Variant report

Variant	rs73002280
Chromosome Location	chr2:153312515-153312516
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs73002268	0.94[AFR][1000 genomes]
rs73016021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73016030	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73016035	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7562904	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7600425	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

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:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153301000-153314200	Weak transcription	Placenta	Placenta
2	chr2:153301800-153321000	Weak transcription	Right Atrium	heart
3	chr2:153302400-153321600	Weak transcription	Left Ventricle	heart
4	chr2:153302800-153314800	Weak transcription	Aorta	Aorta
5	chr2:153303000-153312600	Weak transcription	Hela-S3	cervix
6	chr2:153303400-153322600	Weak transcription	NHLF	lung
7	chr2:153304400-153321800	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr2:153305600-153321800	Weak transcription	Fetal Intestine Small	intestine
9	chr2:153306200-153319800	Weak transcription	Psoas Muscle	Psoas
10	chr2:153306200-153320200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr2:153307600-153313200	Enhancers	HepG2	liver
12	chr2:153309400-153312600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr2:153309400-153321600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:153309400-153323600	Enhancers	Brain Angular Gyrus	brain
15	chr2:153309600-153312600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:153309600-153312600	Weak transcription	A549	lung
17	chr2:153309600-153313200	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr2:153310400-153312600	Enhancers	Brain Anterior Caudate	brain
19	chr2:153310400-153312800	Weak transcription	NH-A	brain
20	chr2:153310400-153313200	Enhancers	Brain Hippocampus Middle	brain
21	chr2:153310400-153313400	Enhancers	Brain Cingulate Gyrus	brain
22	chr2:153310400-153314000	Weak transcription	Adipose Nuclei	Adipose
23	chr2:153310400-153317000	Enhancers	Brain Substantia Nigra	brain
24	chr2:153310400-153318400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:153310600-153312600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr2:153310600-153313000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:153311400-153312800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr2:153311400-153313800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr2:153311600-153312600	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr2:153311600-153318600	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr2:153311800-153312800	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr2:153311800-153312800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr2:153311800-153312800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr2:153311800-153321600	Weak transcription	Lung	lung
35	chr2:153312000-153313200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr2:153312000-153315600	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr2:153312000-153315600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr2:153312000-153317000	Weak transcription	Ovary	ovary
39	chr2:153312000-153318800	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr2:153312000-153320400	Weak transcription	Fetal Brain Male	brain
41	chr2:153312000-153321400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr2:153312200-153312600	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr2:153312200-153312600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr2:153312200-153313200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr2:153312400-153312600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr2:153312400-153312800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr2:153312400-153312800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr2:153312400-153313000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr2:153312400-153313000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr2:153312400-153313000	Enhancers	HMEC	breast

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