Variant report

Variant	rs2594556
Chromosome Location	chr3:81802193-81802194
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:81800256..81803199-chr3:81804169..81806874,2	K562	blood:
2	chr3:81800238..81804445-chr3:81807593..81811759,7	MCF-7	breast:
3	chr3:81801409..81803903-chr3:81809203..81811677,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000114480	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs2316138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2594554	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2594555	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2594557	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2594559	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2594561	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2680241	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2680252	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2680253	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2680255	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2680256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2680279	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2680281	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2691074	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2691075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2691076	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2691087	1.00[AFR][1000 genomes];1.00[AMR][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:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:81776000-81807400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:81781000-81809400	Weak transcription	Primary B cells from peripheral blood	blood
3	chr3:81791200-81808800	Weak transcription	Primary T cells from cord blood	blood
4	chr3:81791600-81803400	Weak transcription	Brain Hippocampus Middle	brain
5	chr3:81792000-81810200	Weak transcription	Spleen	Spleen
6	chr3:81792800-81802800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:81793000-81802800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr3:81793000-81809600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr3:81793200-81803800	Weak transcription	Aorta	Aorta
10	chr3:81793200-81809200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr3:81793400-81803600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr3:81793800-81802600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr3:81793800-81808600	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr3:81793800-81809200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr3:81793800-81810000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr3:81794000-81802800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr3:81794000-81807000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr3:81794200-81803600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr3:81794400-81808600	Weak transcription	K562	blood
20	chr3:81794800-81807200	Weak transcription	HMEC	breast
21	chr3:81795600-81810000	Weak transcription	Lung	lung
22	chr3:81796000-81808600	Weak transcription	Small Intestine	intestine
23	chr3:81796200-81809200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr3:81796800-81802600	Weak transcription	Pancreas	Pancrea
25	chr3:81796800-81809200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr3:81797200-81804000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr3:81797400-81809800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr3:81797800-81803200	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr3:81797800-81807200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr3:81798400-81809000	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr3:81799000-81808600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr3:81799200-81803400	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr3:81799200-81805600	Weak transcription	Fetal Thymus	thymus
34	chr3:81799200-81806400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr3:81799400-81802600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr3:81799400-81803800	Weak transcription	A549	lung
37	chr3:81799400-81804400	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr3:81799400-81805400	Weak transcription	Osteobl	bone
39	chr3:81799400-81806400	Weak transcription	NHEK	skin
40	chr3:81799400-81807200	Weak transcription	NH-A	brain
41	chr3:81799400-81808400	Weak transcription	Hela-S3	cervix
42	chr3:81799400-81808600	Weak transcription	Fetal Heart	heart
43	chr3:81799400-81809400	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr3:81799600-81802800	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr3:81799800-81809800	Weak transcription	Fetal Muscle Leg	muscle
46	chr3:81800200-81802800	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr3:81800200-81803200	Strong transcription	HSMM	muscle
48	chr3:81800400-81809400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr3:81800400-81809400	Weak transcription	Brain Angular Gyrus	brain
50	chr3:81800600-81802600	Weak transcription	Ovary	ovary

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