Variant report

Variant	rs60498444
Chromosome Location	chr5:112408964-112408965
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:112402187..112405327-chr5:112405857..112410029,4	K562	blood:
2	chr5:112393898..112396478-chr5:112407663..112409529,2	K562	blood:
3	chr5:112403827..112406035-chr5:112407847..112410916,3	K562	blood:
4	chr5:112395182..112396947-chr5:112408525..112410110,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1822490	0.80[AMR][1000 genomes]
rs28624929	0.91[ASN][1000 genomes]
rs4235789	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57044242	0.84[AMR][1000 genomes]
rs57876684	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58169183	0.84[AMR][1000 genomes]
rs58572166	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58986551	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59494679	0.84[AMR][1000 genomes]
rs60853585	0.84[AMR][1000 genomes]
rs61708522	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73239115	0.81[AMR][1000 genomes]
rs7708630	0.91[ASN][1000 genomes]
rs7708913	0.91[ASN][1000 genomes]
rs7722357	0.84[AMR][1000 genomes]
rs7735738	0.81[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	nsv599394	chr5:112185491-112446323	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	esv15902	chr5:112369563-112410775	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv599395	chr5:112370311-112428869	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1018344	chr5:112390951-112458853	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112363800-112409200	Weak transcription	Colonic Mucosa	Colon
2	chr5:112363800-112417800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr5:112371400-112423800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:112379600-112424200	Weak transcription	Psoas Muscle	Psoas
5	chr5:112383200-112409400	Strong transcription	Liver	Liver
6	chr5:112384000-112453000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr5:112384200-112411000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr5:112390800-112410800	Weak transcription	Fetal Intestine Small	intestine
9	chr5:112391600-112439000	Weak transcription	Gastric	stomach
10	chr5:112395000-112411600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr5:112395600-112417600	Weak transcription	Brain Angular Gyrus	brain
12	chr5:112395600-112420400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr5:112395800-112409000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:112396000-112417200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr5:112398600-112409800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr5:112398800-112412400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr5:112399000-112432800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr5:112399200-112417600	Weak transcription	Fetal Kidney	kidney
19	chr5:112399800-112441800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr5:112400000-112417600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr5:112400200-112411400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:112400200-112416800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:112400200-112416800	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr5:112400400-112411200	Weak transcription	Thymus	Thymus
25	chr5:112400800-112423800	Weak transcription	Aorta	Aorta
26	chr5:112401800-112410600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr5:112402600-112425600	Weak transcription	Rectal Smooth Muscle	rectum
28	chr5:112402800-112410600	Weak transcription	Fetal Intestine Large	intestine
29	chr5:112402800-112410600	Weak transcription	Pancreas	Pancrea
30	chr5:112403000-112409000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr5:112403000-112410600	Weak transcription	Spleen	Spleen
32	chr5:112403800-112418400	Weak transcription	Brain Substantia Nigra	brain
33	chr5:112404000-112413800	Weak transcription	Brain Hippocampus Middle	brain
34	chr5:112404000-112426000	Weak transcription	Brain Cingulate Gyrus	brain
35	chr5:112404200-112410800	Weak transcription	Brain Germinal Matrix	brain
36	chr5:112404400-112411800	Strong transcription	Stomach Smooth Muscle	stomach
37	chr5:112404400-112428000	Weak transcription	Placenta	Placenta
38	chr5:112404400-112436800	Weak transcription	Fetal Brain Male	brain
39	chr5:112404600-112410600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr5:112404600-112411200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr5:112404600-112411600	Weak transcription	Fetal Lung	lung
42	chr5:112404600-112417000	Weak transcription	HSMMtube	muscle
43	chr5:112404800-112425400	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr5:112405000-112410000	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr5:112405200-112410400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr5:112405200-112410600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr5:112405600-112409600	Enhancers	K562	blood
48	chr5:112405600-112410600	Weak transcription	Adipose Nuclei	Adipose
49	chr5:112405800-112410800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr5:112405800-112410800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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