Variant report

Variant	rs2680277
Chromosome Location	chr3:81812406-81812407
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:81809125-81813460	GM12878	blood:	n/a	n/a
2	POLR2A	chr3:81812053-81812560	GM12891	blood:	n/a	n/a
3	POLR2A	chr3:81809196-81812982	GM12891	blood:	n/a	n/a
4	POLR2A	chr3:81812046-81812465	GM12892	blood:	n/a	n/a
5	POLR2A	chr3:81812023-81812576	GM12878	blood:	n/a	n/a
6	POLR2A	chr3:81812072-81812545	GM12891	blood:	n/a	n/a
7	POLR2A	chr3:81808676-81812699	K562	blood:	n/a	n/a
8	BHLHE40	chr3:81811977-81812580	K562	blood:	n/a	n/a
9	POLR2A	chr3:81809619-81812556	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:81789819..81797196-chr3:81807650..81813820,9	K562	blood:

Variant related genes	Relation type
GBE1	TF binding region
ENSG00000114480	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1155277	0.96[CEU][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes]
rs12495343	0.84[EUR][1000 genomes]
rs12635671	0.83[EUR][1000 genomes]
rs1375086	0.91[CEU][hapmap];1.00[YRI][hapmap]
rs1404297	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1829967	0.88[EUR][1000 genomes]
rs1973800	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1973801	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1997002	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2244294	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2252530	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2594547	0.95[CEU][hapmap];0.82[AMR][1000 genomes]
rs2594549	0.96[CEU][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes]
rs2594551	0.95[CEU][hapmap];0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2594553	0.96[CEU][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes]
rs2594558	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2594562	0.95[CEU][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2680245	0.95[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2680246	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2680257	0.96[CEU][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes]
rs2680260	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2680264	0.81[AMR][1000 genomes]
rs2680274	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2680280	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2691077	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2691078	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2691079	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2691080	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2691083	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2691084	0.86[EUR][1000 genomes]
rs2691085	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2691089	0.90[EUR][1000 genomes]
rs2691093	0.91[CEU][hapmap];0.85[EUR][1000 genomes]
rs3107240	0.82[AMR][1000 genomes]
rs3772889	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3772899	0.91[CEU][hapmap]
rs3772902	0.91[CEU][hapmap]
rs6803932	0.95[CEU][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7611902	0.90[EUR][1000 genomes]
rs950904	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9818090	0.91[CEU][hapmap];1.00[YRI][hapmap]
rs9822266	0.90[EUR][1000 genomes]
rs9832088	0.87[EUR][1000 genomes]
rs9860204	0.90[EUR][1000 genomes]
rs9860805	0.91[CEU][hapmap]
rs9863009	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012133	chr3:81499082-81817471	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv949545	chr3:81523898-81893929	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1009607	chr3:81651419-81825151	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv536604	chr3:81651419-81825151	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv834749	chr3:81655377-81818880	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv999992	chr3:81693662-82015969	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv536605	chr3:81693662-82015969	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:81811200-81818200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:81811400-81813800	Weak transcription	Right Atrium	heart
3	chr3:81811400-81818200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr3:81811600-81812600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr3:81811600-81812600	Enhancers	Fetal Heart	heart
6	chr3:81811600-81812800	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr3:81811600-81813200	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr3:81811600-81813200	Enhancers	HepG2	liver
9	chr3:81811600-81814000	Enhancers	Psoas Muscle	Psoas
10	chr3:81811600-81814200	Weak transcription	HSMMtube	muscle
11	chr3:81811800-81812600	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr3:81811800-81812600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr3:81811800-81812600	Enhancers	Dnd41	blood
14	chr3:81811800-81812600	Enhancers	K562	blood
15	chr3:81811800-81812800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr3:81811800-81813000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr3:81811800-81813600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr3:81811800-81813600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr3:81811800-81814400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr3:81811800-81814800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr3:81811800-81818200	Weak transcription	Osteobl	bone
22	chr3:81811800-81818600	Weak transcription	NHEK	skin
23	chr3:81812000-81813600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr3:81812200-81813000	Enhancers	Left Ventricle	heart
25	chr3:81812200-81813200	Enhancers	Aorta	Aorta
26	chr3:81812200-81813400	Weak transcription	HSMM	muscle
27	chr3:81812200-81813600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr3:81812400-81812600	Enhancers	H1 Cell Line	embryonic stem cell
29	chr3:81812400-81812600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr3:81812400-81812600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr3:81812400-81813800	Weak transcription	Right Ventricle	heart
32	chr3:81812400-81813800	Weak transcription	Hela-S3	cervix
33	chr3:81812400-81814400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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