Variant report

Variant	rs2980377
Chromosome Location	chr8:35185321-35185322
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10093227	0.81[EUR][1000 genomes]
rs10107742	0.81[EUR][1000 genomes]
rs12216854	0.91[EUR][1000 genomes]
rs1406377	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1406378	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1528711	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1528713	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1528714	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1528715	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1534583	0.90[EUR][1000 genomes]
rs1534585	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1590094	0.90[EUR][1000 genomes]
rs1590095	0.90[EUR][1000 genomes]
rs1830397	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1919335	0.91[EUR][1000 genomes]
rs1919340	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1919342	0.91[EUR][1000 genomes]
rs1919343	0.91[EUR][1000 genomes]
rs1919350	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1919351	0.90[EUR][1000 genomes]
rs1919353	0.90[EUR][1000 genomes]
rs1969543	0.87[EUR][1000 genomes]
rs1997313	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1997314	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1997315	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2037839	0.90[EUR][1000 genomes]
rs2056768	0.91[EUR][1000 genomes]
rs2091566	0.90[EUR][1000 genomes]
rs2141432	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2178255	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2178257	0.90[EUR][1000 genomes]
rs2950896	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2950899	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2950900	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2950902	0.91[EUR][1000 genomes]
rs2950906	0.90[EUR][1000 genomes]
rs2950907	0.91[EUR][1000 genomes]
rs2950908	0.90[EUR][1000 genomes]
rs2950911	0.90[EUR][1000 genomes]
rs2950912	0.90[EUR][1000 genomes]
rs2950913	0.90[EUR][1000 genomes]
rs2950914	0.90[EUR][1000 genomes]
rs2950915	0.84[EUR][1000 genomes]
rs2950919	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2950921	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2950923	0.89[EUR][1000 genomes]
rs2950926	0.90[EUR][1000 genomes]
rs2950932	0.90[EUR][1000 genomes]
rs2980379	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2980381	0.90[EUR][1000 genomes]
rs2980382	0.90[EUR][1000 genomes]
rs2980383	0.90[EUR][1000 genomes]
rs2980384	0.90[EUR][1000 genomes]
rs2980385	0.90[EUR][1000 genomes]
rs2980387	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2980388	0.82[EUR][1000 genomes]
rs2980392	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2980393	0.90[EUR][1000 genomes]
rs2980394	0.90[EUR][1000 genomes]
rs2980395	0.90[EUR][1000 genomes]
rs2980396	0.91[EUR][1000 genomes]
rs2980399	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2980401	0.91[EUR][1000 genomes]
rs2980402	0.91[EUR][1000 genomes]
rs2980405	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2980407	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3108616	0.92[EUR][1000 genomes]
rs3108618	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3108621	0.91[EUR][1000 genomes]
rs3108626	0.91[EUR][1000 genomes]
rs3115001	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4341159	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4582555	0.90[EUR][1000 genomes]
rs4606056	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4739301	0.91[EUR][1000 genomes]
rs4739401	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6468312	0.90[EUR][1000 genomes]
rs6468314	0.91[EUR][1000 genomes]
rs67434887	0.93[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs6996861	0.90[EUR][1000 genomes]
rs7003669	0.91[EUR][1000 genomes]
rs7830166	0.89[EUR][1000 genomes]
rs7832774	0.90[EUR][1000 genomes]
rs876115	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][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	nsv1017085	chr8:34742896-35594241	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv539546	chr8:34742896-35594241	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv831284	chr8:35018419-35193084	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv429910	chr8:35021411-35257445	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv520421	chr8:35155517-35479468	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv890717	chr8:35184361-35315188	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:35182800-35186400	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr8:35182800-35188000	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr8:35183000-35186400	Enhancers	Fetal Kidney	kidney
4	chr8:35183200-35185400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:35183200-35185600	Enhancers	H9 Cell Line	embryonic stem cell
6	chr8:35183600-35185400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:35183800-35185400	Enhancers	Fetal Muscle Leg	muscle
8	chr8:35183800-35185600	Enhancers	H1 Cell Line	embryonic stem cell
9	chr8:35183800-35185600	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr8:35184000-35185400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr8:35184000-35185600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr8:35184400-35185400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr8:35184400-35185400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr8:35184400-35185600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:35184400-35185600	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr8:35184400-35185600	Enhancers	HSMMtube	muscle
17	chr8:35184400-35186000	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr8:35184600-35185400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr8:35184600-35185400	Enhancers	Muscle Satellite Cultured Cells	--
20	chr8:35184800-35185600	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr8:35184800-35185600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr8:35185000-35187400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:35185200-35185400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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