Variant report

Variant	rs72664934
Chromosome Location	chr4:85780653-85780654
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10007879	0.87[ASN][1000 genomes]
rs10029496	0.87[AMR][1000 genomes]
rs10856851	0.92[AMR][1000 genomes]
rs11097026	0.95[AMR][1000 genomes]
rs11730981	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12498637	0.86[AMR][1000 genomes]
rs12503215	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12506456	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12510410	0.86[AMR][1000 genomes]
rs12648852	0.84[AMR][1000 genomes]
rs13109918	0.86[AMR][1000 genomes]
rs13114115	0.92[AMR][1000 genomes]
rs13141322	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs13145705	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1484660	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17009341	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2046402	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2046404	0.93[AMR][1000 genomes]
rs2170935	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2869216	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4131745	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs4464556	0.87[AMR][1000 genomes]
rs4624645	0.85[AMR][1000 genomes]
rs6531775	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6531777	0.86[AMR][1000 genomes]
rs67045782	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6833661	0.84[AMR][1000 genomes]
rs6835046	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6847067	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6847811	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6857555	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6858666	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72664926	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72664952	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7654035	0.83[AMR][1000 genomes]
rs7661609	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7694949	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs9684737	0.85[AFR][1000 genomes];0.86[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	esv1829655	chr4:85577491-86292692	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv427684	chr4:85668487-85863446	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv519588	chr4:85762385-86591202	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:85701600-85783000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr4:85709000-85781600	Weak transcription	Esophagus	oesophagus
3	chr4:85722200-85787600	Weak transcription	Gastric	stomach
4	chr4:85723000-85821000	Weak transcription	Pancreas	Pancrea
5	chr4:85724000-85781400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:85724000-85786600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:85727800-85783200	Weak transcription	Colonic Mucosa	Colon
8	chr4:85731400-85791600	Weak transcription	Lung	lung
9	chr4:85736400-85790600	Weak transcription	NHEK	skin
10	chr4:85742600-85783200	Weak transcription	Fetal Brain Male	brain
11	chr4:85751600-85783000	Weak transcription	Stomach Mucosa	stomach
12	chr4:85753200-85783400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr4:85760800-85783400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr4:85762000-85781400	Weak transcription	Fetal Stomach	stomach
15	chr4:85770000-85786200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr4:85770000-85792800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:85770200-85787000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr4:85770600-85786000	Weak transcription	Psoas Muscle	Psoas
19	chr4:85770600-85787800	Weak transcription	Right Ventricle	heart
20	chr4:85771000-85783600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr4:85771000-85791400	Weak transcription	HMEC	breast
22	chr4:85771000-85791600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr4:85771200-85781000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr4:85771200-85781400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr4:85771200-85781400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr4:85771200-85783000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr4:85771200-85783200	Weak transcription	Ovary	ovary
28	chr4:85771200-85791200	Weak transcription	A549	lung
29	chr4:85771200-85798200	Weak transcription	Left Ventricle	heart
30	chr4:85771200-85803200	Weak transcription	Brain Germinal Matrix	brain
31	chr4:85771600-85791600	Weak transcription	HepG2	liver
32	chr4:85773600-85791400	Weak transcription	NH-A	brain
33	chr4:85774200-85782200	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr4:85774400-85781000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr4:85774600-85780800	Weak transcription	Fetal Intestine Small	intestine
36	chr4:85774600-85781800	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr4:85776000-85794200	Weak transcription	Fetal Lung	lung
38	chr4:85776200-85791400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr4:85776200-85791400	Weak transcription	Fetal Muscle Leg	muscle
40	chr4:85777800-85786000	Weak transcription	Right Atrium	heart
41	chr4:85778000-85781000	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr4:85778000-85782800	Weak transcription	Brain Angular Gyrus	brain
43	chr4:85778000-85783000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr4:85778000-85783000	Weak transcription	Brain Anterior Caudate	brain
45	chr4:85778000-85783200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr4:85778000-85784600	Weak transcription	Brain Hippocampus Middle	brain
47	chr4:85778000-85785600	Weak transcription	Fetal Heart	heart
48	chr4:85778000-85787000	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr4:85778000-85787000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr4:85778000-85791200	Weak transcription	Osteobl	bone

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