Variant report

Variant	rs72724420
Chromosome Location	chr8:131279296-131279297
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131277435..131279896-chr8:131293652..131295449,2	K562	blood:
2	chr8:131278240..131280307-chr8:131313127..131315525,2	K562	blood:

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10109236	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10505548	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10505549	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956513	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10956515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10956517	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11779014	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11781752	0.86[ASN][1000 genomes]
rs11786705	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12541083	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12542411	0.91[AFR][1000 genomes]
rs12545910	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12547397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12547540	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12675390	0.85[ASN][1000 genomes]
rs12675543	0.91[AFR][1000 genomes]
rs12676836	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12679283	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12681954	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12681955	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1417007	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1469286	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1549455	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16893271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16904208	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16904212	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16904219	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16904223	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16904231	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16904239	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16904241	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16904242	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16904249	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1960661	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1974313	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2027377	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs36004574	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3812476	0.95[AFR][1000 genomes]
rs4733573	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4733771	1.00[AFR][1000 genomes]
rs4733772	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4733782	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4733783	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4733788	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs57198371	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59297824	0.82[AFR][1000 genomes]
rs62524635	0.95[AFR][1000 genomes]
rs62524643	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs62524644	0.81[ASN][1000 genomes]
rs62524647	0.83[ASN][1000 genomes]
rs62524649	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs62525884	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62525885	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62525888	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62525889	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62525921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62525922	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62525927	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62525928	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6415511	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6415513	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6415514	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6470813	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6470814	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6991714	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6996469	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6999216	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7006336	0.80[ASN][1000 genomes]
rs716077	0.91[AFR][1000 genomes]
rs72722366	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72722371	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72724433	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7462286	0.82[ASN][1000 genomes]
rs754021	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9297806	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv465810	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv612234	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv831461	chr8:131159819-131302900	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv870148	chr8:131206342-131373989	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131250800-131289200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr8:131257400-131281600	Weak transcription	Gastric	stomach
3	chr8:131268400-131281600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:131268400-131291400	Weak transcription	Fetal Intestine Large	intestine
5	chr8:131268800-131281000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr8:131268800-131281400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr8:131269400-131280000	Weak transcription	Fetal Lung	lung
8	chr8:131270600-131283600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:131270600-131291200	Weak transcription	Liver	Liver
10	chr8:131272200-131286600	Weak transcription	Primary B cells from cord blood	blood
11	chr8:131272400-131281400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr8:131275400-131280600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:131275400-131281000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:131275400-131283000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr8:131275600-131280400	Enhancers	HUVEC	blood vessel
16	chr8:131275600-131281200	Enhancers	Osteobl	bone
17	chr8:131275600-131281400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr8:131275600-131289000	Weak transcription	Fetal Intestine Small	intestine
19	chr8:131275800-131281200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr8:131276400-131281200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr8:131276400-131281400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr8:131276600-131279400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr8:131276600-131280200	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr8:131276800-131279600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr8:131276800-131279600	Enhancers	NH-A	brain
26	chr8:131276800-131280000	Weak transcription	Fetal Muscle Leg	muscle
27	chr8:131276800-131280000	Weak transcription	Ovary	ovary
28	chr8:131276800-131280000	Weak transcription	Stomach Smooth Muscle	stomach
29	chr8:131276800-131280200	Weak transcription	Brain Angular Gyrus	brain
30	chr8:131276800-131280200	Enhancers	NHEK	skin
31	chr8:131276800-131282000	Enhancers	NHDF-Ad	bronchial
32	chr8:131276800-131288800	Weak transcription	Placenta	Placenta
33	chr8:131277000-131281000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr8:131277000-131281000	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr8:131277000-131281200	Weak transcription	Fetal Kidney	kidney
36	chr8:131277000-131281400	Weak transcription	Aorta	Aorta
37	chr8:131277000-131282200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr8:131277000-131288200	Weak transcription	K562	blood
39	chr8:131277200-131280000	Weak transcription	Brain Substantia Nigra	brain
40	chr8:131277200-131280000	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr8:131277200-131280600	Weak transcription	Fetal Heart	heart
42	chr8:131277200-131280800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr8:131277400-131279600	Weak transcription	Colon Smooth Muscle	Colon
44	chr8:131277400-131280600	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr8:131277400-131281000	Weak transcription	Brain Cingulate Gyrus	brain
46	chr8:131277400-131281000	Weak transcription	Brain Hippocampus Middle	brain
47	chr8:131277400-131291200	Weak transcription	Thymus	Thymus
48	chr8:131277600-131279400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr8:131277600-131279800	Weak transcription	Adipose Nuclei	Adipose
50	chr8:131277600-131281400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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