Variant report

Variant	rs55988236
Chromosome Location	chr12:29782695-29782696
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs55778831	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74078909	1.00[AMR][1000 genomes]
rs74082503	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	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv469190	chr12:29612425-29811471	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv557917	chr12:29612425-29811471	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv1053629	chr12:29680163-29826626	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv529328	chr12:29692414-30246209	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv870004	chr12:29762415-29825798	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer 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:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29744400-29790800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr12:29744600-29791000	Weak transcription	Fetal Muscle Leg	muscle
3	chr12:29760400-29787400	Weak transcription	Adipose Nuclei	Adipose
4	chr12:29763800-29786800	Weak transcription	Spleen	Spleen
5	chr12:29763800-29793600	Weak transcription	Right Ventricle	heart
6	chr12:29765000-29786800	Weak transcription	HSMMtube	muscle
7	chr12:29765200-29785400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr12:29765600-29802600	Weak transcription	Psoas Muscle	Psoas
9	chr12:29770400-29792800	Weak transcription	NHLF	lung
10	chr12:29770600-29786600	Weak transcription	NHDF-Ad	bronchial
11	chr12:29771000-29791800	Weak transcription	Hela-S3	cervix
12	chr12:29771200-29786600	Weak transcription	HMEC	breast
13	chr12:29774000-29784800	Weak transcription	Left Ventricle	heart
14	chr12:29778400-29783000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr12:29778400-29826000	Weak transcription	Fetal Kidney	kidney
16	chr12:29778600-29783000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr12:29778600-29787200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr12:29778800-29785400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr12:29778800-29795000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr12:29779000-29784600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr12:29779200-29787800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:29779400-29788000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr12:29779600-29787000	Weak transcription	Fetal Heart	heart
24	chr12:29780200-29783600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr12:29780600-29785000	Weak transcription	Brain Angular Gyrus	brain
26	chr12:29780600-29787000	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr12:29780800-29787000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr12:29780800-29787000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr12:29781000-29783600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr12:29781400-29782800	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr12:29781400-29792000	Weak transcription	Brain Anterior Caudate	brain
32	chr12:29781600-29783600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:29781600-29784400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:29781600-29784800	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr12:29781600-29786400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr12:29781800-29783200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr12:29781800-29793600	Weak transcription	Aorta	Aorta
38	chr12:29782000-29783400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr12:29782000-29787800	Strong transcription	Muscle Satellite Cultured Cells	--
40	chr12:29782000-29793800	Weak transcription	Fetal Stomach	stomach
41	chr12:29782200-29783000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr12:29782400-29785400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr12:29782600-29784800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr12:29782600-29786600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr12:29782600-29787400	Weak transcription	HSMM	muscle
46	chr12:29782600-29791200	Weak transcription	Ovary	ovary
47	chr12:29782600-29793800	Weak transcription	Skeletal Muscle Male	skeletal muscle

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