Variant report

Variant	rs72813833
Chromosome Location	chr5:114578692-114578693
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	chr5:114578368..114580600-chr5:114597794..114600272,2	K562	blood:

Variant related genes	Relation type
ENSG00000164219	Chromatin interaction
ENSG00000271797	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs3805579	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56400472	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66611625	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66995219	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67430998	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68086593	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72813815	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72813817	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72813822	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72813826	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72813828	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72813830	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72813836	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72813838	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72813839	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72813840	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72813842	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72813844	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72813845	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72813846	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72813849	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72813852	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830454	chr5:114453864-114607159	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1029371	chr5:114541428-114590891	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	esv3452190	chr5:114578670-114578834	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114530600-114594400	Weak transcription	Pancreas	Pancrea
2	chr5:114539200-114580200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr5:114547800-114596600	Weak transcription	Brain Germinal Matrix	brain
4	chr5:114548400-114596800	Weak transcription	K562	blood
5	chr5:114549400-114597200	Weak transcription	Aorta	Aorta
6	chr5:114552200-114581800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr5:114555800-114579800	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr5:114557800-114579400	Weak transcription	Gastric	stomach
9	chr5:114558000-114579400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr5:114559000-114587600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:114559400-114579400	Weak transcription	Spleen	Spleen
12	chr5:114563400-114591600	Weak transcription	Brain Anterior Caudate	brain
13	chr5:114563400-114597600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr5:114565200-114597400	Weak transcription	Colonic Mucosa	Colon
15	chr5:114567400-114590600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr5:114567800-114589800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr5:114570200-114579800	Strong transcription	Primary B cells from cord blood	blood
18	chr5:114573400-114586000	Weak transcription	A549	lung
19	chr5:114573800-114579000	Weak transcription	NHLF	lung
20	chr5:114573800-114586000	Weak transcription	Brain Angular Gyrus	brain
21	chr5:114575000-114579200	Weak transcription	Fetal Intestine Small	intestine
22	chr5:114575000-114597000	Weak transcription	Fetal Stomach	stomach
23	chr5:114575800-114597000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr5:114576000-114579200	Weak transcription	Right Ventricle	heart
25	chr5:114576000-114596800	Weak transcription	Fetal Kidney	kidney
26	chr5:114576000-114596800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr5:114576200-114579800	Enhancers	HepG2	liver
28	chr5:114576200-114591000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr5:114576200-114596000	Weak transcription	Hela-S3	cervix
30	chr5:114576200-114596800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr5:114576400-114584000	Weak transcription	Primary hematopoietic stem cells	blood
32	chr5:114576400-114590600	Weak transcription	Ovary	ovary
33	chr5:114576400-114594400	Weak transcription	Lung	lung
34	chr5:114576600-114579200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr5:114576600-114582400	Weak transcription	Brain Hippocampus Middle	brain
36	chr5:114576600-114585000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr5:114576600-114586400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr5:114576600-114590800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr5:114576600-114593000	Weak transcription	HSMMtube	muscle
40	chr5:114576600-114596200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr5:114576600-114596400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr5:114576600-114597000	Weak transcription	Brain Substantia Nigra	brain
43	chr5:114576800-114578800	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr5:114576800-114579000	Weak transcription	Colon Smooth Muscle	Colon
45	chr5:114576800-114579000	Weak transcription	GM12878-XiMat	blood
46	chr5:114576800-114579400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr5:114576800-114579400	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr5:114576800-114579400	Weak transcription	Stomach Smooth Muscle	stomach
49	chr5:114576800-114585000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr5:114576800-114585000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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