Variant report

Variant	rs1865379
Chromosome Location	chr4:96080943-96080944
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	chr4:96076258..96078033-chr4:96079736..96082501,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10155123	0.80[EUR][1000 genomes]
rs10155222	0.81[EUR][1000 genomes]
rs10212627	0.80[EUR][1000 genomes]
rs10516958	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11097457	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12506402	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12640643	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12644188	0.80[EUR][1000 genomes]
rs12650281	0.80[EUR][1000 genomes]
rs1365691	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1369085	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1434535	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1434536	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1434538	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1434539	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1434544	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1540403	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17348139	0.81[EUR][1000 genomes]
rs1836261	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1863654	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1966548	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1970801	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2114533	0.86[EUR][1000 genomes]
rs2162450	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2241743	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2289044	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2865397	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3755876	0.80[EUR][1000 genomes]
rs3775042	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3796437	0.80[EUR][1000 genomes]
rs3796439	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3796443	0.80[EUR][1000 genomes]
rs3821964	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3857227	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3857228	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4583767	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58399580	0.80[EUR][1000 genomes]
rs6815969	0.87[EUR][1000 genomes]
rs7664562	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7694531	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs975608	0.80[EUR][1000 genomes]
rs989383	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932216	chr4:95501261-96109807	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1003860	chr4:95507683-96120619	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv869528	chr4:95537649-96368018	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv492312	chr4:95823124-96128327	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv830011	chr4:95947560-96103934	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv594907	chr4:95975470-96170439	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:96054200-96084000	Weak transcription	A549	lung
2	chr4:96059800-96100400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr4:96061200-96088800	Weak transcription	Aorta	Aorta
4	chr4:96061200-96088800	Weak transcription	Ovary	ovary
5	chr4:96076000-96082000	Weak transcription	Fetal Muscle Leg	muscle
6	chr4:96076600-96081400	Genic enhancers	Dnd41	blood
7	chr4:96076600-96084000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr4:96077200-96088200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr4:96077400-96084000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:96077800-96086000	Weak transcription	Thymus	Thymus
11	chr4:96079400-96086600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:96079400-96087400	Weak transcription	Fetal Lung	lung
13	chr4:96079400-96088600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:96079400-96089000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr4:96079600-96081400	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr4:96079800-96081200	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr4:96079800-96081200	Enhancers	Fetal Thymus	thymus
18	chr4:96079800-96081400	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr4:96079800-96081400	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr4:96079800-96081400	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr4:96080000-96086400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:96080200-96081000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr4:96080200-96081400	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr4:96080200-96083400	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr4:96080200-96084200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr4:96080200-96084200	Weak transcription	Brain Anterior Caudate	brain
27	chr4:96080200-96087400	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr4:96080400-96087400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr4:96080400-96088200	Weak transcription	Brain Angular Gyrus	brain
30	chr4:96080400-96098600	Weak transcription	Fetal Kidney	kidney
31	chr4:96080600-96081400	Weak transcription	Primary T cells from cord blood	blood
32	chr4:96080600-96082400	Weak transcription	Fetal Muscle Trunk	muscle
33	chr4:96080600-96085200	Strong transcription	Fetal Stomach	stomach
34	chr4:96080800-96081000	Enhancers	Brain Substantia Nigra	brain
35	chr4:96080800-96081200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr4:96080800-96081400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr4:96080800-96082200	Weak transcription	Brain Hippocampus Middle	brain

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