Variant report

Variant	rs545729509
Chromosome Location	chr2:74231050-74231051
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:74153966..74155499-chr2:74229025..74232283,3	K562	blood:
2	chr2:74225172..74227834-chr2:74230974..74232570,2	K562	blood:
3	chr2:74230315..74232342-chr2:74308990..74310979,2	K562	blood:
4	chr2:74229598..74231793-chr2:74423826..74425705,2	MCF-7	breast:
5	chr2:74230957..74233519-chr2:74346140..74348157,2	K562	blood:
6	chr2:74230663..74232784-chr2:74237198..74239379,3	K562	blood:
7	chr2:74153007..74155466-chr2:74228011..74231907,5	K562	blood:
8	chr2:74230868..74232942-chr2:74282306..74284674,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000065911	Chromatin interaction
ENSG00000257800	Chromatin interaction
ENSG00000114956	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 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	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:125 , 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	chr2:74228800-74231200	Active TSS	Psoas Muscle	Psoas
3	chr2:74229400-74231200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:74229400-74231200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:74229600-74231200	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr2:74230200-74231200	Enhancers	Lung	lung
7	chr2:74230200-74231800	Flanking Active TSS	Osteobl	bone
8	chr2:74230400-74231200	Enhancers	Primary B cells from peripheral blood	blood
9	chr2:74230400-74231200	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr2:74230400-74231200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
11	chr2:74230400-74231200	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr2:74230400-74231200	Enhancers	Esophagus	oesophagus
13	chr2:74230400-74231200	Active TSS	Right Ventricle	heart
14	chr2:74230400-74231200	Enhancers	GM12878-XiMat	blood
15	chr2:74230400-74231400	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr2:74230400-74231400	Enhancers	Colonic Mucosa	Colon
17	chr2:74230400-74231400	Enhancers	Pancreas	Pancrea
18	chr2:74230400-74231400	Weak transcription	Spleen	Spleen
19	chr2:74230400-74231600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:74230400-74231600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr2:74230400-74231600	Enhancers	Liver	Liver
22	chr2:74230400-74231600	Enhancers	A549	lung
23	chr2:74230400-74231800	Enhancers	Gastric	stomach
24	chr2:74230400-74232000	Enhancers	Primary T cells from cord blood	blood
25	chr2:74230400-74232000	Enhancers	Primary T cells fromperipheralblood	blood
26	chr2:74230400-74232000	Enhancers	Adipose Nuclei	Adipose
27	chr2:74230400-74232000	Enhancers	Stomach Mucosa	stomach
28	chr2:74230400-74236200	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr2:74230400-74246800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr2:74230600-74231200	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr2:74230600-74231200	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr2:74230600-74231200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr2:74230600-74231200	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr2:74230600-74231200	Enhancers	Fetal Thymus	thymus
35	chr2:74230600-74231200	Weak transcription	Left Ventricle	heart
36	chr2:74230600-74231200	Enhancers	Rectal Smooth Muscle	rectum
37	chr2:74230600-74231200	Weak transcription	Right Atrium	heart
38	chr2:74230600-74231200	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr2:74230600-74231400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr2:74230600-74231400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr2:74230600-74231400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr2:74230600-74231400	Enhancers	Colon Smooth Muscle	Colon
43	chr2:74230600-74231400	Weak transcription	Dnd41	blood
44	chr2:74230600-74231400	Enhancers	NHEK	skin
45	chr2:74230600-74231600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr2:74230600-74231600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr2:74230600-74231600	Enhancers	Fetal Heart	heart
48	chr2:74230600-74231600	Enhancers	Fetal Intestine Large	intestine
49	chr2:74230600-74231800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr2:74230600-74231800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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