Variant report

Variant	rs73338057
Chromosome Location	chr7:5686433-5686434
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:5680737..5684059-chr7:5686375..5688909,3	MCF-7	breast:

Extended variants
information (count: 40 )
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]
rs73338065	1.00[AFR][1000 genomes]
rs73339924	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:18 , 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	nsv830890	chr7:5464933-5705158	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
7	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
8	nsv1025434	chr7:5537571-5705283	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	297 gene(s)	inside rSNPs	diseases
9	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
10	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
11	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
12	nsv887416	chr7:5584934-5695259	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
13	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
14	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
15	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
16	nsv1034883	chr7:5651680-5696147	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
17	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
18	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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5660600-5693800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:5674600-5688800	Weak transcription	Aorta	Aorta
3	chr7:5674800-5693600	Strong transcription	Dnd41	blood
4	chr7:5674800-5728200	Weak transcription	Small Intestine	intestine
5	chr7:5675000-5688000	Strong transcription	Primary B cells from peripheral blood	blood
6	chr7:5675400-5689400	Weak transcription	Psoas Muscle	Psoas
7	chr7:5676000-5693800	Strong transcription	Fetal Intestine Small	intestine
8	chr7:5676200-5689000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr7:5677000-5689200	Weak transcription	Ovary	ovary
10	chr7:5677000-5693400	Weak transcription	Right Atrium	heart
11	chr7:5677000-5701400	Weak transcription	Fetal Brain Male	brain
12	chr7:5677200-5689000	Weak transcription	Fetal Kidney	kidney
13	chr7:5677200-5689200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr7:5677200-5690600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr7:5677200-5707200	Weak transcription	Stomach Mucosa	stomach
16	chr7:5677400-5687600	Strong transcription	Duodenum Smooth Muscle	Duodenum
17	chr7:5677400-5689000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr7:5677400-5689200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr7:5677400-5689400	Weak transcription	Brain Substantia Nigra	brain
20	chr7:5677400-5690000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr7:5677400-5706200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr7:5677600-5689000	Weak transcription	Brain Angular Gyrus	brain
23	chr7:5677600-5689000	Weak transcription	NHLF	lung
24	chr7:5677600-5691800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr7:5677600-5693600	Strong transcription	Stomach Smooth Muscle	stomach
26	chr7:5677600-5694000	Strong transcription	Fetal Stomach	stomach
27	chr7:5677800-5689000	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr7:5677800-5689000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:5677800-5689000	Weak transcription	Pancreas	Pancrea
30	chr7:5678200-5688800	Weak transcription	Right Ventricle	heart
31	chr7:5679000-5688400	Weak transcription	Fetal Lung	lung
32	chr7:5679000-5689200	Weak transcription	Gastric	stomach
33	chr7:5679200-5706000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:5679400-5701600	Weak transcription	Fetal Heart	heart
35	chr7:5679800-5692800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr7:5680200-5688400	Weak transcription	Brain Germinal Matrix	brain
37	chr7:5680400-5689000	Weak transcription	Esophagus	oesophagus
38	chr7:5680800-5688600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr7:5681000-5688600	Weak transcription	Rectal Smooth Muscle	rectum
40	chr7:5681200-5689000	Weak transcription	K562	blood
41	chr7:5682200-5687600	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr7:5682400-5692800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr7:5682600-5688600	Weak transcription	Fetal Brain Female	brain
44	chr7:5683400-5686600	Weak transcription	Hela-S3	cervix
45	chr7:5683400-5689000	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr7:5683400-5697600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr7:5683600-5687000	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr7:5683600-5687000	Weak transcription	Placenta	Placenta
49	chr7:5683600-5687400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr7:5683600-5688400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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