Variant report

Variant	rs55772332
Chromosome Location	chr5:60645364-60645365
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:60626862..60630406-chr5:60642263..60646074,4	MCF-7	breast:
2	chr5:60626654..60629476-chr5:60644266..60647227,3	MCF-7	breast:
3	chr5:60644363..60646170-chr5:60651907..60654298,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000130449	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10051279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10054080	1.00[AMR][1000 genomes]
rs10054139	0.83[AFR][1000 genomes]
rs10055806	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10057354	1.00[AMR][1000 genomes]
rs10073626	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10079312	1.00[AMR][1000 genomes]
rs10471270	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10471506	1.00[AMR][1000 genomes]
rs12332333	0.83[AFR][1000 genomes]
rs28640139	0.83[AFR][1000 genomes]
rs59299298	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59481395	1.00[AMR][1000 genomes]
rs60636715	1.00[AMR][1000 genomes]
rs73101794	1.00[AMR][1000 genomes]
rs73101796	1.00[AMR][1000 genomes]
rs73103607	1.00[AMR][1000 genomes]
rs7443689	0.95[AFR][1000 genomes];1.00[AMR][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	nsv1028884	chr5:60414723-60732779	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
2	nsv823089	chr5:60589501-60669903	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv1815974	chr5:60626344-60664356	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60631400-60652800	Weak transcription	Primary B cells from cord blood	blood
2	chr5:60632000-60648600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:60637200-60645800	Weak transcription	Stomach Mucosa	stomach
4	chr5:60637200-60647600	Weak transcription	Colonic Mucosa	Colon
5	chr5:60637200-60651200	Enhancers	Brain Anterior Caudate	brain
6	chr5:60638000-60651200	Enhancers	Brain Hippocampus Middle	brain
7	chr5:60638200-60653000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:60638400-60646000	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr5:60638400-60648600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:60638400-60650600	Enhancers	Brain Substantia Nigra	brain
11	chr5:60638400-60653000	Weak transcription	NHEK	skin
12	chr5:60638400-60655000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr5:60638400-60665200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr5:60638800-60650600	Enhancers	Brain Angular Gyrus	brain
15	chr5:60640400-60647800	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr5:60640400-60652800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:60640400-60665600	Weak transcription	Gastric	stomach
18	chr5:60640600-60645800	Weak transcription	Right Ventricle	heart
19	chr5:60640600-60647800	Weak transcription	Aorta	Aorta
20	chr5:60640600-60648600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr5:60640600-60658400	Weak transcription	Fetal Brain Female	brain
22	chr5:60640600-60658400	Weak transcription	NHLF	lung
23	chr5:60640800-60645800	Weak transcription	HSMMtube	muscle
24	chr5:60640800-60647800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr5:60641000-60645800	Weak transcription	Fetal Muscle Leg	muscle
26	chr5:60641600-60646000	Weak transcription	Fetal Heart	heart
27	chr5:60641600-60667400	Weak transcription	Fetal Kidney	kidney
28	chr5:60642000-60645400	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr5:60642400-60646600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr5:60642400-60650000	Enhancers	Brain Cingulate Gyrus	brain
31	chr5:60642600-60645400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr5:60642600-60649800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr5:60643000-60649800	Weak transcription	Fetal Intestine Small	intestine
34	chr5:60643200-60648200	Weak transcription	Adipose Nuclei	Adipose
35	chr5:60643200-60653000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr5:60643200-60658400	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr5:60643400-60645800	Weak transcription	Left Ventricle	heart
38	chr5:60643400-60645800	Weak transcription	Psoas Muscle	Psoas
39	chr5:60643400-60645800	Weak transcription	HUVEC	blood vessel
40	chr5:60643400-60646000	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr5:60643400-60647600	Weak transcription	Liver	Liver
42	chr5:60643400-60647800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr5:60643400-60647800	Weak transcription	Lung	lung
44	chr5:60643400-60647800	Weak transcription	Ovary	ovary
45	chr5:60643400-60647800	Weak transcription	Right Atrium	heart
46	chr5:60643400-60648600	Weak transcription	Pancreas	Pancrea
47	chr5:60643400-60652800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr5:60643400-60652800	Weak transcription	NHDF-Ad	bronchial
49	chr5:60643400-60660800	Weak transcription	Esophagus	oesophagus
50	chr5:60643400-60663200	Weak transcription	Spleen	Spleen

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