Variant report

Variant	rs73079014
Chromosome Location	chr3:49863483-49863484
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:49849959..49852646-chr3:49861904..49863696,2	K562	blood:
2	chr3:49846131..49848794-chr3:49861710..49864697,2	K562	blood:
3	chr3:49856385..49859179-chr3:49862480..49864961,2	K562	blood:

Variant related genes	Relation type
ENSG00000263651	Chromatin interaction
ENSG00000182179	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs34484573	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35441946	1.00[ASN][1000 genomes]
rs35917071	1.00[ASN][1000 genomes]
rs4395393	1.00[ASN][1000 genomes]
rs67070774	1.00[ASN][1000 genomes]
rs71325001	1.00[ASN][1000 genomes]
rs73074830	1.00[ASN][1000 genomes]
rs73074855	1.00[ASN][1000 genomes]
rs73077107	1.00[ASN][1000 genomes]
rs73077157	1.00[ASN][1000 genomes]
rs73079003	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1796352	chr3:49687101-49949959	Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv834688	chr3:49811115-50019299	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv1809827	chr3:49812331-49934179	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv876766	chr3:49817450-49961780	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv967270	chr3:49845381-49870409	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49843400-49866400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr3:49851800-49866000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr3:49852000-49864800	Weak transcription	Fetal Thymus	thymus
4	chr3:49852000-49865200	Weak transcription	Fetal Intestine Small	intestine
5	chr3:49852000-49866200	Weak transcription	Thymus	Thymus
6	chr3:49852400-49866000	Weak transcription	GM12878-XiMat	blood
7	chr3:49856200-49866200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr3:49857200-49865000	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr3:49857600-49865600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:49857800-49865000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr3:49858400-49865800	Weak transcription	Esophagus	oesophagus
12	chr3:49859400-49866200	Weak transcription	Fetal Muscle Trunk	muscle
13	chr3:49859600-49865000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr3:49859800-49865000	Weak transcription	Dnd41	blood
15	chr3:49860200-49864800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr3:49860400-49865000	Weak transcription	Fetal Stomach	stomach
17	chr3:49860600-49865000	Weak transcription	Fetal Muscle Leg	muscle
18	chr3:49860800-49866000	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr3:49860800-49866200	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr3:49861000-49865600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr3:49861200-49865200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr3:49861200-49866000	Weak transcription	NHLF	lung
23	chr3:49861200-49882200	Weak transcription	Primary B cells from cord blood	blood
24	chr3:49861200-49893200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr3:49861400-49865000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:49861400-49866400	Weak transcription	Duodenum Mucosa	Duodenum
27	chr3:49861800-49866200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr3:49861800-49866200	Weak transcription	NHEK	skin
29	chr3:49862000-49864800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr3:49862000-49866000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr3:49862000-49866200	Weak transcription	Spleen	Spleen
32	chr3:49862200-49865800	Weak transcription	Primary T cells from cord blood	blood
33	chr3:49862600-49864200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr3:49862600-49865800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr3:49862800-49865600	Weak transcription	Brain Germinal Matrix	brain
36	chr3:49863000-49863600	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr3:49863000-49865800	Weak transcription	Fetal Intestine Large	intestine
38	chr3:49863200-49863600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr3:49863200-49863600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr3:49863200-49863600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr3:49863200-49863600	Enhancers	Brain Hippocampus Middle	brain
42	chr3:49863200-49863800	Enhancers	Brain Cingulate Gyrus	brain
43	chr3:49863200-49866200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr3:49863200-49866200	Weak transcription	HepG2	liver
45	chr3:49863400-49863600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr3:49863400-49863800	Enhancers	Brain Angular Gyrus	brain
47	chr3:49863400-49863800	Flanking Active TSS	Brain Anterior Caudate	brain
48	chr3:49863400-49863800	Enhancers	Fetal Lung	lung
49	chr3:49863400-49865000	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr3:49863400-49865200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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