Variant report

Variant	rs528695730
Chromosome Location	chr2:112896824-112896825
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:112896674..112899558-chr2:113471538..113473155,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874863	chr2:112591224-113157344	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv874864	chr2:112617280-113104142	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv874865	chr2:112623098-113049274	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	nsv1013218	chr2:112645633-112908416	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv1014787	chr2:112679182-112908416	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv535893	chr2:112679182-112908416	Strong transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	esv3422414	chr2:112883450-113200285	Strong transcription Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	esv14942	chr2:112895791-112898036	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv1808561	chr2:112896573-112898163	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv1848311	chr2:112896573-112898163	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112895200-112897000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:112895200-112898200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:112895400-112897000	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr2:112895400-112898600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
5	chr2:112895400-112898600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr2:112895600-112898600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr2:112895600-112898600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:112895600-112898800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
9	chr2:112895800-112897000	Bivalent/Poised TSS	Fetal Stomach	stomach
10	chr2:112895800-112897600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:112895800-112897800	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr2:112895800-112897800	Active TSS	Fetal Muscle Leg	muscle
13	chr2:112895800-112897800	Active TSS	Placenta	Placenta
14	chr2:112895800-112898200	Active TSS	Osteobl	bone
15	chr2:112895800-112898400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
16	chr2:112895800-112898400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:112895800-112898400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:112895800-112898600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
19	chr2:112895800-112898600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
20	chr2:112895800-112898600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:112896000-112897000	Bivalent/Poised TSS	Colonic Mucosa	Colon
22	chr2:112896000-112897800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:112896000-112897800	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr2:112896000-112897800	Active TSS	Cortex derived primary cultured neurospheres	brain
25	chr2:112896000-112898000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:112896000-112898400	Active TSS	Right Ventricle	heart
27	chr2:112896200-112897000	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr2:112896400-112897800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr2:112896400-112897800	Active TSS	Brain Germinal Matrix	brain
30	chr2:112896400-112897800	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr2:112896400-112897800	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
32	chr2:112896400-112897800	Weak transcription	Fetal Kidney	kidney
33	chr2:112896400-112897800	Active TSS	Fetal Muscle Trunk	muscle
34	chr2:112896400-112898000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:112896400-112898000	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr2:112896400-112934600	Weak transcription	Aorta	Aorta
37	chr2:112896600-112897000	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr2:112896600-112897600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr2:112896600-112897800	Weak transcription	Brain Anterior Caudate	brain
40	chr2:112896600-112897800	Weak transcription	Brain Hippocampus Middle	brain
41	chr2:112896600-112897800	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr2:112896600-112897800	Weak transcription	Left Ventricle	heart
43	chr2:112896600-112897800	Weak transcription	Lung	lung
44	chr2:112896600-112897800	Weak transcription	Right Atrium	heart
45	chr2:112896600-112898000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr2:112896800-112897400	Weak transcription	Gastric	stomach
47	chr2:112896800-112897600	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr2:112896800-112897600	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr2:112896800-112897800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr2:112896800-112897800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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