Variant report

Variant	rs3762022
Chromosome Location	chr7:80551005-80551006
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr7:80550102-80551058	A549	lung:	n/a	n/a
2	GATA3	chr7:80549952-80551160	MCF-7	breast:	n/a	n/a
3	POLR2A	chr7:80550223-80551046	PANC-1	pancreas:	n/a	n/a
4	GATA3	chr7:80550089-80551016	MCF-7	breast:	n/a	n/a
5	FOXM1	chr7:80550080-80551012	MCF-7	breast:	n/a	n/a
6	POLR2A	chr7:80547193-80551247	PANC-1	pancreas:	n/a	n/a
7	POLR2A	chr7:80542371-80551951	MCF-7	breast:	n/a	n/a
8	RAD21	chr7:80547381-80551152	SK-N-SH	brain:	n/a	chr7:80548620-80548634 chr7:80549631-80549650
9	CEBPB	chr7:80550210-80551049	MCF-7	breast:	n/a	chr7:80550776-80550789 chr7:80550544-80550557
10	SIN3AK20	chr7:80547324-80551268	MCF-7	breast:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:80453386..80455160-chr7:80549437..80551338,2	MCF-7	breast:
2	chr7:80548724..80552228-chr7:81092186..81095551,3	MCF-7	breast:
3	chr7:80550795..80553784-chr7:81092068..81094746,3	MCF-7	breast:
4	chr7:80546356..80552735-chr7:80798673..80805379,14	MCF-7	breast:
5	chr7:80546517..80551479-chr7:80801945..80805775,5	MCF-7	breast:
6	chr17:65030555..65033441-chr7:80548839..80551076,2	MCF-7	breast:
7	chr10:134209437..134211118-chr7:80550680..80552193,2	MCF-7	breast:
8	chr7:80549638..80551457-chr7:81096415..81098240,2	MCF-7	breast:
9	chr1:149857039..149859334-chr7:80548386..80551320,2	MCF-7	breast:
10	chr7:80549186..80551426-chr7:81023686..81025197,2	MCF-7	breast:
11	chr7:80549472..80551455-chr7:80599232..80601743,2	MCF-7	breast:
12	chr7:80549150..80551514-chr7:80899704..80901338,2	MCF-7	breast:

No data

Variant related genes	Relation type
SEMA3C	TF binding region
ENSG00000171813	Chromatin interaction
ENSG00000232968	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000237896	Chromatin interaction
ENSG00000184678	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17154601	1.00[EUR][1000 genomes]
rs61003790	1.00[EUR][1000 genomes]
rs72612627	1.00[EUR][1000 genomes]
rs72612628	1.00[EUR][1000 genomes]
rs72612629	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888524	chr7:80107798-80723062	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1028776	chr7:80414636-80555284	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS 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	15 gene(s)	inside rSNPs	diseases
3	nsv1034690	chr7:80520004-80987682	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80548400-80552600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr7:80548400-80570000	Weak transcription	Gastric	stomach
3	chr7:80548800-80552600	Weak transcription	Fetal Heart	heart
4	chr7:80549200-80551400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr7:80549200-80552400	Weak transcription	Fetal Muscle Leg	muscle
6	chr7:80549200-80565000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:80549400-80552400	Weak transcription	Fetal Kidney	kidney
8	chr7:80549400-80552600	Weak transcription	Psoas Muscle	Psoas
9	chr7:80549400-80553600	Weak transcription	Colonic Mucosa	Colon
10	chr7:80549400-80554400	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr7:80549600-80551800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr7:80549600-80552000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr7:80549600-80553600	Enhancers	Fetal Intestine Large	intestine
14	chr7:80549600-80553800	Enhancers	Fetal Intestine Small	intestine
15	chr7:80549600-80554000	Enhancers	Rectal Mucosa Donor 29	rectum
16	chr7:80549800-80551600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr7:80549800-80552400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:80549800-80553800	Weak transcription	Colon Smooth Muscle	Colon
19	chr7:80550000-80551800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr7:80550200-80553800	Enhancers	Stomach Mucosa	stomach
21	chr7:80550400-80551400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr7:80550600-80551600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr7:80550800-80552000	Weak transcription	Fetal Lung	lung
24	chr7:80551000-80551200	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr7:80551000-80551200	Genic enhancers	A549	lung
26	chr7:80551000-80551200	Weak transcription	Osteobl	bone
27	chr7:80551000-80552200	Weak transcription	Small Intestine	intestine
28	chr7:80551000-80552600	Weak transcription	HMEC	breast
29	chr7:80551000-80552800	Enhancers	NHEK	skin
30	chr7:80551000-80553400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr7:80551000-80556200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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