Variant report

Variant	rs73965730
Chromosome Location	chr2:142369082-142369083
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:142267530..142270120-chr2:142367084..142369508,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs56238953	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73965707	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73965708	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73965709	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73965712	0.89[AFR][1000 genomes]
rs73965713	0.93[AFR][1000 genomes]
rs73965715	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73965716	0.96[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	nsv583203	chr2:142055133-142378975	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv834393	chr2:142256714-142431564	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
3	nsv583214	chr2:142299923-142458316	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
4	nsv1011019	chr2:142314999-142430460	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
5	nsv875244	chr2:142336104-142421500	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
6	nsv875245	chr2:142336104-142421500	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142366800-142369600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:142368000-142369800	Enhancers	H1 Cell Line	embryonic stem cell
3	chr2:142368200-142369200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr2:142368200-142369600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:142368200-142369800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:142368200-142369800	Enhancers	Brain Anterior Caudate	brain
7	chr2:142368200-142370200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:142368200-142370400	Enhancers	Muscle Satellite Cultured Cells	--
9	chr2:142368400-142369200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr2:142368400-142369200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr2:142368400-142369400	Enhancers	Fetal Lung	lung
12	chr2:142368400-142369600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:142368400-142369600	Flanking Active TSS	HUVEC	blood vessel
14	chr2:142368400-142369800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:142368600-142369200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:142368600-142369200	Flanking Active TSS	Hela-S3	cervix
17	chr2:142368600-142369600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr2:142368600-142369600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr2:142368600-142369800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:142368600-142370000	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr2:142368800-142369200	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr2:142368800-142369200	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr2:142368800-142369400	Enhancers	Fetal Heart	heart
24	chr2:142368800-142369600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr2:142368800-142369600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:142368800-142370000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr2:142369000-142369200	Enhancers	H9 Cell Line	embryonic stem cell
28	chr2:142369000-142369200	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr2:142369000-142369200	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr2:142369000-142369400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr2:142369000-142369400	Active TSS	NH-A	brain
32	chr2:142369000-142369600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr2:142369000-142369600	Enhancers	Brain Cingulate Gyrus	brain
34	chr2:142369000-142369800	Enhancers	Dnd41	blood
35	chr2:142369000-142370000	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr2:142369000-142370400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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