Variant report

Variant	rs544794562
Chromosome Location	chr2:72604588-72604589
allele	A/T
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	nsv963919	chr2:72372956-72830387	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1005487	chr2:72464784-72819704	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv999179	chr2:72561463-72761103	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1008335	chr2:72561463-72819704	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv3429281	chr2:72590346-72623676	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv874264	chr2:72593243-72901170	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv2773	chr2:72603908-72649311	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72559200-72607400	Weak transcription	Liver	Liver
2	chr2:72572200-72607200	Weak transcription	Psoas Muscle	Psoas
3	chr2:72576600-72605200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr2:72578000-72606400	Weak transcription	HSMM	muscle
5	chr2:72580200-72605200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr2:72581600-72607800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr2:72582600-72605400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:72592600-72613400	Weak transcription	Gastric	stomach
9	chr2:72594200-72608400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr2:72594400-72607200	Weak transcription	Brain Substantia Nigra	brain
11	chr2:72595000-72605200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:72595000-72613400	Weak transcription	Aorta	Aorta
13	chr2:72595000-72613600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:72595200-72605400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr2:72595200-72606800	Weak transcription	Lung	lung
16	chr2:72595200-72608600	Weak transcription	NHEK	skin
17	chr2:72595200-72613400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:72595200-72613400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:72595200-72613400	Weak transcription	Fetal Stomach	stomach
20	chr2:72595200-72613400	Weak transcription	Pancreas	Pancrea
21	chr2:72595200-72613400	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr2:72595200-72613600	Weak transcription	Right Ventricle	heart
23	chr2:72595400-72613200	Weak transcription	Left Ventricle	heart
24	chr2:72595400-72613400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:72597200-72607000	Weak transcription	Fetal Brain Male	brain
26	chr2:72597400-72605200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr2:72597800-72606800	Weak transcription	Esophagus	oesophagus
28	chr2:72598000-72605200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr2:72598800-72605400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr2:72599200-72605400	Weak transcription	Brain Cingulate Gyrus	brain
31	chr2:72599600-72605400	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr2:72599600-72613400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr2:72599800-72605600	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr2:72600000-72613400	Weak transcription	Ovary	ovary
35	chr2:72600200-72604600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr2:72600200-72605000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr2:72601200-72605200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:72601200-72613400	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr2:72601400-72605400	Weak transcription	Brain Anterior Caudate	brain
40	chr2:72601600-72605200	Weak transcription	Stomach Smooth Muscle	stomach
41	chr2:72601800-72604600	Weak transcription	Adipose Nuclei	Adipose
42	chr2:72601800-72605200	Weak transcription	Fetal Intestine Large	intestine
43	chr2:72602000-72606600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr2:72602400-72608600	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr2:72602800-72605000	Weak transcription	Primary hematopoietic stem cells	blood
46	chr2:72602800-72605400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:72603200-72604800	Weak transcription	Brain Angular Gyrus	brain
48	chr2:72603200-72605400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr2:72603200-72606800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr2:72603600-72604800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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