Variant report

Variant	rs73483965
Chromosome Location	chr11:62479977-62479978
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:62479712-62480494	HepG2	liver:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:62478801..62480600-chr11:62621943..62623453,2	K562	blood:
2	chr11:62431038..62433428-chr11:62479339..62481020,3	K562	blood:
3	chr11:62435703..62437436-chr11:62479698..62482195,2	K562	blood:
4	chr11:62431038..62433428-chr11:62479339..62481464,4	K562	blood:
5	chr11:62444457..62447328-chr11:62478467..62482527,4	MCF-7	breast:
6	chr11:62477768..62480971-chr11:62606879..62609524,3	MCF-7	breast:
7	chr11:62478801..62481755-chr11:62620626..62623453,3	K562	blood:
8	chr11:62317852..62319388-chr11:62478445..62480684,2	K562	blood:

No data

Variant related genes	Relation type
BSCL2	TF binding region
ENSG00000255717	Chromatin interaction
ENSG00000162191	Chromatin interaction
ENSG00000162194	Chromatin interaction
ENSG00000214756	Chromatin interaction
ENSG00000206597	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000255432	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11231220	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12270342	1.00[AMR][1000 genomes]
rs12288417	1.00[AMR][1000 genomes]
rs12290152	1.00[AMR][1000 genomes]
rs12292281	1.00[AMR][1000 genomes]
rs12295052	1.00[AMR][1000 genomes]
rs12295516	1.00[AMR][1000 genomes]
rs28400288	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56994557	1.00[AMR][1000 genomes]
rs58003814	1.00[AMR][1000 genomes]
rs58505493	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58792209	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59143369	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61088491	1.00[AMR][1000 genomes]
rs73483955	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73483978	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73485621	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73485634	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73485689	1.00[AMR][1000 genomes]
rs73487820	1.00[AMR][1000 genomes]
rs73487823	1.00[AMR][1000 genomes]
rs73487824	1.00[AMR][1000 genomes]
rs73487852	1.00[AMR][1000 genomes]
rs73487868	1.00[AMR][1000 genomes]
rs73502144	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915636	chr11:62016992-62713565	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1441 gene(s)	inside rSNPs	diseases
2	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1433 gene(s)	inside rSNPs	diseases
3	nsv532284	chr11:62220043-62630253	Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1401 gene(s)	inside rSNPs	diseases
4	nsv497903	chr11:62330308-62608042	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	489 gene(s)	inside rSNPs	diseases
5	nsv555174	chr11:62334096-62496519	Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	243 gene(s)	inside rSNPs	diseases
6	nsv897623	chr11:62438819-62603916	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	215 gene(s)	inside rSNPs	diseases
7	nsv348	chr11:62474450-62519712	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
8	esv3335310	chr11:62479698-62480053	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	8 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62476200-62489200	Strong transcription	HepG2	liver
2	chr11:62476800-62480600	Strong transcription	K562	blood
3	chr11:62477000-62480600	Strong transcription	Hela-S3	cervix
4	chr11:62477400-62493000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr11:62477600-62480800	Weak transcription	Ovary	ovary
6	chr11:62477600-62489200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:62477800-62480000	Genic enhancers	Pancreas	Pancrea
8	chr11:62477800-62480400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr11:62477800-62481000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:62477800-62481000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:62477800-62481800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr11:62477800-62484200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr11:62477800-62484600	Genic enhancers	Fetal Intestine Large	intestine
14	chr11:62477800-62484800	Genic enhancers	Fetal Intestine Small	intestine
15	chr11:62477800-62487200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr11:62477800-62491000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr11:62477800-62491200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr11:62477800-62491400	Strong transcription	NHEK	skin
19	chr11:62477800-62491600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:62477800-62491600	Strong transcription	Thymus	Thymus
21	chr11:62477800-62491600	Strong transcription	NH-A	brain
22	chr11:62478000-62480000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr11:62478000-62480000	Genic enhancers	Liver	Liver
24	chr11:62478000-62480600	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr11:62478000-62481000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr11:62478000-62481000	Weak transcription	Right Ventricle	heart
27	chr11:62478000-62481000	Strong transcription	Sigmoid Colon	Sigmoid Colon
28	chr11:62478000-62481200	Strong transcription	NHLF	lung
29	chr11:62478000-62481800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr11:62478000-62482800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr11:62478000-62489400	Strong transcription	Fetal Lung	lung
32	chr11:62478000-62489600	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr11:62478000-62489600	Strong transcription	Esophagus	oesophagus
34	chr11:62478000-62491200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr11:62478000-62491200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr11:62478000-62491400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr11:62478000-62491400	Strong transcription	HMEC	breast
38	chr11:62478000-62491600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr11:62478000-62491600	Strong transcription	Fetal Kidney	kidney
40	chr11:62478000-62491600	Strong transcription	Osteobl	bone
41	chr11:62478000-62491800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr11:62478000-62491800	Strong transcription	Fetal Muscle Trunk	muscle
43	chr11:62478000-62491800	Strong transcription	HSMM	muscle
44	chr11:62478000-62492000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr11:62478000-62492200	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr11:62478200-62480200	Weak transcription	Small Intestine	intestine
47	chr11:62478200-62480400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr11:62478200-62480400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr11:62478200-62481200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr11:62478200-62481400	Genic enhancers	Primary T helper cells fromperipheralblood	blood

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