Variant report

Variant	rs57099342
Chromosome Location	chr11:65726083-65726084
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr11:65725851-65726186	NB4	blood:	n/a	chr11:65726010-65726021 chr11:65726009-65726019 chr11:65726011-65726021

No.	Distal block	Cell Line	Cell type
1	chr11:65699308..65702229-chr11:65725345..65726917,2	MCF-7	breast:
2	chr11:65683165..65691632-chr11:65723620..65730701,28	MCF-7	breast:
3	chr11:65723943..65726098-chr11:65726720..65729599,3	MCF-7	breast:
4	chr11:65665429..65670947-chr11:65725068..65731705,14	MCF-7	breast:
5	chr11:65479277..65482595-chr11:65725720..65729556,3	MCF-7	breast:
6	chr11:65712713..65714464-chr11:65724212..65726864,2	MCF-7	breast:
7	chr11:65708763..65711558-chr11:65724262..65726531,2	MCF-7	breast:
8	chr11:65725324..65726831-chr11:65776264..65777958,2	MCF-7	breast:

Variant related genes	Relation type
SART1	TF binding region
ENSG00000175573	Chromatin interaction
ENSG00000175592	Chromatin interaction
ENSG00000175550	Chromatin interaction
ENSG00000172977	Chromatin interaction
ENSG00000175467	Chromatin interaction
ENSG00000175513	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs59908564	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60857277	1.00[EUR][1000 genomes]
rs7122843	1.00[EUR][1000 genomes]
rs7122964	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430401	chr11:65419324-65788024	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
2	nsv897761	chr11:65580638-65738566	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	186 gene(s)	inside rSNPs	diseases
3	nsv897762	chr11:65613218-65758854	Active TSS Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	185 gene(s)	inside rSNPs	diseases
4	nsv897765	chr11:65623708-65758854	Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
5	nsv832191	chr11:65632329-65806120	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
6	nsv948711	chr11:65692760-65949674	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
7	nsv897768	chr11:65715210-65842064	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65714000-65728400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr11:65714400-65728400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:65715400-65726200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:65715400-65728400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:65720200-65728200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:65722800-65728200	Weak transcription	NHEK	skin
7	chr11:65722800-65728400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:65724000-65726200	Enhancers	Fetal Thymus	thymus
9	chr11:65724600-65726400	Enhancers	Primary T cells fromperipheralblood	blood
10	chr11:65724600-65728200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr11:65724600-65728200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr11:65724600-65728400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr11:65724800-65726200	Enhancers	Primary B cells from peripheral blood	blood
14	chr11:65724800-65727600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr11:65724800-65727600	Weak transcription	Dnd41	blood
16	chr11:65724800-65728200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr11:65724800-65728200	Weak transcription	Hela-S3	cervix
18	chr11:65725000-65726400	Enhancers	Fetal Brain Male	brain
19	chr11:65725000-65728400	Weak transcription	Stomach Mucosa	stomach
20	chr11:65725200-65728200	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr11:65725200-65728200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr11:65725200-65728200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr11:65725200-65728200	Weak transcription	Thymus	Thymus
24	chr11:65725200-65728200	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr11:65725200-65728400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr11:65725200-65728400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr11:65725200-65728600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr11:65725200-65728600	Weak transcription	Spleen	Spleen
29	chr11:65725400-65726200	Weak transcription	HepG2	liver
30	chr11:65725400-65728200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr11:65725400-65728400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr11:65725400-65728400	Weak transcription	GM12878-XiMat	blood
33	chr11:65725400-65728600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr11:65725600-65728200	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr11:65725600-65728600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr11:65725800-65726200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr11:65725800-65726400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr11:65725800-65728400	Weak transcription	Primary T cells from cord blood	blood
39	chr11:65726000-65726200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr11:65726000-65727000	Enhancers	H1 Cell Line	embryonic stem cell
41	chr11:65726000-65727000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr11:65726000-65727000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr11:65726000-65727400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr11:65726000-65728200	Weak transcription	Primary B cells from cord blood	blood
45	chr11:65726000-65728200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr11:65726000-65728400	Weak transcription	Primary T helper cells PMA-I stimulated	--

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