Variant report

Variant	rs2680264
Chromosome Location	chr3:81779205-81779206
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:81778139..81780385-chr3:81790719..81793312,2	K562	blood:
2	chr3:81777151..81779498-chr3:81809848..81811917,2	MCF-7	breast:
3	chr3:81732567..81734878-chr3:81776708..81779542,2	K562	blood:
4	chr3:81764741..81766324-chr3:81777899..81782087,3	K562	blood:
5	chr3:81764741..81766324-chr3:81779093..81782087,2	K562	blood:
6	chr3:81771154..81772846-chr3:81777527..81780297,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000114480	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11127737	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1155277	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1375086	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1972976	0.80[EUR][1000 genomes]
rs2594547	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2594549	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2594551	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2594553	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2594558	0.81[AMR][1000 genomes]
rs2680245	0.81[AMR][1000 genomes]
rs2680246	0.81[AMR][1000 genomes]
rs2680257	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2680277	0.81[AMR][1000 genomes]
rs3107240	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3772889	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3772899	0.83[EUR][1000 genomes]
rs3772902	0.83[EUR][1000 genomes]
rs6771266	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7648237	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9309876	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9818090	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9838088	0.82[EUR][1000 genomes]
rs9852545	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9860805	0.85[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:44 , 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	chr3:81755800-81781000	Weak transcription	Primary B cells from cord blood	blood
3	chr3:81766600-81791200	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr3:81773000-81780800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr3:81773200-81792200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr3:81773400-81783600	Weak transcription	HepG2	liver
7	chr3:81774200-81780600	Weak transcription	Brain Substantia Nigra	brain
8	chr3:81774600-81784200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr3:81776000-81807400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr3:81776400-81789400	Weak transcription	HSMMtube	muscle
11	chr3:81776600-81784800	Weak transcription	Adipose Nuclei	Adipose
12	chr3:81777600-81779600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr3:81777800-81781000	Weak transcription	Colon Smooth Muscle	Colon
14	chr3:81777800-81784600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr3:81778000-81779600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr3:81778400-81779400	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr3:81778400-81780400	Genic enhancers	Dnd41	blood
18	chr3:81778600-81779400	Enhancers	NHLF	lung
19	chr3:81778600-81779800	Enhancers	NHDF-Ad	bronchial
20	chr3:81778600-81780000	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr3:81778600-81781000	Weak transcription	Pancreas	Pancrea
22	chr3:81778600-81789600	Weak transcription	Aorta	Aorta
23	chr3:81778600-81789600	Weak transcription	HSMM	muscle
24	chr3:81778800-81779800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr3:81778800-81781000	Enhancers	Psoas Muscle	Psoas
26	chr3:81778800-81782000	Weak transcription	Osteobl	bone
27	chr3:81778800-81783600	Weak transcription	HMEC	breast
28	chr3:81778800-81783800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr3:81778800-81784000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr3:81779000-81779800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr3:81779000-81781800	Weak transcription	A549	lung
32	chr3:81779000-81782000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr3:81779000-81782000	Weak transcription	Right Atrium	heart
34	chr3:81779000-81782000	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr3:81779000-81783000	Weak transcription	NHEK	skin
36	chr3:81779000-81785200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr3:81779000-81790000	Weak transcription	HUVEC	blood vessel
38	chr3:81779200-81782000	Weak transcription	Left Ventricle	heart
39	chr3:81779200-81782200	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr3:81779200-81783600	Weak transcription	Hela-S3	cervix
41	chr3:81779200-81783800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr3:81779200-81789200	Weak transcription	Right Ventricle	heart
43	chr3:81779200-81789600	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr3:81779200-81791200	Weak transcription	Liver	Liver

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