400-26151000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr12:26145600-26151800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:26145600-26163000	Weak transcription	Fetal Muscle Leg	muscle
15	chr12:26145800-26152400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:26145800-26153400	Weak transcription	Right Atrium	heart
17	chr12:26146200-26151200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:26146200-26152200	Enhancers	HSMM	muscle
19	chr12:26146200-26163000	Weak transcription	Lung	lung
20	chr12:26146600-26155600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:26146800-26151000	Enhancers	HSMMtube	muscle
22	chr12:26147200-26151400	Enhancers	Rectal Smooth Muscle	rectum
23	chr12:26148000-26151600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr12:26148000-26152200	Enhancers	Muscle Satellite Cultured Cells	--
25	chr12:26148000-26152200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr12:26148000-26163600	Weak transcription	Aorta	Aorta
27	chr12:26148200-26151000	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:26148200-26151000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:26148200-26151200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr12:26148200-26155600	Weak transcription	Ovary	ovary
31	chr12:26148200-26157000	Weak transcription	Psoas Muscle	Psoas
32	chr12:26148400-26151000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr12:26148400-26151600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr12:26149000-26151600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr12:26149000-26152600	Weak transcription	Fetal Intestine Small	intestine
36	chr12:26149600-26151200	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr12:26149600-26151200	Enhancers	GM12878-XiMat	blood
38	chr12:26150000-26151400	Enhancers	Hela-S3	cervix
39	chr12:26150200-26151200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr12:26150200-26151200	Enhancers	HMEC	breast
41	chr12:26150200-26151400	Enhancers	NHEK	skin
42	chr12:26150200-26151600	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr12:26150200-26152200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr12:26150600-26151000	Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr12:26150600-26151000	Enhancers	Fetal Heart	heart
46	chr12:26150600-26151000	Enhancers	Fetal Lung	lung
47	chr12:26150600-26151000	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr12:26150600-26151200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr12:26150600-26151200	Enhancers	Brain Anterior Caudate	brain
50	chr12:26150600-26151200	Enhancers	Duodenum Smooth Muscle	Duodenum

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