Variant report

Variant	rs73339924
Chromosome Location	chr7:5718604-5718605
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:5630491..5634130-chr7:5717559..5720896,4	K562	blood:
2	chr7:5696126..5698767-chr7:5718167..5720079,2	MCF-7	breast:
3	chr7:5708885..5710643-chr7:5716339..5719013,2	K562	blood:
4	chr7:5568974..5571444-chr7:5717596..5719378,2	K562	blood:
5	chr7:5716923..5718931-chr7:5730393..5732059,2	MCF-7	breast:
6	chr7:5533410..5535959-chr7:5717586..5719394,2	K562	blood:
7	chr7:5631406..5634130-chr7:5717559..5720896,4	K562	blood:
8	chr7:5567652..5570729-chr7:5716334..5720767,4	MCF-7	breast:
9	chr7:5603045..5605168-chr7:5716278..5719037,2	MCF-7	breast:
10	chr7:5561140..5562775-chr7:5716624..5718720,2	MCF-7	breast:
11	chr7:5707603..5710385-chr7:5717513..5719879,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000075618	Chromatin interaction
ENSG00000207973	Chromatin interaction
ENSG00000263900	Chromatin interaction
ENSG00000075624	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs57308117	1.00[AFR][1000 genomes]
rs58357556	0.87[AFR][1000 genomes]
rs58363330	1.00[AFR][1000 genomes]
rs60100761	1.00[AFR][1000 genomes]
rs60912551	0.81[AFR][1000 genomes]
rs73336204	0.88[AFR][1000 genomes]
rs73338056	1.00[AFR][1000 genomes]
rs73338057	1.00[AFR][1000 genomes]
rs73338065	1.00[AFR][1000 genomes]
rs73339926	0.89[AFR][1000 genomes]
rs73339928	0.89[AFR][1000 genomes]
rs73339931	1.00[AFR][1000 genomes]
rs73339935	1.00[AFR][1000 genomes]
rs73339936	1.00[AFR][1000 genomes]
rs73339944	1.00[AFR][1000 genomes]
rs73339951	1.00[AFR][1000 genomes]
rs73339962	1.00[AFR][1000 genomes]
rs73339967	1.00[AFR][1000 genomes]
rs73339969	1.00[AFR][1000 genomes]
rs73339973	0.89[AFR][1000 genomes]
rs73339992	1.00[AFR][1000 genomes]
rs73341611	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases
2	nsv530979	chr7:5101631-5864814	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
3	nsv530981	chr7:5157150-5920006	Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
4	nsv530983	chr7:5370746-6070852	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
5	nsv916391	chr7:5417945-5889565	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	336 gene(s)	inside rSNPs	diseases
6	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
7	nsv482449	chr7:5557585-5743673	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
8	nsv1033556	chr7:5565080-6186815	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
9	nsv538710	chr7:5565080-6186815	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
10	nsv530467	chr7:5617816-5815082	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
11	nsv1017612	chr7:5629728-5819144	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
12	nsv1021989	chr7:5629728-6186815	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
13	nsv887417	chr7:5667645-5760860	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
14	nsv887418	chr7:5675305-5772551	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
15	nsv887419	chr7:5703669-5820383	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
16	nsv1028652	chr7:5706207-5769489	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5674800-5728200	Weak transcription	Small Intestine	intestine
2	chr7:5691200-5721000	Weak transcription	Pancreas	Pancrea
3	chr7:5699200-5723000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr7:5702000-5730600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr7:5702400-5721400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr7:5702800-5727200	Weak transcription	Psoas Muscle	Psoas
7	chr7:5707600-5719000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:5707600-5721000	Weak transcription	Stomach Mucosa	stomach
9	chr7:5710800-5721200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr7:5712600-5719200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:5713000-5730200	Weak transcription	Gastric	stomach
12	chr7:5713200-5718800	Weak transcription	Thymus	Thymus
13	chr7:5713200-5719000	Weak transcription	Esophagus	oesophagus
14	chr7:5713200-5721400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr7:5713200-5724000	Weak transcription	Brain Germinal Matrix	brain
16	chr7:5713400-5720600	Weak transcription	HepG2	liver
17	chr7:5714000-5719200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:5715400-5723200	Enhancers	Adipose Nuclei	Adipose
19	chr7:5716000-5719000	Enhancers	Left Ventricle	heart
20	chr7:5716000-5720000	Enhancers	Rectal Smooth Muscle	rectum
21	chr7:5716000-5720600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:5716200-5719800	Genic enhancers	Fetal Stomach	stomach
23	chr7:5716200-5721800	Enhancers	Right Atrium	heart
24	chr7:5716400-5719000	Enhancers	GM12878-XiMat	blood
25	chr7:5716400-5719600	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr7:5716400-5722000	Enhancers	Fetal Heart	heart
27	chr7:5716600-5718800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr7:5716600-5719200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr7:5716600-5719800	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr7:5716600-5722400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr7:5716800-5719600	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr7:5716800-5719800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr7:5716800-5719800	Enhancers	Fetal Thymus	thymus
34	chr7:5716800-5720000	Enhancers	Liver	Liver
35	chr7:5716800-5724000	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr7:5717000-5720200	Genic enhancers	Fetal Intestine Small	intestine
37	chr7:5717000-5723200	Enhancers	Placenta	Placenta
38	chr7:5717200-5718800	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr7:5717200-5718800	Enhancers	Brain Hippocampus Middle	brain
40	chr7:5717200-5718800	Enhancers	A549	lung
41	chr7:5717200-5719000	Enhancers	Fetal Intestine Large	intestine
42	chr7:5717200-5719400	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr7:5717200-5723400	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr7:5717200-5726600	Genic enhancers	Fetal Muscle Leg	muscle
45	chr7:5717400-5719400	Genic enhancers	Primary T cells from cord blood	blood
46	chr7:5717400-5719600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr7:5717400-5719600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr7:5717400-5719600	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr7:5717400-5719800	Enhancers	Primary hematopoietic stem cells	blood
50	chr7:5717400-5719800	Enhancers	Fetal Lung	lung

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