Variant report

Variant	rs72729992
Chromosome Location	chr4:149319383-149319384
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:149318788..149321566-chr4:149363942..149366140,2	K562	blood:

Variant related genes	Relation type
ENSG00000151623	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10434100	0.84[EUR][1000 genomes]
rs10519963	0.96[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs11931777	0.84[EUR][1000 genomes]
rs11937655	0.94[ASN][1000 genomes]
rs12506058	0.84[EUR][1000 genomes]
rs12510074	0.84[EUR][1000 genomes]
rs1490453	0.94[ASN][1000 genomes]
rs16998733	0.94[EUR][1000 genomes]
rs17024681	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17484783	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17484839	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17484873	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17485033	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17582031	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2048546	0.94[EUR][1000 genomes]
rs2063553	0.84[EUR][1000 genomes]
rs2063554	0.84[EUR][1000 genomes]
rs2063555	0.84[EUR][1000 genomes]
rs2063556	0.84[EUR][1000 genomes]
rs2137330	0.84[EUR][1000 genomes]
rs56721167	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59941204	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61569758	0.88[EUR][1000 genomes]
rs61756947	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61758341	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61758351	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61763850	0.96[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs61764769	0.96[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs66584597	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6834935	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6840422	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72729936	0.84[EUR][1000 genomes]
rs72729950	0.80[EUR][1000 genomes]
rs72729990	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72732304	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72732308	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72732311	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72953910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7682972	0.94[EUR][1000 genomes]
rs7686433	0.93[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7688969	0.94[ASN][1000 genomes]
rs7698307	0.94[AMR][1000 genomes];0.99[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	nsv1027263	chr4:149127120-149320135	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv537296	chr4:149127120-149320135	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1016966	chr4:149209467-149341037	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv530433	chr4:149277637-149669181	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:149297800-149350000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr4:149299000-149329000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr4:149307600-149336600	Weak transcription	Aorta	Aorta
4	chr4:149309400-149320000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr4:149312800-149338800	Weak transcription	Brain Hippocampus Middle	brain
6	chr4:149313200-149326400	Weak transcription	Fetal Intestine Small	intestine
7	chr4:149315800-149326400	Weak transcription	Right Ventricle	heart
8	chr4:149316800-149320600	Enhancers	Fetal Heart	heart
9	chr4:149317800-149321400	Enhancers	Colon Smooth Muscle	Colon
10	chr4:149318200-149319400	Enhancers	Ovary	ovary
11	chr4:149318200-149320400	Enhancers	Stomach Mucosa	stomach
12	chr4:149318400-149319400	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr4:149318400-149319400	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr4:149318600-149320800	Weak transcription	Fetal Lung	lung
15	chr4:149318600-149326400	Weak transcription	Right Atrium	heart
16	chr4:149318600-149327400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr4:149318800-149346600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr4:149319000-149339000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr4:149319200-149319400	Weak transcription	Liver	Liver
20	chr4:149319200-149319400	Enhancers	Duodenum Mucosa	Duodenum
21	chr4:149319200-149319800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr4:149319200-149320400	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr4:149319200-149326400	Weak transcription	Left Ventricle	heart
24	chr4:149319200-149326400	Weak transcription	Psoas Muscle	Psoas
25	chr4:149319200-149327200	Weak transcription	Fetal Stomach	stomach
26	chr4:149319200-149335000	Weak transcription	Esophagus	oesophagus
27	chr4:149319200-149339200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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