Variant report

Variant	rs56234525
Chromosome Location	chr3:81810125-81810126
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:89988947..89989485-chr3:81809961..81810805,2	Hela-S3	cervix:
2	chr3:81797791..81799957-chr3:81809417..81811244,2	MCF-7	breast:
3	chr3:81784646..81786300-chr3:81807469..81810192,2	MCF-7	breast:
4	chr2:64977536..64978381-chr3:81809795..81810599,2	NB4	blood:
5	chr3:81797341..81800582-chr3:81808703..81810715,3	K562	blood:
6	chr3:81789146..81795604-chr3:81809193..81811958,7	MCF-7	breast:
7	chr12:121733110..121736069-chr3:81809721..81812341,2	MCF-7	breast:
8	chr3:81807656..81810555-chr3:81826584..81828101,2	MCF-7	breast:
9	chr3:81810009..81810587-chr9:131451316..131452026,2	Hela-S3	cervix:
10	chr3:81776057..81778355-chr3:81808798..81811277,2	K562	blood:
11	chr3:81717239..81719106-chr3:81808947..81811221,2	MCF-7	breast:
12	chr3:81789819..81797196-chr3:81807650..81813820,9	K562	blood:
13	chr3:81807474..81810445-chr3:81824019..81825823,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000179833	Chromatin interaction
ENSG00000119335	Chromatin interaction
ENSG00000259006	Chromatin interaction
ENSG00000110931	Chromatin interaction
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]
rs55850416	0.82[AFR][1000 genomes]
rs55903411	0.82[AFR][1000 genomes]
rs55980200	0.82[AFR][1000 genomes]
rs59795628	0.82[AFR][1000 genomes]
rs60401337	0.82[AFR][1000 genomes]
rs73853448	0.82[AFR][1000 genomes]
rs73853451	0.82[AFR][1000 genomes]
rs73853452	0.82[AFR][1000 genomes]
rs73853455	0.82[AFR][1000 genomes]
rs73853456	0.82[AFR][1000 genomes]
rs73853459	0.82[AFR][1000 genomes]
rs73853460	0.82[AFR][1000 genomes]
rs73853461	0.82[AFR][1000 genomes]
rs73853462	0.82[AFR][1000 genomes]
rs73853464	0.82[AFR][1000 genomes]
rs73853473	0.82[AFR][1000 genomes]
rs73853474	0.82[AFR][1000 genomes]
rs73853475	0.82[AFR][1000 genomes]
rs73853476	0.82[AFR][1000 genomes]
rs73853477	0.82[AFR][1000 genomes]
rs73853478	0.82[AFR][1000 genomes]
rs73853479	0.82[AFR][1000 genomes]
rs73853480	0.82[AFR][1000 genomes]
rs73853482	0.82[AFR][1000 genomes]
rs73853483	0.82[AFR][1000 genomes]
rs73853484	0.82[AFR][1000 genomes]
rs73853485	1.00[AFR][1000 genomes]
rs73853486	1.00[AFR][1000 genomes]
rs73853489	1.00[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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:81792000-81810200	Weak transcription	Spleen	Spleen
2	chr3:81805600-81811600	Active TSS	Right Ventricle	heart
3	chr3:81806800-81811000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr3:81807800-81811600	Active TSS	Psoas Muscle	Psoas
5	chr3:81808000-81811400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr3:81808200-81811000	Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr3:81808200-81811400	Active TSS	Right Atrium	heart
8	chr3:81808400-81810200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr3:81808400-81811400	Active TSS	Left Ventricle	heart
10	chr3:81808600-81810200	Flanking Active TSS	Osteobl	bone
11	chr3:81808800-81811000	Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr3:81808800-81811000	Active TSS	HSMMtube	muscle
13	chr3:81808800-81811200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr3:81808800-81811400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr3:81808800-81811400	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr3:81808800-81811400	Active TSS	HSMM	muscle
17	chr3:81809000-81810200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr3:81809000-81810800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr3:81809000-81811000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr3:81809000-81811000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr3:81809000-81811000	Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr3:81809000-81811000	Active TSS	GM12878-XiMat	blood
23	chr3:81809000-81811000	Active TSS	NHDF-Ad	bronchial
24	chr3:81809000-81811200	Active TSS	K562	blood
25	chr3:81809000-81811200	Active TSS	NHLF	lung
26	chr3:81809000-81811800	Active TSS	Aorta	Aorta
27	chr3:81809200-81810200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
28	chr3:81809200-81810200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr3:81809200-81810200	Flanking Active TSS	Duodenum Mucosa	Duodenum
30	chr3:81809200-81811000	Active TSS	HepG2	liver
31	chr3:81809200-81811200	Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr3:81809400-81810200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr3:81809400-81810200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr3:81809400-81810200	Flanking Active TSS	Primary T cells from cord blood	blood
35	chr3:81809400-81810200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr3:81809400-81811000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
37	chr3:81809400-81811200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr3:81809400-81811400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr3:81809400-81811400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr3:81809600-81810200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr3:81809600-81810200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr3:81809600-81810200	Flanking Active TSS	Fetal Kidney	kidney
43	chr3:81809600-81810800	Active TSS	Placenta	Placenta
44	chr3:81809600-81811000	Active TSS	Liver	Liver
45	chr3:81809600-81811000	Active TSS	Fetal Thymus	thymus
46	chr3:81809600-81811000	Active TSS	Hela-S3	cervix
47	chr3:81809600-81811000	Active TSS	HMEC	breast
48	chr3:81809600-81811200	Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr3:81809600-81811200	Active TSS	A549	lung
50	chr3:81809600-81811400	Active TSS	ES-I3 Cell Line	embryonic stem cell

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