Variant report

Variant	rs546193417
Chromosome Location	chr10:44879839-44879840
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054649	chr10:44848921-44889713	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv550699	chr10:44868257-44882203	Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv895089	chr10:44874867-44880838	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv895090	chr10:44874867-44884959	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv895091	chr10:44875040-44888130	Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv895092	chr10:44875166-44884959	Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv895093	chr10:44876461-44884959	Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv895094	chr10:44876499-44884959	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv895095	chr10:44876586-44884959	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv895096	chr10:44876586-44886206	Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv895097	chr10:44876586-44888130	Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv895098	chr10:44877501-44881202	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
13	nsv550700	chr10:44878064-44882203	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
14	nsv895099	chr10:44878114-44884959	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
15	nsv895100	chr10:44878835-44884959	Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
16	esv3375268	chr10:44878846-44883969	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
17	esv3421241	chr10:44879371-44881919	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:44877400-44880400	Flanking Active TSS	Adipose Nuclei	Adipose
2	chr10:44877400-44880400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
3	chr10:44877600-44880400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
4	chr10:44877600-44880800	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr10:44877600-44881000	Bivalent/Poised TSS	Fetal Thymus	thymus
6	chr10:44877600-44881200	Active TSS	Rectal Smooth Muscle	rectum
7	chr10:44877600-44881200	Active TSS	Right Atrium	heart
8	chr10:44877800-44880800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
9	chr10:44877800-44881000	Active TSS	NHDF-Ad	bronchial
10	chr10:44877800-44881200	Active TSS	Left Ventricle	heart
11	chr10:44877800-44881400	Active TSS	Fetal Kidney	kidney
12	chr10:44878000-44880200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr10:44878400-44880000	Active TSS	Brain Substantia Nigra	brain
14	chr10:44878400-44880400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr10:44878400-44880800	Bivalent/Poised TSS	Fetal Lung	lung
16	chr10:44878400-44881200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr10:44878600-44880400	Active TSS	Brain Angular Gyrus	brain
18	chr10:44878600-44881200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr10:44878600-44881200	Enhancers	Fetal Heart	heart
20	chr10:44878600-44881600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
21	chr10:44878800-44881000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr10:44878800-44881200	Active TSS	Ovary	ovary
23	chr10:44878800-44881800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
24	chr10:44879000-44880000	Active TSS	Gastric	stomach
25	chr10:44879000-44880200	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
26	chr10:44879000-44880400	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr10:44879000-44881000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
28	chr10:44879000-44881000	Active TSS	Psoas Muscle	Psoas
29	chr10:44879000-44881200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
30	chr10:44879000-44881400	Active TSS	Brain Anterior Caudate	brain
31	chr10:44879000-44882400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
32	chr10:44879200-44880000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
33	chr10:44879200-44880000	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
34	chr10:44879200-44880000	Bivalent Enhancer	Stomach Mucosa	stomach
35	chr10:44879200-44880000	Active TSS	HSMM	muscle
36	chr10:44879200-44880200	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
37	chr10:44879200-44880200	Flanking Active TSS	NH-A	brain
38	chr10:44879200-44880400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr10:44879200-44880400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr10:44879200-44880400	Flanking Active TSS	Liver	Liver
41	chr10:44879200-44880400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
42	chr10:44879200-44880800	Active TSS	Aorta	Aorta
43	chr10:44879200-44880800	Bivalent/Poised TSS	Thymus	Thymus
44	chr10:44879200-44881000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr10:44879200-44881200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr10:44879200-44881200	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
47	chr10:44879400-44880000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr10:44879400-44880000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr10:44879400-44880200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
50	chr10:44879400-44880400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood

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