Variant report

Variant	rs1790079
Chromosome Location	chr11:72937199-72937200
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:72523273..72527057-chr11:72937131..72939927,3	MCF-7	breast:
2	chr11:72909923..72912508-chr11:72937140..72938650,2	MCF-7	breast:
3	chr11:72936171..72938814-chr11:72941507..72943078,2	K562	blood:
4	chr11:72503643..72506382-chr11:72935261..72937531,2	MCF-7	breast:
5	chr11:72935321..72937353-chr11:73087469..73089491,2	K562	blood:
6	chr11:72935934..72938365-chr11:72952035..72953904,2	K562	blood:
7	chr11:72491387..72492889-chr11:72936381..72939114,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000186635	Chromatin interaction
ENSG00000054967	Chromatin interaction
ENSG00000168010	Chromatin interaction
ENSG00000214530	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11824116	1.00[EUR][1000 genomes]
rs1790078	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1790082	1.00[EUR][1000 genomes]
rs4536255	1.00[EUR][1000 genomes]
rs57741648	1.00[EUR][1000 genomes]
rs7123525	1.00[EUR][1000 genomes]
rs73538714	1.00[EUR][1000 genomes]
rs7935982	1.00[EUR][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	nsv1053737	chr11:72838564-72956847	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv832208	chr11:72876184-73091003	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
3	nsv1038032	chr11:72925347-72966442	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv518659	chr11:72934619-72946020	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
5	esv1821041	chr11:72937162-73113080	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72930000-72938400	Weak transcription	Gastric	stomach
2	chr11:72930000-72938400	Weak transcription	Pancreas	Pancrea
3	chr11:72930600-72938800	Weak transcription	A549	lung
4	chr11:72930600-72944200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr11:72931000-72938400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr11:72931200-72938600	Weak transcription	Colonic Mucosa	Colon
7	chr11:72932800-72937200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:72932800-72937600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr11:72933000-72938600	Weak transcription	Fetal Intestine Large	intestine
10	chr11:72933600-72938600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:72934400-72941600	Enhancers	Placenta	Placenta
12	chr11:72934600-72938600	Weak transcription	Duodenum Mucosa	Duodenum
13	chr11:72934600-72941600	Enhancers	Placenta Amnion	Placenta Amnion
14	chr11:72934800-72939800	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr11:72935200-72937200	Enhancers	Lung	lung
16	chr11:72935400-72938600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:72935800-72937200	Enhancers	Fetal Heart	heart
18	chr11:72935800-72939600	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr11:72936000-72941400	Enhancers	Left Ventricle	heart
20	chr11:72936200-72937200	Enhancers	Spleen	Spleen
21	chr11:72936200-72938400	Weak transcription	Fetal Intestine Small	intestine
22	chr11:72936200-72939400	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr11:72936400-72938400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr11:72936400-72947200	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr11:72936400-72953400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr11:72936600-72939400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr11:72936600-72940000	Weak transcription	Right Atrium	heart
28	chr11:72936600-72945800	Weak transcription	Psoas Muscle	Psoas
29	chr11:72936800-72937800	Genic enhancers	Esophagus	oesophagus
30	chr11:72936800-72938400	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr11:72936800-72941600	Enhancers	Right Ventricle	heart
32	chr11:72937000-72937200	Enhancers	Fetal Lung	lung
33	chr11:72937000-72937200	Enhancers	HMEC	breast
34	chr11:72937000-72941400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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