Variant report

Variant	rs1896620
Chromosome Location	chr5:111670507-111670508
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:111664622..111667062-chr5:111669246..111671249,2	K562	blood:

Extended variants
information (count: 150 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:139)

rs_ID	r²[population]
rs10037824	1.00[ASN][1000 genomes]
rs10040749	1.00[ASN][1000 genomes]
rs10054560	1.00[ASN][1000 genomes]
rs10065740	1.00[ASN][1000 genomes]
rs10068493	1.00[ASN][1000 genomes]
rs10069011	1.00[ASN][1000 genomes]
rs10070995	1.00[ASN][1000 genomes]
rs1020951	1.00[ASN][1000 genomes]
rs10463433	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10477478	1.00[ASN][1000 genomes]
rs10478073	1.00[ASN][1000 genomes]
rs1054724	1.00[ASN][1000 genomes]
rs1078128	1.00[ASN][1000 genomes]
rs11241153	1.00[ASN][1000 genomes]
rs11241160	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12186685	1.00[ASN][1000 genomes]
rs12187589	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12187787	1.00[ASN][1000 genomes]
rs12187819	1.00[ASN][1000 genomes]
rs12187850	0.86[EUR][1000 genomes]
rs12188700	1.00[ASN][1000 genomes]
rs12189034	1.00[ASN][1000 genomes]
rs13153601	1.00[ASN][1000 genomes]
rs1318178	1.00[ASN][1000 genomes]
rs1366144	1.00[ASN][1000 genomes]
rs1427978	1.00[ASN][1000 genomes]
rs1524425	0.86[EUR][1000 genomes]
rs1554624	0.87[EUR][1000 genomes]
rs1560052	1.00[ASN][1000 genomes]
rs1560053	1.00[ASN][1000 genomes]
rs1560054	1.00[ASN][1000 genomes]
rs1560055	1.00[ASN][1000 genomes]
rs1560057	1.00[ASN][1000 genomes]
rs1560058	1.00[ASN][1000 genomes]
rs1560061	1.00[ASN][1000 genomes]
rs17134319	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17134321	0.92[EUR][1000 genomes]
rs17134327	0.86[EUR][1000 genomes]
rs17134348	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17271934	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17343994	1.00[ASN][1000 genomes]
rs17345175	1.00[ASN][1000 genomes]
rs17354763	1.00[ASN][1000 genomes]
rs17354833	1.00[ASN][1000 genomes]
rs1896621	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1975015	1.00[ASN][1000 genomes]
rs2067096	1.00[ASN][1000 genomes]
rs2114991	1.00[ASN][1000 genomes]
rs2416277	1.00[ASN][1000 genomes]
rs386446	1.00[ASN][1000 genomes]
rs4292487	1.00[ASN][1000 genomes]
rs4602685	1.00[ASN][1000 genomes]
rs4957632	1.00[ASN][1000 genomes]
rs4957634	1.00[ASN][1000 genomes]
rs4957636	1.00[ASN][1000 genomes]
rs4958002	1.00[ASN][1000 genomes]
rs4958003	1.00[ASN][1000 genomes]
rs4958004	1.00[ASN][1000 genomes]
rs4958009	1.00[ASN][1000 genomes]
rs4958010	1.00[ASN][1000 genomes]
rs4958012	1.00[ASN][1000 genomes]
rs4958013	1.00[ASN][1000 genomes]
rs4958014	1.00[ASN][1000 genomes]
rs4958015	1.00[ASN][1000 genomes]
rs4958020	1.00[ASN][1000 genomes]
rs4958025	1.00[ASN][1000 genomes]
rs55637388	0.86[EUR][1000 genomes]
rs55639430	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55650579	1.00[ASN][1000 genomes]
rs55712004	1.00[ASN][1000 genomes]
rs55796748	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55814486	1.00[ASN][1000 genomes]
rs55829200	1.00[ASN][1000 genomes]
rs55845736	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55913426	1.00[ASN][1000 genomes]
rs56108405	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56288086	1.00[ASN][1000 genomes]
rs56293447	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56307310	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56881711	1.00[ASN][1000 genomes]
rs57428532	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59537089	1.00[ASN][1000 genomes]
rs60636568	1.00[ASN][1000 genomes]
rs61061658	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62365251	1.00[ASN][1000 genomes]
rs62365255	1.00[ASN][1000 genomes]
rs62367266	1.00[ASN][1000 genomes]
rs62372421	1.00[ASN][1000 genomes]
rs6594566	1.00[ASN][1000 genomes]
rs6594567	1.00[ASN][1000 genomes]
rs6594569	1.00[ASN][1000 genomes]
rs6594571	1.00[ASN][1000 genomes]
rs6594574	1.00[ASN][1000 genomes]
rs6594577	1.00[ASN][1000 genomes]
rs6594588	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66521031	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66550707	1.00[ASN][1000 genomes]
rs66814803	1.00[ASN][1000 genomes]
rs66892745	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67033649	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67586008	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67631852	1.00[ASN][1000 genomes]
rs6863063	1.00[ASN][1000 genomes]
rs6872947	1.00[ASN][1000 genomes]
rs6876893	1.00[ASN][1000 genomes]
rs6878117	1.00[ASN][1000 genomes]
rs6878423	1.00[ASN][1000 genomes]
rs6884589	1.00[ASN][1000 genomes]
rs6893877	1.00[ASN][1000 genomes]
rs6894036	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6894358	0.97[EUR][1000 genomes]
rs72781655	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72781664	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72781668	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72781676	0.86[EUR][1000 genomes]
rs72781677	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72781678	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783609	0.84[EUR][1000 genomes]
