Variant report

Variant	rs73965729
Chromosome Location	chr2:142368612-142368613
allele	A/G
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: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10169343	1.00[AMR][1000 genomes]
rs56105167	0.93[AFR][1000 genomes]
rs57694809	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59843588	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60909126	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6714661	1.00[AMR][1000 genomes]
rs6715233	1.00[AMR][1000 genomes]
rs6729105	1.00[AMR][1000 genomes]
rs6732315	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6732675	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963380	1.00[AMR][1000 genomes]
rs73963381	1.00[AMR][1000 genomes]
rs73963402	1.00[AMR][1000 genomes]
rs73965705	1.00[AMR][1000 genomes]
rs73965724	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73965725	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73965727	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73965728	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7571949	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7579724	1.00[AMR][1000 genomes]
rs7592197	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7593653	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:34 , 50 per page) page: 1

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

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