Variant report

Variant	rs4721783
Chromosome Location	chr7:19577523-19577524
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 105 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs1008704	0.88[EUR][1000 genomes]
rs10228147	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs10230207	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10230658	0.83[EUR][1000 genomes]
rs10242068	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10242663	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10244808	0.82[EUR][1000 genomes]
rs10248814	0.90[AFR][1000 genomes]
rs10257211	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10261496	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10261834	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10267686	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10269875	0.83[EUR][1000 genomes]
rs10273311	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs10276556	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10278135	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10282612	0.83[AMR][1000 genomes]
rs1074858	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs10807794	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11505420	0.88[EUR][1000 genomes]
rs1158069	0.84[AMR][1000 genomes]
rs11767221	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12535260	0.85[EUR][1000 genomes]
rs12536555	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12537939	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12538102	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12700056	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12700057	0.83[EUR][1000 genomes]
rs12700058	0.85[EUR][1000 genomes]
rs12700059	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13246869	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13437937	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs1476944	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1985774	0.88[EUR][1000 genomes]
rs2024347	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2024355	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2058422	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2080017	0.85[AMR][1000 genomes]
rs2080222	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2109873	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2109874	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2160095	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2192476	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2192477	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2192481	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2192482	0.82[EUR][1000 genomes]
rs2192484	0.83[EUR][1000 genomes]
rs2192486	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2390118	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2390142	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2390143	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs28407069	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs4472416	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4472417	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4480011	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4509205	0.88[AFR][1000 genomes]
rs4602789	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4626493	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs4719564	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4719574	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs4719575	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs4719576	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs4721778	0.84[ASN][1000 genomes]
rs4721780	0.84[ASN][1000 genomes]
rs4721784	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4721791	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs4721792	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs4721794	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6461445	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6461446	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs6963439	0.81[EUR][1000 genomes]
rs6971038	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6971829	0.87[EUR][1000 genomes]
rs6972245	0.86[EUR][1000 genomes]
rs759248	0.83[EUR][1000 genomes]
rs759249	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7786622	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7789868	0.81[EUR][1000 genomes]
rs7794428	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7798205	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7802880	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7805790	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs917917	0.81[EUR][1000 genomes]
rs917918	0.83[EUR][1000 genomes]
rs917919	0.81[EUR][1000 genomes]
rs9648259	0.87[EUR][1000 genomes]
rs9648260	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9648261	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9655174	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs9655175	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs985306	0.83[EUR][1000 genomes]
rs985307	0.82[EUR][1000 genomes]
rs985881	0.86[EUR][1000 genomes]
rs985882	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv887819	chr7:19262091-19658389	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1018601	chr7:19272360-20008881	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
3	esv2752996	chr7:19392086-19684019	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv2759517	chr7:19396146-19620962	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	esv2758107	chr7:19436043-19620962	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	esv2752153	chr7:19509002-19620651	Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv887824	chr7:19524863-19687779	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv887825	chr7:19536977-19615992	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv1026185	chr7:19564488-19612246	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	nsv1016344	chr7:19574677-19654624	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv1032609	chr7:19575555-19654624	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:19576800-19578400	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr7:19577200-19577600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:19577200-19577600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:19577200-19577600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr7:19577200-19577800	Enhancers	Muscle Satellite Cultured Cells	--
6	chr7:19577200-19578000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:19577200-19578000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr7:19577200-19578000	Enhancers	Colon Smooth Muscle	Colon
9	chr7:19577200-19578000	Active TSS	Osteobl	bone
10	chr7:19577400-19577600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr7:19577400-19577600	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr7:19577400-19577600	Flanking Active TSS	Rectal Smooth Muscle	rectum
13	chr7:19577400-19577800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:19577400-19577800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr7:19577400-19577800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:19577400-19577800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:19577400-19577800	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr7:19577400-19577800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr7:19577400-19577800	Flanking Active TSS	Brain Anterior Caudate	brain
20	chr7:19577400-19577800	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr7:19577400-19578000	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr7:19577400-19578000	Enhancers	H1 Cell Line	embryonic stem cell
23	chr7:19577400-19578000	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr7:19577400-19578000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr7:19577400-19578000	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr7:19577400-19578000	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr7:19577400-19578000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr7:19577400-19578000	Enhancers	Brain Germinal Matrix	brain
29	chr7:19577400-19578000	Active TSS	Stomach Smooth Muscle	stomach
30	chr7:19577400-19578000	Enhancers	HMEC	breast
31	chr7:19577400-19578000	Enhancers	HSMMtube	muscle
32	chr7:19577400-19578200	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr7:19577400-19578200	Active TSS	Brain Cingulate Gyrus	brain
34	chr7:19577400-19578200	Active TSS	Brain Hippocampus Middle	brain
35	chr7:19577400-19578200	Active TSS	Brain Substantia Nigra	brain
36	chr7:19577400-19578200	Active TSS	NHDF-Ad	bronchial
37	chr7:19577400-19578400	Enhancers	HSMM	muscle

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