rs72783628	1.00[ASN][1000 genomes]
rs72783634	1.00[ASN][1000 genomes]
rs7703522	1.00[ASN][1000 genomes]
rs7704087	1.00[ASN][1000 genomes]
rs7706160	1.00[ASN][1000 genomes]
rs7709484	1.00[ASN][1000 genomes]
rs7710973	1.00[ASN][1000 genomes]
rs7711158	1.00[ASN][1000 genomes]
rs7714258	0.99[EUR][1000 genomes]
rs7716309	1.00[ASN][1000 genomes]
rs7717160	1.00[ASN][1000 genomes]
rs7717363	1.00[ASN][1000 genomes]
rs7719346	1.00[ASN][1000 genomes]
rs7722291	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs821736	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs821738	0.99[EUR][1000 genomes]
rs821739	0.98[EUR][1000 genomes]
rs821746	0.87[EUR][1000 genomes]
rs821749	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs890757	1.00[ASN][1000 genomes]
rs890758	1.00[ASN][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	nsv1015302	chr5:111339022-111802947	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv537861	chr5:111339022-111802947	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking 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 lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv948869	chr5:111476404-111695183	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv531291	chr5:111497440-111756788	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv599371	chr5:111519018-111676755	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv1021530	chr5:111626266-111683317	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1028181	chr5:111628901-111683317	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv882714	chr5:111655382-111807579	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv462386	chr5:111667572-111699317	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv599372	chr5:111667572-111699317	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1896620	EPB41L4A	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111637400-111684600	Weak transcription	Aorta	Aorta
2	chr5:111653200-111674000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:111665400-111670600	Weak transcription	Hela-S3	cervix
4	chr5:111665400-111674600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr5:111665600-111674000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr5:111667200-111674000	Weak transcription	Esophagus	oesophagus
7	chr5:111667600-111671200	Weak transcription	Gastric	stomach
8	chr5:111669200-111670600	Enhancers	HUVEC	blood vessel
9	chr5:111669200-111670800	Weak transcription	Psoas Muscle	Psoas
10	chr5:111669200-111671600	Weak transcription	Lung	lung
11	chr5:111669200-111672400	Enhancers	Right Atrium	heart
12	chr5:111669400-111670800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:111669400-111673600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr5:111669400-111673600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr5:111669400-111674200	Weak transcription	Brain Hippocampus Middle	brain
16	chr5:111669400-111674400	Enhancers	Fetal Heart	heart
17	chr5:111669400-111676000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr5:111669400-111678000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:111669600-111674000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr5:111669600-111674000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr5:111669600-111674200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr5:111669600-111674200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr5:111669600-111674200	Weak transcription	Adipose Nuclei	Adipose
24	chr5:111669600-111674200	Weak transcription	Brain Cingulate Gyrus	brain
25	chr5:111669600-111674400	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr5:111669600-111677800	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr5:111669800-111670600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr5:111669800-111670800	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr5:111669800-111673200	Weak transcription	Right Ventricle	heart
30	chr5:111669800-111673600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr5:111669800-111673600	Weak transcription	Pancreas	Pancrea
32	chr5:111669800-111673800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr5:111669800-111674000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr5:111669800-111674200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr5:111669800-111674200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr5:111669800-111674200	Weak transcription	Brain Substantia Nigra	brain
37	chr5:111669800-111674400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:111669800-111674400	Weak transcription	Fetal Lung	lung
39	chr5:111669800-111683600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr5:111670000-111672600	Weak transcription	Fetal Brain Female	brain
41	chr5:111670000-111675800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr5:111670400-111670600	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr5:111670400-111672200	Enhancers	Left Ventricle	heart

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