Variant report

Variant	rs181784
Chromosome Location	chr5:61746443-61746444
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:61698166..61701072-chr5:61746035..61747644,2	K562	blood:

Variant related genes	Relation type
ENSG00000086189	Chromatin interaction
ENSG00000086200	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs12654936	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12657950	0.80[AMR][1000 genomes]
rs13154549	0.80[AMR][1000 genomes]
rs13156073	0.82[ASN][1000 genomes]
rs13180572	0.95[AMR][1000 genomes]
rs153859	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs153860	0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs153864	0.84[ASN][1000 genomes]
rs153866	0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs153869	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs153873	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs16890869	0.95[AMR][1000 genomes]
rs173530	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs187624	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs190445	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2272291	0.82[ASN][1000 genomes]
rs2441115	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs246198	0.85[ASN][1000 genomes]
rs246200	0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2463079	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs247477	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs247480	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs247481	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs247484	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs255391	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs255392	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2650500	0.91[ASN][1000 genomes]
rs26619	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs26620	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs26626	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs26627	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs27090	0.89[ASN][1000 genomes]
rs32047	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs32053	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs32148	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs32149	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs32151	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs32152	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs32153	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs32156	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs32159	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs32162	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs32165	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs32167	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs32169	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs32170	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs32172	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs32173	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs32176	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs32177	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs32178	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs32180	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs32183	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs32184	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs32185	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs32189	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34496659	0.93[EUR][1000 genomes]
rs35011	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35012	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35054	0.91[ASN][1000 genomes]
rs35055	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs35058	0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs35079068	0.85[AMR][1000 genomes]
rs35961924	0.90[AMR][1000 genomes]
rs36030071	0.96[EUR][1000 genomes]
rs369624	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs40109	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs40290	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs40404	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs40579	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs417822	0.91[ASN][1000 genomes]
rs6893243	0.95[AMR][1000 genomes]
rs785665	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs785666	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs785667	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs814169	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024090	chr5:61258759-61921150	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2759345	chr5:61403138-61748912	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1020255	chr5:61451792-62031365	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv1027539	chr5:61457762-62000008	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv1033578	chr5:61606610-61911153	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv1025145	chr5:61624735-61824265	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv1029708	chr5:61625813-61877628	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
8	nsv881728	chr5:61630879-61857577	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	esv2757117	chr5:61649403-61748912	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
10	nsv598348	chr5:61650843-61895124	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
11	esv35035	chr5:61657943-61792243	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
12	nsv881729	chr5:61719506-61857577	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61709200-61770800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:61709400-61763400	Weak transcription	Aorta	Aorta
3	chr5:61709800-61746600	Weak transcription	Fetal Thymus	thymus
4	chr5:61709800-61769000	Weak transcription	NH-A	brain
5	chr5:61709800-61809200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr5:61714000-61746600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr5:61715000-61747200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr5:61722800-61770600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:61725800-61747200	Weak transcription	Thymus	Thymus
10	chr5:61726400-61747200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr5:61728200-61746800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr5:61728200-61752800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr5:61728400-61747400	Weak transcription	Osteobl	bone
14	chr5:61728400-61748200	Weak transcription	Lung	lung
15	chr5:61728400-61752800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr5:61728400-61763400	Weak transcription	Pancreas	Pancrea
17	chr5:61728400-61807600	Weak transcription	Psoas Muscle	Psoas
18	chr5:61728800-61746800	Weak transcription	HSMMtube	muscle
19	chr5:61728800-61748200	Weak transcription	Fetal Lung	lung
20	chr5:61728800-61763000	Weak transcription	Fetal Brain Female	brain
21	chr5:61728800-61838200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr5:61729600-61747400	Weak transcription	Right Ventricle	heart
23	chr5:61729600-61752800	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr5:61730000-61748000	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr5:61730000-61834200	Weak transcription	Gastric	stomach
26	chr5:61730200-61747200	Weak transcription	Left Ventricle	heart
27	chr5:61730200-61747600	Weak transcription	Brain Anterior Caudate	brain
28	chr5:61730800-61747200	Weak transcription	Ovary	ovary
29	chr5:61730800-61750200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr5:61731800-61764000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr5:61732200-61753200	Weak transcription	NHLF	lung
32	chr5:61732800-61805200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr5:61733200-61747400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr5:61733200-61756800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr5:61733600-61763000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr5:61738800-61763000	Weak transcription	Stomach Smooth Muscle	stomach
37	chr5:61739200-61747200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr5:61739200-61763000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr5:61739200-61763400	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr5:61739200-61862800	Weak transcription	Brain Substantia Nigra	brain
41	chr5:61739600-61747200	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr5:61739600-61787800	Weak transcription	Brain Cingulate Gyrus	brain
43	chr5:61739800-61747200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr5:61739800-61752600	Weak transcription	NHEK	skin
45	chr5:61739800-61752800	Weak transcription	HMEC	breast
46	chr5:61740000-61746800	Weak transcription	Brain Hippocampus Middle	brain
47	chr5:61740000-61747200	Weak transcription	Fetal Brain Male	brain
48	chr5:61741200-61747400	Weak transcription	Spleen	Spleen
49	chr5:61741600-61751200	Strong transcription	Primary B cells from peripheral blood	blood
50	chr5:61741600-61753400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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