Variant report

Variant	rs2594549
Chromosome Location	chr3:81785355-81785356
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:81776433..81778191-chr3:81783098..81785714,2	K562	blood:
2	chr3:81784646..81786300-chr3:81807469..81810192,2	MCF-7	breast:
3	chr3:81784885..81787664-chr3:81810535..81812147,2	K562	blood:

Variant related genes	Relation type
ENSG00000114480	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11127737	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1155277	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1375086	0.96[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1972976	0.81[EUR][1000 genomes]
rs2594547	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2594551	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2594553	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2594558	0.84[AMR][1000 genomes]
rs2594562	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes]
rs2680245	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes]
rs2680246	0.84[AMR][1000 genomes]
rs2680257	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2680260	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2680264	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2680277	0.96[CEU][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes]
rs2680280	1.00[CEU][hapmap];0.88[JPT][hapmap]
rs2691093	0.96[CEU][hapmap]
rs3107240	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3772889	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3772899	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs3772902	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs6771266	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6803932	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes]
rs7648237	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9309876	0.84[EUR][1000 genomes]
rs9818090	0.96[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[EUR][1000 genomes]
rs9838088	0.82[EUR][1000 genomes]
rs9852545	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9860805	0.96[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.88[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:45 , 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	chr3:81776400-81789400	Weak transcription	HSMMtube	muscle
6	chr3:81778600-81789600	Weak transcription	Aorta	Aorta
7	chr3:81778600-81789600	Weak transcription	HSMM	muscle
8	chr3:81779000-81790000	Weak transcription	HUVEC	blood vessel
9	chr3:81779200-81789200	Weak transcription	Right Ventricle	heart
10	chr3:81779200-81789600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr3:81779200-81791200	Weak transcription	Liver	Liver
12	chr3:81779400-81789600	Weak transcription	NHLF	lung
13	chr3:81781000-81792200	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr3:81781000-81809400	Weak transcription	Primary B cells from peripheral blood	blood
15	chr3:81781800-81786200	Enhancers	A549	lung
16	chr3:81782200-81800400	Weak transcription	Primary B cells from cord blood	blood
17	chr3:81782400-81800200	Weak transcription	Left Ventricle	heart
18	chr3:81782800-81787800	Weak transcription	GM12878-XiMat	blood
19	chr3:81782800-81791200	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr3:81782800-81796600	Weak transcription	Right Atrium	heart
21	chr3:81783000-81785800	Enhancers	NHEK	skin
22	chr3:81783000-81789600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr3:81783400-81786200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr3:81783600-81785400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr3:81783600-81785800	Enhancers	HMEC	breast
26	chr3:81783600-81786000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr3:81783600-81786200	Enhancers	Hela-S3	cervix
28	chr3:81783800-81785800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr3:81783800-81785800	Enhancers	Psoas Muscle	Psoas
30	chr3:81784000-81786000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr3:81784000-81789600	Weak transcription	NHDF-Ad	bronchial
32	chr3:81784200-81785600	Genic enhancers	Dnd41	blood
33	chr3:81784400-81785400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr3:81784400-81785400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr3:81784400-81785800	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr3:81784400-81785800	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr3:81784400-81786200	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr3:81784600-81785400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr3:81784600-81791000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr3:81784800-81789600	Weak transcription	Osteobl	bone
41	chr3:81784800-81792800	Weak transcription	HepG2	liver
42	chr3:81785200-81785400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr3:81785200-81785600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr3:81785200-81789600	Weak transcription	Adipose Nuclei	Adipose
45	chr3:81785200-81793000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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