Variant report

Variant	rs1422723
Chromosome Location	chr5:97845875-97845876
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10038701	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1156555	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11952745	0.83[EUR][1000 genomes]
rs13154568	0.85[EUR][1000 genomes]
rs1345571	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1363584	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1363585	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1421632	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1422720	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1422722	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1422724	0.89[ASN][1000 genomes]
rs152954	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs152955	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs152956	0.81[ASN][1000 genomes]
rs152957	0.81[ASN][1000 genomes]
rs1559132	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1560179	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1592734	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs171528	0.81[ASN][1000 genomes]
rs181854	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1820766	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs193500	0.82[ASN][1000 genomes]
rs2042966	0.88[EUR][1000 genomes]
rs2052447	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2431067	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs251481	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs251482	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs27029	0.82[ASN][1000 genomes]
rs27030	0.83[ASN][1000 genomes]
rs27031	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs27786	0.83[ASN][1000 genomes]
rs27870	0.82[ASN][1000 genomes]
rs27971	0.82[ASN][1000 genomes]
rs29661	0.81[ASN][1000 genomes]
rs29670	0.83[ASN][1000 genomes]
rs29770	0.94[CHB][hapmap]
rs29772	0.94[CHB][hapmap]
rs36759	0.83[ASN][1000 genomes]
rs36760	0.83[ASN][1000 genomes]
rs36761	0.83[ASN][1000 genomes]
rs36762	0.83[ASN][1000 genomes]
rs36763	0.85[ASN][1000 genomes]
rs36765	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3860804	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs457020	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4601066	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs460723	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs462622	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs463369	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs466058	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs466259	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs467853	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs468674	0.82[CEU][hapmap];1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs469191	0.82[ASN][1000 genomes]
rs469328	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4703113	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4703114	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4703120	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs651434	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6867574	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6870691	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6881724	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6893541	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs765576	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs765577	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7719420	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7724726	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs929739	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9327251	0.85[EUR][1000 genomes]
rs985151	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018555	chr5:97719032-97873906	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv882412	chr5:97796120-97953719	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:97844200-97847200	Enhancers	Fetal Intestine Large	intestine
2	chr5:97844400-97847200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:97844400-97850400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:97844600-97846800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr5:97844800-97846400	Enhancers	Fetal Muscle Leg	muscle
6	chr5:97845000-97846000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr5:97845000-97846000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:97845000-97846000	Enhancers	Small Intestine	intestine
9	chr5:97845000-97846200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr5:97845000-97846200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr5:97845000-97846200	Enhancers	HSMMtube	muscle
12	chr5:97845000-97846400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr5:97845000-97846600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr5:97845000-97846800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr5:97845000-97846800	Enhancers	Fetal Intestine Small	intestine
16	chr5:97845000-97846800	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr5:97845000-97847600	Enhancers	Stomach Mucosa	stomach
18	chr5:97845200-97846200	Enhancers	Brain Cingulate Gyrus	brain
19	chr5:97845200-97846400	Enhancers	H9 Cell Line	embryonic stem cell
20	chr5:97845200-97846600	Enhancers	Duodenum Mucosa	Duodenum
21	chr5:97845200-97846800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr5:97845400-97846200	Enhancers	Muscle Satellite Cultured Cells	--
23	chr5:97845400-97846400	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr5:97845400-97846400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr5:97845400-97846600	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr5:97845600-97846000	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr5:97845600-97846000	Enhancers	HUVEC	blood vessel
28	chr5:97845600-97846200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr5:97845600-97846200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr5:97845600-97846200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr5:97845600-97846200	Enhancers	NHDF-Ad	bronchial
32	chr5:97845600-97846200	Enhancers	NHLF	lung
33	chr5:97845600-97846400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr5:97845600-97846400	Enhancers	Fetal Brain Male	brain
35	chr5:97845600-97846400	Enhancers	HSMM	muscle
36	chr5:97845600-97846600	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr5:97845600-97846600	Enhancers	Fetal Lung	lung
38	chr5:97845600-97846800	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr5:97845800-97846000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr5:97845800-97846000	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr5:97845800-97846000	Enhancers	Brain Anterior Caudate	brain
42	chr5:97845800-97846000	Flanking Active TSS	Brain Substantia Nigra	brain
43	chr5:97845800-97846000	Enhancers	Gastric	stomach
44	chr5:97845800-97846000	Enhancers	Pancreas	Pancrea
45	chr5:97845800-97846000	Enhancers	Psoas Muscle	Psoas
46	chr5:97845800-97846200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
47	chr5:97845800-97846200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr5:97845800-97846200	Enhancers	NH-A	brain
49	chr5:97845800-97846400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr5:97845800-97846400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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