Variant report

Variant	rs528753163
Chromosome Location	chr2:73830891-73830892
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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	nsv428051	chr2:73717032-74030067	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv2757806	chr2:73717032-74078592	Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer 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	36 gene(s)	inside rSNPs	diseases
3	esv2759060	chr2:73717032-74078592	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv874267	chr2:73717656-73857002	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv1013385	chr2:73822056-74041441	Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv961795	chr2:73830604-73834098	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73765800-73837800	Weak transcription	Fetal Brain Male	brain
2	chr2:73785400-73838200	Weak transcription	Psoas Muscle	Psoas
3	chr2:73801000-73844000	Weak transcription	Fetal Kidney	kidney
4	chr2:73815600-73836000	Weak transcription	A549	lung
5	chr2:73822000-73838800	Weak transcription	Fetal Heart	heart
6	chr2:73822600-73833400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:73822600-73840800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:73823000-73844600	Weak transcription	Primary B cells from cord blood	blood
9	chr2:73825400-73833600	Weak transcription	Esophagus	oesophagus
10	chr2:73826000-73832200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:73826000-73841200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr2:73826200-73833200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr2:73826200-73841400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr2:73826600-73839200	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr2:73826800-73832600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:73826800-73838800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:73827000-73840600	Weak transcription	NHLF	lung
18	chr2:73827200-73831200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:73827200-73831600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr2:73827200-73837200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:73827400-73836400	Strong transcription	Primary T cells from cord blood	blood
22	chr2:73827600-73831800	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr2:73827600-73832400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr2:73827600-73837400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:73827600-73838200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:73827600-73839200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:73827800-73831000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr2:73827800-73831000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr2:73827800-73831000	Strong transcription	Brain Cingulate Gyrus	brain
30	chr2:73827800-73831000	Strong transcription	Brain Hippocampus Middle	brain
31	chr2:73827800-73831000	Strong transcription	Fetal Stomach	stomach
32	chr2:73827800-73832200	Strong transcription	Fetal Intestine Large	intestine
33	chr2:73827800-73832200	Strong transcription	Left Ventricle	heart
34	chr2:73827800-73832200	Strong transcription	Dnd41	blood
35	chr2:73827800-73840400	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr2:73828000-73831000	Strong transcription	Fetal Muscle Trunk	muscle
37	chr2:73828000-73831000	Strong transcription	Ovary	ovary
38	chr2:73828000-73832400	Strong transcription	Adipose Nuclei	Adipose
39	chr2:73828200-73831000	Strong transcription	Brain Substantia Nigra	brain
40	chr2:73828200-73831000	Strong transcription	Fetal Intestine Small	intestine
41	chr2:73828200-73831200	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr2:73828400-73831000	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr2:73828400-73831200	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr2:73828400-73832200	Strong transcription	Fetal Lung	lung
45	chr2:73828400-73832400	Weak transcription	Small Intestine	intestine
46	chr2:73828600-73831000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr2:73828800-73837800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr2:73829000-73831200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr2:73829000-73837600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr2:73829000-73839000	Weak transcription	NHDF-Ad	bronchial

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