Variant report

Variant	rs55819324
Chromosome Location	chr5:60650268-60650269
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:60634969..60638918-chr5:60646594..60650341,4	K562	blood:
2	chr5:60627630..60629633-chr5:60648859..60650448,2	K562	blood:
3	chr5:60642800..60645654-chr5:60648983..60651789,2	K562	blood:
4	chr5:60650164..60651783-chr5:60654233..60656069,2	MCF-7	breast:
5	chr5:60637077..60642495-chr5:60646912..60651371,7	MCF-7	breast:
6	chr5:60626717..60629639-chr5:60647070..60651893,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000130449	Chromatin interaction
ENSG00000251682	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10514908	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10514909	0.80[ASN][1000 genomes]
rs11738493	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11746741	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13158938	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs13164700	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs13168165	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13174756	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17338553	0.82[AMR][1000 genomes]
rs34027100	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34323293	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34993457	0.80[ASN][1000 genomes]
rs35704054	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36069847	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62368661	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62368664	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7446236	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][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:53 , 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	chr5:60637200-60651200	Enhancers	Brain Anterior Caudate	brain
3	chr5:60638000-60651200	Enhancers	Brain Hippocampus Middle	brain
4	chr5:60638200-60653000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:60638400-60650600	Enhancers	Brain Substantia Nigra	brain
6	chr5:60638400-60653000	Weak transcription	NHEK	skin
7	chr5:60638400-60655000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:60638400-60665200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr5:60638800-60650600	Enhancers	Brain Angular Gyrus	brain
10	chr5:60640400-60652800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:60640400-60665600	Weak transcription	Gastric	stomach
12	chr5:60640600-60658400	Weak transcription	Fetal Brain Female	brain
13	chr5:60640600-60658400	Weak transcription	NHLF	lung
14	chr5:60641600-60667400	Weak transcription	Fetal Kidney	kidney
15	chr5:60643200-60653000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr5:60643200-60658400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr5:60643400-60652800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr5:60643400-60652800	Weak transcription	NHDF-Ad	bronchial
19	chr5:60643400-60660800	Weak transcription	Esophagus	oesophagus
20	chr5:60643400-60663200	Weak transcription	Spleen	Spleen
21	chr5:60643600-60652000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr5:60644600-60650600	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr5:60646600-60658400	Weak transcription	HSMMtube	muscle
24	chr5:60647200-60653200	Weak transcription	HSMM	muscle
25	chr5:60647800-60655200	Weak transcription	Small Intestine	intestine
26	chr5:60648000-60652000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr5:60648000-60658400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr5:60648200-60652800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr5:60648200-60658200	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr5:60648200-60664600	Weak transcription	Aorta	Aorta
31	chr5:60648800-60652000	Weak transcription	Lung	lung
32	chr5:60648800-60653000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr5:60649000-60653000	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr5:60649000-60666400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr5:60649200-60651000	Weak transcription	Fetal Brain Male	brain
36	chr5:60649200-60653200	Weak transcription	Adipose Nuclei	Adipose
37	chr5:60649200-60656600	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr5:60649400-60651800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:60649400-60652800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr5:60649400-60664400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr5:60649600-60654200	Weak transcription	Fetal Heart	heart
42	chr5:60650000-60652800	Weak transcription	Brain Cingulate Gyrus	brain
43	chr5:60650000-60652800	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr5:60650000-60654600	Weak transcription	Left Ventricle	heart
45	chr5:60650000-60654600	Weak transcription	Pancreas	Pancrea
46	chr5:60650000-60655000	Weak transcription	Right Atrium	heart
47	chr5:60650000-60658200	Weak transcription	Psoas Muscle	Psoas
48	chr5:60650000-60658400	Weak transcription	Right Ventricle	heart
49	chr5:60650000-60659000	Weak transcription	Colon Smooth Muscle	Colon
50	chr5:60650000-60664600	Weak transcription	Ovary	ovary

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