Variant report

Variant	rs73308284
Chromosome Location	chr7:40609745-40609746
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1000013	0.92[EUR][1000 genomes]
rs1019018	0.90[EUR][1000 genomes]
rs10254954	0.86[EUR][1000 genomes]
rs10263677	0.95[EUR][1000 genomes]
rs10486810	0.89[EUR][1000 genomes]
rs11974322	0.89[EUR][1000 genomes]
rs11980464	0.90[EUR][1000 genomes]
rs11982075	0.92[EUR][1000 genomes]
rs17171727	0.92[EUR][1000 genomes]
rs17171734	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1859660	0.90[EUR][1000 genomes]
rs2329818	0.95[EUR][1000 genomes]
rs2329819	0.89[EUR][1000 genomes]
rs28657711	0.91[EUR][1000 genomes]
rs34523428	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3919491	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4720368	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4720370	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4720371	0.89[EUR][1000 genomes]
rs4723966	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4723967	0.86[EUR][1000 genomes]
rs4723968	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4723969	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4723970	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4723972	0.90[EUR][1000 genomes]
rs57268522	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs60011074	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60999211	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6462985	0.92[EUR][1000 genomes]
rs66582232	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs66743443	1.00[ASN][1000 genomes]
rs67081175	0.81[AFR][1000 genomes]
rs67156695	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs67309967	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs68082095	1.00[ASN][1000 genomes]
rs6943787	0.94[EUR][1000 genomes]
rs6945570	0.86[EUR][1000 genomes]
rs6962853	1.00[ASN][1000 genomes]
rs6977104	0.86[EUR][1000 genomes]
rs73308254	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73308257	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73308260	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73308263	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73308264	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73308269	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73308281	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73308289	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73308291	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73308300	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73310208	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7808612	0.92[EUR][1000 genomes]
rs917204	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030648	chr7:40218618-41032599	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1030515	chr7:40501867-40634808	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv887987	chr7:40505382-40748650	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv830971	chr7:40523075-40700172	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40607000-40609800	Weak transcription	HSMM	muscle
2	chr7:40607200-40611400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr7:40608400-40610400	Enhancers	Aorta	Aorta
4	chr7:40608600-40610400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr7:40608600-40610600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr7:40608600-40610600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr7:40608600-40610600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr7:40608800-40610000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:40608800-40612000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr7:40609000-40611400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr7:40609000-40611400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr7:40609000-40611600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr7:40609000-40611800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:40609200-40610000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr7:40609200-40610400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr7:40609200-40612000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:40609400-40610400	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr7:40609600-40610200	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr7:40609600-40610400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:40609600-40610400	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr7:40609600-40610400	Enhancers	HSMMtube	muscle
22	chr7:40609600-40610600	Enhancers	Fetal Heart	heart
23	chr7:40609600-40610800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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