Variant report

Variant	rs542894920
Chromosome Location	chr2:53900155-53900156
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	chr2:53894424..53897447-chr2:53898122..53902216,4	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916267	chr2:53747525-53955999	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 lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv984439	chr2:53861720-53955437	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1003263	chr2:53863287-54055359	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv535720	chr2:53863287-54055359	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv1011449	chr2:53894529-53947781	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1009107	chr2:53896767-53946913	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1014949	chr2:53896767-53947781	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1011400	chr2:53899956-53947781	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53874200-53935000	Weak transcription	Pancreas	Pancrea
2	chr2:53881400-53934400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr2:53885600-53925000	Weak transcription	Fetal Intestine Small	intestine
4	chr2:53885800-53911800	Weak transcription	Adipose Nuclei	Adipose
5	chr2:53888200-53934200	Weak transcription	Lung	lung
6	chr2:53888400-53935200	Weak transcription	Fetal Brain Male	brain
7	chr2:53888600-53935200	Weak transcription	Hela-S3	cervix
8	chr2:53889000-53935800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:53892600-53902600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr2:53892600-53918800	Weak transcription	Left Ventricle	heart
11	chr2:53893400-53915200	Weak transcription	Ovary	ovary
12	chr2:53893800-53926800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr2:53894200-53920800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr2:53894400-53900400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:53894400-53912200	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr2:53894400-53914400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr2:53894400-53925000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr2:53894400-53933800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr2:53894600-53911200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr2:53895000-53900200	Weak transcription	Brain Substantia Nigra	brain
21	chr2:53895000-53911800	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr2:53895400-53919000	Weak transcription	Fetal Intestine Large	intestine
23	chr2:53895400-53921200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr2:53895400-53925800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:53895400-53926200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr2:53895600-53914800	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr2:53895600-53921400	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr2:53895800-53916800	Weak transcription	Brain Anterior Caudate	brain
29	chr2:53895800-53926200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:53896000-53913000	Weak transcription	Fetal Muscle Leg	muscle
31	chr2:53896000-53918800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr2:53896200-53911200	Weak transcription	Liver	Liver
33	chr2:53896200-53918400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr2:53896400-53926000	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr2:53896800-53900200	Weak transcription	NH-A	brain
36	chr2:53896800-53910200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr2:53896800-53910800	Weak transcription	Primary B cells from peripheral blood	blood
38	chr2:53896800-53918800	Weak transcription	Fetal Brain Female	brain
39	chr2:53896800-53924800	Weak transcription	Thymus	Thymus
40	chr2:53896800-53936600	Weak transcription	Aorta	Aorta
41	chr2:53897000-53910400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr2:53897000-53911400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr2:53897400-53900200	Weak transcription	K562	blood
44	chr2:53897400-53910200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr2:53897400-53910200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr2:53897400-53912000	Weak transcription	Primary hematopoietic stem cells	blood
47	chr2:53897600-53911600	Weak transcription	Dnd41	blood
48	chr2:53897800-53910800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr2:53897800-53911000	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr2:53897800-53911600	Weak transcription	Fetal Thymus	thymus

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