Variant report

Variant	rs7704566
Chromosome Location	chr5:112059627-112059628
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:112058449..112061248-chr5:112063741..112066202,3	K562	blood:
2	chr5:112040021..112044841-chr5:112056606..112060085,6	K562	blood:
3	chr5:112058057..112061004-chr5:112174922..112177064,2	K562	blood:
4	chr5:112053239..112054814-chr5:112058793..112060310,2	K562	blood:
5	chr5:112041705..112044841-chr5:112058087..112059989,3	K562	blood:
6	chr5:112043098..112044806-chr5:112058262..112061694,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134982	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1372220	0.82[EUR][1000 genomes]
rs17135067	0.86[EUR][1000 genomes]
rs17285372	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17285666	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17285827	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17286230	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17290064	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17310536	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17357294	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17359859	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17360045	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17360289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17369211	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17369487	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2229997	1.00[AFR][1000 genomes]
rs55684649	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55771959	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55798475	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56052440	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56194248	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56218335	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56235416	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56320268	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56328836	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs57043077	0.86[EUR][1000 genomes]
rs6862066	1.00[AFR][1000 genomes]
rs6879416	1.00[AFR][1000 genomes]
rs73216225	1.00[EUR][1000 genomes]
rs73220038	0.86[EUR][1000 genomes]
rs73220063	0.80[EUR][1000 genomes]
rs7700326	1.00[AFR][1000 genomes]
rs7726765	1.00[AFR][1000 genomes]
rs7728766	0.86[EUR][1000 genomes]
rs7730944	0.89[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:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112045400-112062000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr5:112045600-112060200	Weak transcription	NHLF	lung
3	chr5:112045600-112061600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:112045600-112063600	Weak transcription	Ovary	ovary
5	chr5:112046000-112069200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:112047000-112060400	Weak transcription	Primary B cells from peripheral blood	blood
7	chr5:112047000-112061600	Weak transcription	Aorta	Aorta
8	chr5:112047000-112066000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr5:112047400-112060400	Weak transcription	Fetal Intestine Large	intestine
10	chr5:112047400-112072400	Weak transcription	Thymus	Thymus
11	chr5:112047600-112061600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr5:112048400-112061200	Weak transcription	Fetal Intestine Small	intestine
13	chr5:112049200-112061600	Weak transcription	Fetal Stomach	stomach
14	chr5:112049600-112060400	Weak transcription	Lung	lung
15	chr5:112052000-112072600	Weak transcription	Primary B cells from cord blood	blood
16	chr5:112052600-112072600	Weak transcription	Primary T cells from cord blood	blood
17	chr5:112054400-112060600	Weak transcription	Small Intestine	intestine
18	chr5:112054400-112062200	Weak transcription	Right Ventricle	heart
19	chr5:112054400-112073200	Weak transcription	Pancreas	Pancrea
20	chr5:112054600-112061400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr5:112054800-112060200	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr5:112055000-112061600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr5:112056400-112060800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:112056400-112061800	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr5:112056600-112066200	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr5:112056600-112067400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr5:112056800-112061800	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr5:112056800-112063800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr5:112057400-112060600	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr5:112057400-112064800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr5:112058200-112059800	Enhancers	Brain Substantia Nigra	brain
32	chr5:112058200-112059800	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr5:112058400-112059800	Enhancers	Fetal Muscle Leg	muscle
34	chr5:112058600-112072800	Weak transcription	Brain Cingulate Gyrus	brain
35	chr5:112058800-112064000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr5:112059000-112060200	Weak transcription	Brain Hippocampus Middle	brain
37	chr5:112059000-112060800	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr5:112059000-112061000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr5:112059000-112061600	Weak transcription	Psoas Muscle	Psoas
40	chr5:112059200-112060200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr5:112059200-112067000	Weak transcription	Brain Anterior Caudate	brain
42	chr5:112059200-112067600	Weak transcription	Colon Smooth Muscle	Colon
43	chr5:112059200-112073200	Weak transcription	Left Ventricle	heart
44	chr5:112059400-112059800	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr5:112059400-112059800	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr5:112059600-112059800	Enhancers	Stomach Smooth Muscle	stomach
47	chr5:112059600-112060000	Enhancers	Fetal Heart	heart
48	chr5:112059600-112060600	Enhancers	Primary T killer memory cells from peripheral blood	blood

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