Variant report

Variant	rs17286230
Chromosome Location	chr5:112055693-112055694
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:112053751..112055842-chr5:112072998..112075540,2	K562	blood:
2	chr5:112053504..112055952-chr5:112056185..112057959,2	MCF-7	breast:
3	chr5:112050398..112055694-chr5:112065977..112068837,5	K562	blood:
4	chr5:112053751..112057397-chr5:112071808..112074498,3	K562	blood:

Variant related genes	Relation type
ENSG00000134982	Chromatin interaction

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

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

rs_ID	r²[population]
rs1372220	0.82[EUR][1000 genomes]
rs17135067	0.86[EUR][1000 genomes]
rs17285372	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17285666	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17285827	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17290064	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17310536	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17357294	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17359859	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17360045	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17360289	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17369211	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17369487	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55684649	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55771959	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55798475	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56052440	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56194248	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56218335	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56235416	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56320268	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56328836	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs57043077	0.86[EUR][1000 genomes]
rs73216225	1.00[EUR][1000 genomes]
rs73220038	0.86[EUR][1000 genomes]
rs73220063	0.80[EUR][1000 genomes]
rs7704566	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7728766	0.86[EUR][1000 genomes]
rs7730944	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830450	chr5:111964170-112134510	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv462387	chr5:112053911-112124369	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
3	nsv599393	chr5:112053911-112124369	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112044800-112058000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr5:112044800-112058800	Weak transcription	Fetal Muscle Trunk	muscle
3	chr5:112045400-112062000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr5:112045600-112060200	Weak transcription	NHLF	lung
5	chr5:112045600-112061600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:112045600-112063600	Weak transcription	Ovary	ovary
7	chr5:112046000-112069200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:112047000-112060400	Weak transcription	Primary B cells from peripheral blood	blood
9	chr5:112047000-112061600	Weak transcription	Aorta	Aorta
10	chr5:112047000-112066000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr5:112047400-112056200	Weak transcription	Dnd41	blood
12	chr5:112047400-112058600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr5:112047400-112060400	Weak transcription	Fetal Intestine Large	intestine
14	chr5:112047400-112072400	Weak transcription	Thymus	Thymus
15	chr5:112047600-112061600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr5:112048200-112058200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr5:112048400-112061200	Weak transcription	Fetal Intestine Small	intestine
18	chr5:112049200-112061600	Weak transcription	Fetal Stomach	stomach
19	chr5:112049600-112055800	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr5:112049600-112060400	Weak transcription	Lung	lung
21	chr5:112050200-112056200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr5:112050800-112056200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr5:112051000-112056200	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr5:112051200-112058600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr5:112052000-112072600	Weak transcription	Primary B cells from cord blood	blood
26	chr5:112052600-112072600	Weak transcription	Primary T cells from cord blood	blood
27	chr5:112052800-112055800	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr5:112054000-112056400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr5:112054200-112055800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr5:112054400-112056000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr5:112054400-112056200	Weak transcription	GM12878-XiMat	blood
32	chr5:112054400-112057400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr5:112054400-112058200	Weak transcription	Psoas Muscle	Psoas
34	chr5:112054400-112058400	Weak transcription	Left Ventricle	heart
35	chr5:112054400-112060600	Weak transcription	Small Intestine	intestine
36	chr5:112054400-112062200	Weak transcription	Right Ventricle	heart
37	chr5:112054400-112073200	Weak transcription	Pancreas	Pancrea
38	chr5:112054600-112055800	Weak transcription	Brain Angular Gyrus	brain
39	chr5:112054600-112055800	Weak transcription	Brain Hippocampus Middle	brain
40	chr5:112054600-112056200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr5:112054600-112056200	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr5:112054600-112057200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr5:112054600-112057200	Weak transcription	Brain Substantia Nigra	brain
44	chr5:112054600-112061400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr5:112054800-112055800	Weak transcription	Brain Anterior Caudate	brain
46	chr5:112054800-112055800	Weak transcription	Brain Cingulate Gyrus	brain
47	chr5:112054800-112057000	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr5:112054800-112057400	Weak transcription	Colon Smooth Muscle	Colon
49	chr5:112054800-112058400	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr5:112054800-112058600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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