Variant report

Variant	rs3822517
Chromosome Location	chr5:118581778-118581779
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:118574799..118576857-chr5:118580303..118583195,3	K562	blood:
2	chr5:118580319..118581889-chr5:118587199..118590009,2	K562	blood:
3	chr5:118573504..118576319-chr5:118580787..118583650,2	K562	blood:
4	chr5:118581217..118584329-chr5:118602907..118604848,3	K562	blood:

Variant related genes	Relation type
ENSG00000145779	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10072072	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10075997	1.00[ASN][1000 genomes]
rs17144978	0.81[ASN][1000 genomes]
rs17145004	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17145010	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17145018	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17145034	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2055620	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2197797	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4421136	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6869894	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs73242987	0.81[ASN][1000 genomes]
rs73247091	1.00[ASN][1000 genomes]
rs73247093	1.00[ASN][1000 genomes]
rs7719887	1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462426	chr5:118465249-118621672	Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats 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 miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv599564	chr5:118465249-118621672	ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1016595	chr5:118468658-118621672	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1019788	chr5:118488501-118607405	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv537882	chr5:118488501-118607405	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1034616	chr5:118506348-118600391	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv1031914	chr5:118516878-118589497	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
8	esv2757136	chr5:118555863-118667748	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	esv2759374	chr5:118555863-118667748	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118486000-118588600	Weak transcription	Right Ventricle	heart
2	chr5:118489800-118591200	Weak transcription	Colonic Mucosa	Colon
3	chr5:118498000-118584200	Weak transcription	Spleen	Spleen
4	chr5:118503800-118585800	Weak transcription	NH-A	brain
5	chr5:118514400-118589000	Weak transcription	Pancreas	Pancrea
6	chr5:118514400-118591400	Weak transcription	Esophagus	oesophagus
7	chr5:118524600-118584200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr5:118535000-118584800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr5:118535000-118587400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:118535000-118588200	Weak transcription	Lung	lung
11	chr5:118535000-118589000	Weak transcription	Aorta	Aorta
12	chr5:118538200-118581800	Weak transcription	Brain Hippocampus Middle	brain
13	chr5:118538200-118586600	Weak transcription	Brain Substantia Nigra	brain
14	chr5:118538200-118590600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr5:118539200-118590000	Weak transcription	Fetal Kidney	kidney
16	chr5:118539200-118591000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr5:118544600-118591400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr5:118550000-118588800	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr5:118551800-118582400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr5:118555000-118583400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr5:118555000-118586800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr5:118555200-118582200	Weak transcription	HUVEC	blood vessel
23	chr5:118555200-118583400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr5:118555200-118588800	Weak transcription	NHDF-Ad	bronchial
25	chr5:118555200-118590800	Weak transcription	Hela-S3	cervix
26	chr5:118556400-118584000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr5:118556600-118582600	Weak transcription	HSMMtube	muscle
28	chr5:118556800-118587400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr5:118557400-118591400	Weak transcription	HepG2	liver
30	chr5:118558400-118588400	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr5:118558600-118588800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:118559400-118589800	Weak transcription	HSMM	muscle
33	chr5:118561000-118584800	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr5:118562800-118582400	Weak transcription	Psoas Muscle	Psoas
35	chr5:118562800-118584400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr5:118566000-118589200	Weak transcription	A549	lung
37	chr5:118568400-118585000	Weak transcription	Osteobl	bone
38	chr5:118570200-118590400	Weak transcription	Left Ventricle	heart
39	chr5:118570400-118588600	Weak transcription	Brain Angular Gyrus	brain
40	chr5:118570800-118583000	Weak transcription	Fetal Muscle Trunk	muscle
41	chr5:118570800-118589000	Weak transcription	GM12878-XiMat	blood
42	chr5:118570800-118589600	Weak transcription	Fetal Brain Female	brain
43	chr5:118570800-118590200	Weak transcription	Fetal Muscle Leg	muscle
44	chr5:118570800-118590800	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr5:118570800-118591000	Weak transcription	Thymus	Thymus
46	chr5:118571200-118591400	Weak transcription	Placenta	Placenta
47	chr5:118571400-118587200	Weak transcription	Colon Smooth Muscle	Colon
48	chr5:118571400-118588600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr5:118571600-118586600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr5:118571600-118589000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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