Variant report

Variant	rs544678659
Chromosome Location	chr2:153309823-153309824
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	chr2:153301457..153305742-chr2:153308329..153310586,3	K562	blood:

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	nsv834419	chr2:153179420-153381476	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	esv3693436	chr2:153219836-153479857	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv875291	chr2:153251742-153339823	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1013777	chr2:153273637-153538546	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	esv2754362	chr2:153297577-153366129	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv875292	chr2:153308471-153357383	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153295400-153311000	Weak transcription	Ovary	ovary
2	chr2:153300600-153311200	Weak transcription	Lung	lung
3	chr2:153301000-153314200	Weak transcription	Placenta	Placenta
4	chr2:153301600-153311200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:153301800-153321000	Weak transcription	Right Atrium	heart
6	chr2:153302400-153312400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:153302400-153321600	Weak transcription	Left Ventricle	heart
8	chr2:153302800-153311200	Weak transcription	Colon Smooth Muscle	Colon
9	chr2:153302800-153314800	Weak transcription	Aorta	Aorta
10	chr2:153303000-153312600	Weak transcription	Hela-S3	cervix
11	chr2:153303400-153311200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr2:153303400-153322600	Weak transcription	NHLF	lung
13	chr2:153303600-153311000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:153303600-153312000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:153304400-153312400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:153304400-153321800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr2:153304600-153312000	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr2:153305200-153312000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:153305200-153312200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:153305200-153312400	Weak transcription	HMEC	breast
21	chr2:153305600-153321800	Weak transcription	Fetal Intestine Small	intestine
22	chr2:153306200-153319800	Weak transcription	Psoas Muscle	Psoas
23	chr2:153306200-153320200	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr2:153307000-153310200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr2:153307600-153313200	Enhancers	HepG2	liver
26	chr2:153307800-153310600	Enhancers	Fetal Brain Female	brain
27	chr2:153308400-153310400	Enhancers	NH-A	brain
28	chr2:153308600-153311400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:153308600-153311800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:153308800-153310400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr2:153308800-153310400	Enhancers	Adipose Nuclei	Adipose
32	chr2:153308800-153310400	Enhancers	Fetal Brain Male	brain
33	chr2:153308800-153312400	Weak transcription	NHEK	skin
34	chr2:153309000-153310200	Active TSS	H9 Cell Line	embryonic stem cell
35	chr2:153309200-153310000	Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr2:153309200-153310400	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr2:153309400-153310000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:153309400-153310000	Active TSS	Brain Cingulate Gyrus	brain
39	chr2:153309400-153310200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr2:153309400-153310200	Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr2:153309400-153310200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr2:153309400-153310200	Active TSS	Brain Anterior Caudate	brain
43	chr2:153309400-153310200	Enhancers	Brain Substantia Nigra	brain
44	chr2:153309400-153311800	Enhancers	H1 Cell Line	embryonic stem cell
45	chr2:153309400-153312600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr2:153309400-153321600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr2:153309400-153323600	Enhancers	Brain Angular Gyrus	brain
48	chr2:153309600-153310000	Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr2:153309600-153310000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr2:153309600-153310000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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