Variant report

Variant	rs570318933
Chromosome Location	chr2:74230549-74230550
allele	-/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:74153966..74155499-chr2:74229025..74232283,3	K562	blood:
2	chr2:74230315..74232342-chr2:74308990..74310979,2	K562	blood:
3	chr2:74229598..74231793-chr2:74423826..74425705,2	MCF-7	breast:
4	chr2:74153007..74155466-chr2:74228011..74231907,5	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TET3-3	chr2:74229333-74230678	ucscGeneNc_uc002ske_2

Variant related genes	Relation type
ENSG00000114956	Chromatin interaction
ENSG00000065911	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011177	chr2:74167343-74239905	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	esv3584956	chr2:74197109-74317135	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv818048	chr2:74225434-74313080	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv3436825	chr2:74228469-74231017	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv3394982	chr2:74229169-74232017	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74226200-74232400	Weak transcription	Hela-S3	cervix
2	chr2:74228800-74231000	Weak transcription	Small Intestine	intestine
3	chr2:74228800-74231200	Active TSS	Psoas Muscle	Psoas
4	chr2:74229200-74230600	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr2:74229200-74230600	Flanking Active TSS	Stomach Smooth Muscle	stomach
6	chr2:74229200-74230800	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr2:74229200-74231000	Active TSS	H9 Cell Line	embryonic stem cell
8	chr2:74229200-74231000	Active TSS	Brain Cingulate Gyrus	brain
9	chr2:74229200-74231000	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr2:74229400-74230600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr2:74229400-74230600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr2:74229400-74230600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr2:74229400-74230600	Active TSS	Aorta	Aorta
14	chr2:74229400-74230600	Active TSS	Left Ventricle	heart
15	chr2:74229400-74230600	Active TSS	NHDF-Ad	bronchial
16	chr2:74229400-74230800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr2:74229400-74230800	Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr2:74229400-74230800	Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr2:74229400-74230800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:74229400-74230800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:74229400-74230800	Active TSS	Brain Hippocampus Middle	brain
22	chr2:74229400-74230800	Active TSS	Fetal Lung	lung
23	chr2:74229400-74230800	Active TSS	NHLF	lung
24	chr2:74229400-74231000	Active TSS	H1 Cell Line	embryonic stem cell
25	chr2:74229400-74231000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:74229400-74231000	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr2:74229400-74231000	Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr2:74229400-74231000	Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr2:74229400-74231000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:74229400-74231000	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr2:74229400-74231000	Active TSS	Brain Angular Gyrus	brain
32	chr2:74229400-74231000	Active TSS	Brain Anterior Caudate	brain
33	chr2:74229400-74231000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr2:74229400-74231000	Active TSS	Brain Substantia Nigra	brain
35	chr2:74229400-74231000	Active TSS	Ovary	ovary
36	chr2:74229400-74231000	Active TSS	K562	blood
37	chr2:74229400-74231200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr2:74229400-74231200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:74229600-74230600	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr2:74229600-74230600	Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr2:74229600-74230600	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr2:74229600-74230600	Flanking Active TSS	HMEC	breast
43	chr2:74229600-74230800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr2:74229600-74231000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr2:74229600-74231000	Active TSS	HSMMtube	muscle
46	chr2:74229600-74231200	Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr2:74229800-74230600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr2:74229800-74230800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr2:74230000-74230600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr2:74230000-74230600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

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