Variant report

Variant	rs12796044
Chromosome Location	chr11:58940049-58940050
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050013	chr11:58394598-59221090	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv948365	chr11:58515163-59156405	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	esv2758272	chr11:58700092-59008673	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv2759830	chr11:58700092-59008673	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	esv1821250	chr11:58925860-59059179	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	esv3427190	chr11:58938601-58941149	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	esv3399192	chr11:58938776-58941074	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58938600-58942000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr11:58938800-58940200	Active TSS	H1 Cell Line	embryonic stem cell
3	chr11:58938800-58940200	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr11:58938800-58940200	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr11:58938800-58940200	Active TSS	Primary T cells from cord blood	blood
6	chr11:58938800-58940200	Active TSS	Brain Angular Gyrus	brain
7	chr11:58938800-58940200	Active TSS	Brain Germinal Matrix	brain
8	chr11:58938800-58940200	Active TSS	Fetal Brain Female	brain
9	chr11:58938800-58940400	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr11:58938800-58940400	Active TSS	Primary T helper naive cells from peripheral blood	blood
11	chr11:58938800-58940400	Active TSS	Brain Hippocampus Middle	brain
12	chr11:58938800-58941200	Active TSS	Brain Cingulate Gyrus	brain
13	chr11:58938800-58941400	Active TSS	Brain Anterior Caudate	brain
14	chr11:58938800-58941800	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr11:58939000-58940200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:58939000-58940200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr11:58939000-58940200	Active TSS	Primary monocytes fromperipheralblood	blood
18	chr11:58939000-58940200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
19	chr11:58939000-58940200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
20	chr11:58939000-58940200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
21	chr11:58939000-58940200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
22	chr11:58939000-58940200	Active TSS	Primary T killer memory cells from peripheral blood	blood
23	chr11:58939000-58940200	Active TSS	Cortex derived primary cultured neurospheres	brain
24	chr11:58939000-58940200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr11:58939000-58940200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr11:58939000-58940200	Active TSS	Adipose Nuclei	Adipose
27	chr11:58939000-58940200	Active TSS	Colonic Mucosa	Colon
28	chr11:58939000-58940200	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
29	chr11:58939000-58940200	Active TSS	Fetal Muscle Trunk	muscle
30	chr11:58939000-58940200	Active TSS	Fetal Muscle Leg	muscle
31	chr11:58939000-58940200	Active TSS	Placenta	Placenta
32	chr11:58939000-58940200	Active TSS	Fetal Stomach	stomach
33	chr11:58939000-58940200	Active TSS	Left Ventricle	heart
34	chr11:58939000-58940200	Active TSS	Rectal Smooth Muscle	rectum
35	chr11:58939000-58940200	Active TSS	Right Atrium	heart
36	chr11:58939000-58940200	Active TSS	Spleen	Spleen
37	chr11:58939000-58940200	Active TSS	HepG2	liver
38	chr11:58939000-58940200	Active TSS	NHLF	lung
39	chr11:58939000-58940400	Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr11:58939000-58940400	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr11:58939000-58940400	Active TSS	Primary B cells from peripheral blood	blood
42	chr11:58939000-58940400	Active TSS	Rectal Mucosa Donor 29	rectum
43	chr11:58939000-58940600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:58939000-58940600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr11:58939000-58940800	Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr11:58939000-58940800	Active TSS	Muscle Satellite Cultured Cells	--
47	chr11:58939000-58941000	Active TSS	Hela-S3	cervix
48	chr11:58939000-58941200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr11:58939000-58941200	Active TSS	A549	lung
50	chr11:58939000-58941400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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