Variant report

Variant	rs56255433
Chromosome Location	chr5:96054660-96054661
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:96050817..96052390-chr5:96054162..96057341,3	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs28613847	1.00[AMR][1000 genomes]
rs56299553	1.00[AMR][1000 genomes]
rs56843965	1.00[AMR][1000 genomes]
rs58106243	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59848421	1.00[AMR][1000 genomes]
rs61327006	1.00[AMR][1000 genomes]
rs61669951	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73774352	1.00[AMR][1000 genomes]
rs73774354	1.00[AMR][1000 genomes]
rs73774360	1.00[AMR][1000 genomes]
rs73774361	1.00[AMR][1000 genomes]
rs73774362	1.00[AMR][1000 genomes]
rs73774364	1.00[AMR][1000 genomes]
rs73774367	1.00[AMR][1000 genomes]
rs73774369	1.00[AMR][1000 genomes]
rs73774375	1.00[AMR][1000 genomes]
rs73774385	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73774386	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73774388	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73774389	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73774390	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73774391	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73774392	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73774393	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73774397	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73774399	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73774400	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024964	chr5:95742124-96065492	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv537811	chr5:95742124-96065492	Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
3	nsv1015173	chr5:95987366-96153392	Genic enhancers Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
4	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
5	nsv830411	chr5:96045168-96187817	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96039200-96059800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:96039600-96063600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr5:96042800-96076200	Weak transcription	GM12878-XiMat	blood
4	chr5:96045800-96056800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:96047400-96054800	Enhancers	Fetal Heart	heart
6	chr5:96047800-96055000	Enhancers	Fetal Intestine Large	intestine
7	chr5:96048600-96054800	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr5:96049000-96054800	Enhancers	Stomach Mucosa	stomach
9	chr5:96049600-96054800	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr5:96049800-96054800	Enhancers	K562	blood
11	chr5:96049800-96058400	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr5:96050800-96057200	Weak transcription	Ovary	ovary
13	chr5:96051000-96056800	Weak transcription	NH-A	brain
14	chr5:96051000-96056800	Weak transcription	NHDF-Ad	bronchial
15	chr5:96051000-96057000	Weak transcription	HSMM	muscle
16	chr5:96051000-96065600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr5:96051000-96067000	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr5:96051000-96073600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr5:96051200-96054800	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr5:96051200-96055600	Weak transcription	NHLF	lung
21	chr5:96051200-96057000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr5:96051200-96076800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr5:96051400-96056400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:96051400-96056800	Weak transcription	Osteobl	bone
25	chr5:96051400-96059200	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr5:96051600-96055400	Weak transcription	Hela-S3	cervix
27	chr5:96051600-96056200	Weak transcription	Fetal Muscle Leg	muscle
28	chr5:96051600-96056200	Weak transcription	Stomach Smooth Muscle	stomach
29	chr5:96051600-96057000	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr5:96051600-96057000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr5:96051600-96057000	Weak transcription	Aorta	Aorta
32	chr5:96051600-96057000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr5:96051600-96057400	Weak transcription	Fetal Kidney	kidney
34	chr5:96051600-96057800	Enhancers	HMEC	breast
35	chr5:96051600-96065200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr5:96051600-96065400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr5:96051800-96056400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr5:96051800-96056400	Weak transcription	HSMMtube	muscle
39	chr5:96051800-96056800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr5:96051800-96060000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr5:96051800-96060800	Weak transcription	HUVEC	blood vessel
42	chr5:96052200-96057600	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr5:96052200-96058200	Weak transcription	Primary B cells from peripheral blood	blood
44	chr5:96052400-96065400	Weak transcription	HepG2	liver
45	chr5:96052400-96065600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr5:96052600-96055800	Enhancers	Right Ventricle	heart
47	chr5:96052800-96057800	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr5:96053000-96055000	Strong transcription	Primary B cells from cord blood	blood
49	chr5:96053000-96055800	Enhancers	Psoas Muscle	Psoas
50	chr5:96053000-96057000	Weak transcription	Primary monocytes fromperipheralblood	blood

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