Variant report

Variant	rs58092755
Chromosome Location	chr3:98310749-98310750
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:98240168..98242320-chr3:98310651..98312763,2	K562	blood:
2	chr3:98302949..98305459-chr3:98308547..98310946,2	K562	blood:

Variant related genes	Relation type
ENSG00000248839	Chromatin interaction
ENSG00000080822	Chromatin interaction
ENSG00000080819	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11918479	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11921054	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12152237	1.00[ASN][1000 genomes]
rs12152330	1.00[ASN][1000 genomes]
rs2061581	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55789072	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58961652	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60105848	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60339310	1.00[ASN][1000 genomes]
rs60690253	1.00[ASN][1000 genomes]
rs6784444	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6805687	1.00[ASN][1000 genomes]
rs72924748	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72924751	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72926840	1.00[ASN][1000 genomes]
rs72928862	1.00[ASN][1000 genomes]
rs72930920	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528056	chr3:98101101-98317836	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv520503	chr3:98102801-98317836	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv834775	chr3:98170059-98367552	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	esv3390386	chr3:98174549-98579953	Genic enhancers Strong transcription Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv591065	chr3:98204198-98766326	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv997484	chr3:98284283-98371420	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv1000357	chr3:98284283-98381473	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
8	nsv536661	chr3:98286588-98315764	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98292400-98311000	Weak transcription	Fetal Brain Male	brain
2	chr3:98293000-98311800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr3:98294400-98311000	Weak transcription	Stomach Mucosa	stomach
4	chr3:98294800-98311000	Weak transcription	Esophagus	oesophagus
5	chr3:98296600-98311200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:98296800-98310800	Weak transcription	NHLF	lung
7	chr3:98298200-98310800	Weak transcription	HUVEC	blood vessel
8	chr3:98299600-98311200	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr3:98300000-98311200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr3:98304400-98311600	Weak transcription	Aorta	Aorta
11	chr3:98304600-98310800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr3:98304600-98311400	Weak transcription	HSMMtube	muscle
13	chr3:98304800-98311000	Weak transcription	HSMM	muscle
14	chr3:98305000-98311600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr3:98305200-98311000	Weak transcription	Spleen	Spleen
16	chr3:98305200-98311600	Weak transcription	Gastric	stomach
17	chr3:98305400-98311000	Weak transcription	Thymus	Thymus
18	chr3:98305600-98311000	Weak transcription	Right Ventricle	heart
19	chr3:98307000-98311000	Weak transcription	A549	lung
20	chr3:98308400-98311000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr3:98308800-98311000	Weak transcription	Primary B cells from cord blood	blood
22	chr3:98308800-98311000	Weak transcription	Fetal Kidney	kidney
23	chr3:98308800-98311000	Weak transcription	Psoas Muscle	Psoas
24	chr3:98309000-98311000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr3:98309000-98311000	Weak transcription	Osteobl	bone
26	chr3:98309400-98311000	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr3:98309400-98311000	Weak transcription	Fetal Stomach	stomach
28	chr3:98309400-98311200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr3:98309600-98311000	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr3:98309600-98311000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:98309600-98311000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr3:98309600-98311000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr3:98309600-98311000	Active TSS	Brain Cingulate Gyrus	brain
34	chr3:98309600-98311000	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr3:98309600-98311000	Weak transcription	Duodenum Mucosa	Duodenum
36	chr3:98309600-98311000	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr3:98309600-98311000	Weak transcription	Fetal Muscle Leg	muscle
38	chr3:98309600-98311000	Weak transcription	Fetal Thymus	thymus
39	chr3:98309600-98311000	Weak transcription	Pancreas	Pancrea
40	chr3:98309600-98311000	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr3:98309600-98311000	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr3:98309600-98311000	Weak transcription	Stomach Smooth Muscle	stomach
43	chr3:98309600-98311400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr3:98309600-98311400	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr3:98309600-98311600	Weak transcription	Lung	lung
46	chr3:98309800-98311000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr3:98309800-98311000	Weak transcription	NHDF-Ad	bronchial
48	chr3:98309800-98311200	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr3:98310000-98310800	Enhancers	Muscle Satellite Cultured Cells	--
50	chr3:98310000-98310800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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