Variant report

Variant	rs2680243
Chromosome Location	chr3:81789817-81789818
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:81789146..81795604-chr3:81809193..81811958,7	MCF-7	breast:
2	chr3:81788513..81790945-chr3:81793476..81795825,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000114480	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs2594550	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs2594563	1.00[YRI][hapmap]
rs2680244	1.00[YRI][hapmap]
rs2680248	1.00[YRI][hapmap]
rs2680250	1.00[YRI][hapmap]
rs2680252	0.83[YRI][hapmap]
rs2680266	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs2680269	1.00[YRI][hapmap]
rs2680270	1.00[YRI][hapmap]
rs4398458	0.83[AFR][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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:81727200-81792200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr3:81766600-81791200	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr3:81773200-81792200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr3:81776000-81807400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:81779000-81790000	Weak transcription	HUVEC	blood vessel
6	chr3:81779200-81791200	Weak transcription	Liver	Liver
7	chr3:81781000-81792200	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr3:81781000-81809400	Weak transcription	Primary B cells from peripheral blood	blood
9	chr3:81782200-81800400	Weak transcription	Primary B cells from cord blood	blood
10	chr3:81782400-81800200	Weak transcription	Left Ventricle	heart
11	chr3:81782800-81791200	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr3:81782800-81796600	Weak transcription	Right Atrium	heart
13	chr3:81784600-81791000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr3:81784800-81792800	Weak transcription	HepG2	liver
15	chr3:81785200-81793000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr3:81785400-81790000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr3:81785600-81793000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr3:81785800-81790600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr3:81785800-81791200	Weak transcription	HMEC	breast
20	chr3:81785800-81791200	Weak transcription	NHEK	skin
21	chr3:81785800-81791400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr3:81785800-81791600	Weak transcription	Psoas Muscle	Psoas
23	chr3:81786000-81791800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr3:81786200-81791200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr3:81788600-81792600	Strong transcription	Dnd41	blood
26	chr3:81788800-81790000	Weak transcription	GM12878-XiMat	blood
27	chr3:81789000-81792200	Weak transcription	Fetal Lung	lung
28	chr3:81789200-81790000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr3:81789200-81790000	Enhancers	Right Ventricle	heart
30	chr3:81789200-81794400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr3:81789600-81790200	Enhancers	Muscle Satellite Cultured Cells	--
32	chr3:81789600-81790600	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr3:81789600-81790600	Enhancers	HSMM	muscle
34	chr3:81789600-81790800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr3:81789600-81790800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr3:81789600-81790800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr3:81789600-81790800	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr3:81789600-81790800	Flanking Active TSS	HSMMtube	muscle
39	chr3:81789600-81791200	Enhancers	A549	lung
40	chr3:81789600-81791600	Enhancers	NHLF	lung
41	chr3:81789600-81791800	Enhancers	NHDF-Ad	bronchial
42	chr3:81789600-81791800	Enhancers	Osteobl	bone
43	chr3:81789600-81793600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr3:81789600-81794400	Enhancers	Fetal Heart	heart
45	chr3:81789600-81794600	Enhancers	Hela-S3	cervix
46	chr3:81789600-81794800	Enhancers	Adipose Nuclei	Adipose
47	chr3:81789800-81790000	Weak transcription	Aorta	Aorta
48	chr3:81789800-81790400	Enhancers	Fetal Brain Male	brain
49	chr3:81789800-81791600	Enhancers	NH-A	brain

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