Variant report

Variant	rs6792245
Chromosome Location	chr3:46606898-46606899
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:46530235..46530934-chr3:46606775..46607619,4	K562	blood:
2	chr3:46526283..46528703-chr3:46605275..46607340,2	K562	blood:
3	chr3:46604527..46607242-chr3:46610810..46613336,2	K562	blood:

Variant related genes	Relation type
ENSG00000012223	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11709309	0.84[EUR][1000 genomes]
rs11713702	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11714288	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11715694	0.80[EUR][1000 genomes]
rs11716682	0.87[CEU][hapmap]
rs11719804	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11919651	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17221752	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17221925	1.00[ASN][1000 genomes]
rs62248664	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62248667	0.80[EUR][1000 genomes]
rs6768992	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013306	chr3:46469014-46698538	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46600400-46607200	Weak transcription	Gastric	stomach
2	chr3:46601200-46607200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:46602000-46607000	Weak transcription	Liver	Liver
4	chr3:46602400-46607000	Weak transcription	Right Atrium	heart
5	chr3:46604600-46607000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr3:46604800-46607200	Enhancers	H1 Cell Line	embryonic stem cell
7	chr3:46604800-46607200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr3:46604800-46607200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr3:46604800-46607200	Weak transcription	Lung	lung
10	chr3:46605000-46607200	Weak transcription	Esophagus	oesophagus
11	chr3:46605200-46607000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr3:46605200-46607000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr3:46605400-46607000	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr3:46605800-46607200	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr3:46606000-46607000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr3:46606000-46607000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr3:46606200-46607000	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr3:46606200-46607000	Bivalent Enhancer	Fetal Muscle Leg	muscle
19	chr3:46606200-46607000	Bivalent Enhancer	Fetal Thymus	thymus
20	chr3:46606200-46607600	Enhancers	Spleen	Spleen
21	chr3:46606200-46608000	Active TSS	Left Ventricle	heart
22	chr3:46606200-46608400	Active TSS	Right Ventricle	heart
23	chr3:46606400-46607000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
24	chr3:46606400-46607000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr3:46606400-46607000	Bivalent Enhancer	Brain Hippocampus Middle	brain
26	chr3:46606400-46607000	Enhancers	HSMM	muscle
27	chr3:46606400-46607000	Enhancers	NH-A	brain
28	chr3:46606400-46607200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr3:46606400-46607200	Flanking Active TSS	Fetal Heart	heart
30	chr3:46606400-46607200	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
31	chr3:46606400-46607200	Flanking Active TSS	NHDF-Ad	bronchial
32	chr3:46606400-46607400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
33	chr3:46606400-46608200	Active TSS	Psoas Muscle	Psoas
34	chr3:46606600-46607000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
35	chr3:46606600-46607000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr3:46606600-46607000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr3:46606600-46607000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr3:46606600-46607000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr3:46606600-46607000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr3:46606600-46607000	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
41	chr3:46606600-46607000	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr3:46606600-46607000	Enhancers	Thymus	Thymus
43	chr3:46606600-46607200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr3:46606600-46607200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
45	chr3:46606600-46607200	Bivalent Enhancer	Fetal Stomach	stomach
46	chr3:46606600-46607400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr3:46606600-46607600	Flanking Active TSS	HSMMtube	muscle
48	chr3:46606600-46607800	Bivalent Enhancer	Fetal Brain Male	brain
49	chr3:46606600-46608000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr3:46606600-46608000	Active TSS	Brain Angular Gyrus	brain

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