Variant report

Variant	rs607775
Chromosome Location	chr11:75239492-75239493
allele	G/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	POLR2A	chr11:75239466-75239632	HepG2	liver:	n/a	n/a
2	PAX5	chr11:75239492-75239837	GM12878	blood:	n/a	chr11:75239684-75239693 chr11:75239677-75239694 chr11:75239676-75239695
3	PAX5	chr11:75239469-75239948	GM12878	blood:	n/a	chr11:75239684-75239693 chr11:75239677-75239694 chr11:75239676-75239695

No.	Distal block	Cell Line	Cell type
1	chr11:75109301..75113092-chr11:75238838..75241388,3	MCF-7	breast:
2	chr11:75239459..75242251-chr11:75245066..75247874,3	K562	blood:
3	chr11:75137530..75143776-chr11:75234822..75239544,9	MCF-7	breast:
4	chr11:75222954..75225318-chr11:75238533..75240384,2	K562	blood:
5	chr11:75094569..75097338-chr11:75239172..75241375,2	K562	blood:
6	chr11:75105345..75108167-chr11:75238788..75240390,2	K562	blood:
7	chr11:75237299..75240439-chr11:75240867..75243986,5	MCF-7	breast:
8	chr11:75155406..75158188-chr11:75239251..75241040,2	MCF-7	breast:
9	chr11:75232287..75234755-chr11:75237989..75239575,2	MCF-7	breast:

Variant related genes	Relation type
GDPD5	TF binding region
ENSG00000206941	Chromatin interaction
ENSG00000149243	Chromatin interaction
ENSG00000149273	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1557472	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1557473	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1630251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1631039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1783552	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs590260	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs600867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs604252	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs614227	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs615983	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs616422	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs630776	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs633602	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs634530	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs634890	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs686084	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7924708	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7934513	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7949062	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7949091	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv897923	chr11:75129007-75302855	Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75236600-75239800	Weak transcription	Fetal Heart	heart
2	chr11:75237600-75243400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr11:75237600-75245800	Weak transcription	Right Ventricle	heart
4	chr11:75237800-75239600	Weak transcription	Fetal Kidney	kidney
5	chr11:75237800-75242600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr11:75237800-75243200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:75237800-75243200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr11:75237800-75243200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr11:75237800-75243200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr11:75237800-75243200	Weak transcription	Hela-S3	cervix
11	chr11:75237800-75243200	Weak transcription	HUVEC	blood vessel
12	chr11:75237800-75243400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr11:75237800-75243600	Enhancers	HepG2	liver
14	chr11:75237800-75245000	Weak transcription	Adipose Nuclei	Adipose
15	chr11:75237800-75245400	Weak transcription	Fetal Lung	lung
16	chr11:75237800-75258800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:75238000-75239800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:75238000-75240000	Weak transcription	Spleen	Spleen
19	chr11:75238000-75240600	Weak transcription	K562	blood
20	chr11:75238000-75242400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr11:75238000-75242600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr11:75238000-75242600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr11:75238000-75243000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr11:75238000-75243000	Weak transcription	A549	lung
25	chr11:75238000-75243200	Weak transcription	Primary T cells from cord blood	blood
26	chr11:75238000-75243200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr11:75238000-75243200	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr11:75238000-75243200	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr11:75238000-75243200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr11:75238000-75243200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr11:75238000-75243200	Weak transcription	Fetal Intestine Small	intestine
32	chr11:75238000-75245000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr11:75238000-75245400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr11:75238000-75248400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr11:75238200-75239800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:75238200-75240200	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr11:75238200-75240400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr11:75238800-75239600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr11:75239000-75240000	Enhancers	Placenta	Placenta
40	chr11:75239200-75239600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr11:75239200-75240000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr11:75239200-75240200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
43	chr11:75239400-75239800	Enhancers	Fetal Intestine Large	intestine
44	chr11:75239400-75239800	Enhancers	GM12878-XiMat	blood
45	chr11:75239400-75240200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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