Variant report

Variant	rs60500565
Chromosome Location	chr5:16739159-16739160
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF7L2	chr5:16739092-16739303	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr5:16739102-16739270	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:16734341..16736922-chr5:16738909..16741583,2	MCF-7	breast:

Variant related genes	Relation type
MYO10	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10037291	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10043510	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10051558	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10051930	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10077298	0.93[EUR][1000 genomes]
rs13359146	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6896958	0.91[EUR][1000 genomes]
rs7712627	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7712637	0.91[EUR][1000 genomes]
rs7729830	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7729861	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7729975	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7730280	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7730837	0.93[EUR][1000 genomes]
rs9312925	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869660	chr5:16651289-16766428	Genic enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv880373	chr5:16710572-16785604	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1025225	chr5:16714512-17234866	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv520128	chr5:16737513-16746784	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 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	chr5:16730800-16741400	Strong transcription	A549	lung
2	chr5:16730800-16744400	Weak transcription	HSMM	muscle
3	chr5:16734600-16744400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:16734800-16739200	Enhancers	Pancreas	Pancrea
5	chr5:16735000-16739400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:16735000-16739400	Enhancers	Stomach Mucosa	stomach
7	chr5:16735200-16746600	Weak transcription	HSMMtube	muscle
8	chr5:16736400-16739200	Enhancers	HMEC	breast
9	chr5:16736400-16740200	Weak transcription	Right Ventricle	heart
10	chr5:16736400-16781400	Weak transcription	Esophagus	oesophagus
11	chr5:16736600-16740400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr5:16736800-16739200	Enhancers	HUVEC	blood vessel
13	chr5:16736800-16740200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr5:16736800-16740600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:16736800-16741800	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr5:16736800-16756600	Weak transcription	Ovary	ovary
17	chr5:16736800-16758200	Weak transcription	Spleen	Spleen
18	chr5:16736800-16761200	Weak transcription	Hela-S3	cervix
19	chr5:16736800-16761800	Weak transcription	Colonic Mucosa	Colon
20	chr5:16736800-16762400	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr5:16737000-16741600	Weak transcription	NHDF-Ad	bronchial
22	chr5:16737000-16742000	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr5:16737000-16742000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr5:16737000-16780400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr5:16737600-16739400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr5:16737800-16739400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr5:16737800-16739400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
28	chr5:16737800-16740800	Weak transcription	Fetal Kidney	kidney
29	chr5:16738000-16739200	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr5:16738000-16740000	Weak transcription	Fetal Muscle Leg	muscle
31	chr5:16738000-16741600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr5:16738000-16742400	Active TSS	Fetal Brain Female	brain
33	chr5:16738000-16743800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr5:16738000-16746400	Weak transcription	Osteobl	bone
35	chr5:16738200-16739400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr5:16738200-16739400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr5:16738200-16739400	Enhancers	Fetal Brain Male	brain
38	chr5:16738200-16740000	Weak transcription	Brain Cingulate Gyrus	brain
39	chr5:16738200-16740200	Weak transcription	Brain Substantia Nigra	brain
40	chr5:16738200-16740600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr5:16738400-16739200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr5:16738400-16739400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr5:16738400-16739800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr5:16738400-16740000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr5:16738400-16740000	Weak transcription	Brain Hippocampus Middle	brain
46	chr5:16738400-16740000	Weak transcription	Fetal Muscle Trunk	muscle
47	chr5:16738400-16740200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr5:16738400-16740200	Weak transcription	Brain Angular Gyrus	brain
49	chr5:16738400-16740200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr5:16738400-16740600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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