Variant report

Variant	rs542327664
Chromosome Location	chr2:99828784-99828785
allele	A/C
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	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv1013507	chr2:99729047-99861692	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv961842	chr2:99781138-99886836	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv515702	chr2:99827733-99922967	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
5	nsv458685	chr2:99827733-99922967	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
6	nsv582519	chr2:99827733-99922967	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
7	nsv874698	chr2:99827733-99924918	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 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	chr2:99798600-99836400	Weak transcription	Small Intestine	intestine
2	chr2:99803800-99829600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:99807000-99832600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr2:99814000-99834800	Weak transcription	Gastric	stomach
5	chr2:99814200-99832400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr2:99814400-99842200	Weak transcription	Ovary	ovary
7	chr2:99814400-99842800	Weak transcription	Colon Smooth Muscle	Colon
8	chr2:99814800-99840600	Weak transcription	Brain Hippocampus Middle	brain
9	chr2:99815000-99829000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:99815000-99834400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr2:99815000-99836400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr2:99815000-99840600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr2:99815000-99840800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr2:99815000-99841800	Weak transcription	Pancreas	Pancrea
15	chr2:99815000-99842400	Weak transcription	Fetal Lung	lung
16	chr2:99815200-99830400	Weak transcription	Brain Anterior Caudate	brain
17	chr2:99815200-99833200	Weak transcription	Lung	lung
18	chr2:99815200-99838400	Weak transcription	Adipose Nuclei	Adipose
19	chr2:99815200-99840600	Weak transcription	Aorta	Aorta
20	chr2:99815200-99841800	Weak transcription	Spleen	Spleen
21	chr2:99815200-99842000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr2:99815200-99842400	Weak transcription	Brain Substantia Nigra	brain
23	chr2:99815400-99834400	Weak transcription	NHEK	skin
24	chr2:99815400-99834600	Weak transcription	Duodenum Mucosa	Duodenum
25	chr2:99815600-99834400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr2:99815600-99834800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:99815600-99842000	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr2:99815600-99842200	Weak transcription	Fetal Stomach	stomach
29	chr2:99815600-99843400	Weak transcription	Fetal Brain Female	brain
30	chr2:99818200-99854600	Weak transcription	Left Ventricle	heart
31	chr2:99818400-99830400	Weak transcription	A549	lung
32	chr2:99818400-99836400	Weak transcription	Brain Angular Gyrus	brain
33	chr2:99818600-99842200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:99818800-99843600	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr2:99819000-99843200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr2:99822200-99830000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr2:99823200-99830800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr2:99823400-99829400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr2:99825200-99843200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr2:99825400-99841800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr2:99826400-99834400	Weak transcription	Fetal Intestine Small	intestine
42	chr2:99827600-99832600	Strong transcription	Stomach Smooth Muscle	stomach
43	chr2:99827600-99842800	Weak transcription	Fetal Brain Male	brain
44	chr2:99828000-99837400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:99828200-99832000	Weak transcription	Brain Germinal Matrix	brain
46	chr2:99828200-99835600	Weak transcription	HepG2	liver
47	chr2:99828600-99839400	Weak transcription	Primary T cells from cord blood	blood

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