Variant report

Variant	rs619701
Chromosome Location	chr11:65772080-65772081
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:65768990-65772628	GM12878	blood:	n/a	n/a
2	POLR2A	chr11:65771654-65772178	GM12878	blood:	n/a	n/a
3	POLR2A	chr11:65771822-65772096	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr11:65771689-65774819	HepG2	liver:	n/a	n/a
5	POLR2A	chr11:65771570-65772311	K562	blood:	n/a	n/a
6	POLR2A	chr11:65771623-65772150	GM12891	blood:	n/a	n/a
7	POLR2A	chr11:65771558-65775410	PANC-1	pancreas:	n/a	n/a
8	POLR2A	chr11:65770786-65772259	GM12892	blood:	n/a	n/a
9	POLR2A	chr11:65771616-65772140	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr11:65771749-65772173	K562	blood:	n/a	n/a
11	POLR2A	chr11:65771022-65772233	GM12892	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65772051..65774698-chr11:65790348..65792220,2	MCF-7	breast:
2	chr11:65771907..65774100-chr11:65786406..65788700,2	MCF-7	breast:
3	chr11:65769812..65778104-chr11:65786537..65794453,15	K562	blood:
4	chr11:65768121..65772581-chr11:65835630..65838620,4	MCF-7	breast:
5	chr11:65771026..65774019-chr11:65782878..65784960,2	MCF-7	breast:
6	chr11:65771785..65773874-chr11:65806005..65808785,2	K562	blood:
7	chr11:65771750..65774477-chr11:65818494..65820142,2	MCF-7	breast:
8	chr11:65652640..65657924-chr11:65769844..65772901,4	MCF-7	breast:
9	chr11:65623413..65628719-chr11:65768360..65773657,11	MCF-7	breast:

No data

Variant related genes	Relation type
EIF1AD	TF binding region
ENSG00000175602	Chromatin interaction
ENSG00000255038	Chromatin interaction
ENSG00000087365	Chromatin interaction
ENSG00000172500	Chromatin interaction
ENSG00000175115	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000175294	Chromatin interaction
ENSG00000172757	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1151510	1.00[EUR][1000 genomes]
rs1151511	0.92[EUR][1000 genomes]
rs1151514	1.00[EUR][1000 genomes]
rs1191716	1.00[EUR][1000 genomes]
rs1192184	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1204011	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1786172	1.00[EUR][1000 genomes]
rs1786174	0.83[EUR][1000 genomes]
rs502363	1.00[EUR][1000 genomes]
rs506873	1.00[EUR][1000 genomes]
rs507672	1.00[EUR][1000 genomes]
rs522553	1.00[EUR][1000 genomes]
rs534201	0.99[EUR][1000 genomes]
rs540584	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs543952	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs548435	0.83[EUR][1000 genomes]
rs548495	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs549334	1.00[EUR][1000 genomes]
rs586921	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs590531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs610497	0.81[EUR][1000 genomes]
rs615646	1.00[EUR][1000 genomes]
rs616073	0.87[EUR][1000 genomes]
rs622779	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs632640	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs645571	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs668210	0.81[EUR][1000 genomes]
rs677350	0.99[EUR][1000 genomes]
rs684546	0.83[EUR][1000 genomes]
rs7933510	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
3	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
4	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
5	nsv897769	chr11:65727799-65828625	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
6	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65770600-65773800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:65770800-65774200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr11:65770800-65775200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:65771000-65772200	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:65771000-65773200	Strong transcription	Sigmoid Colon	Sigmoid Colon
6	chr11:65771000-65774000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:65771000-65774600	Strong transcription	Thymus	Thymus
8	chr11:65771000-65776000	Weak transcription	Small Intestine	intestine
9	chr11:65771000-65779000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr11:65771000-65779000	Weak transcription	Aorta	Aorta
11	chr11:65771200-65772200	Strong transcription	Gastric	stomach
12	chr11:65771200-65772200	Strong transcription	K562	blood
13	chr11:65771200-65772400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr11:65771200-65772600	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr11:65771200-65772800	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:65771200-65773000	Weak transcription	Fetal Kidney	kidney
17	chr11:65771200-65773200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr11:65771200-65773200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr11:65771200-65773200	Strong transcription	Colon Smooth Muscle	Colon
20	chr11:65771200-65773400	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr11:65771200-65773400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr11:65771200-65773400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr11:65771200-65773400	Strong transcription	Brain Hippocampus Middle	brain
24	chr11:65771200-65773400	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr11:65771200-65773600	Strong transcription	Primary B cells from peripheral blood	blood
26	chr11:65771200-65773600	Strong transcription	Osteobl	bone
27	chr11:65771200-65773800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr11:65771200-65773800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr11:65771200-65773800	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr11:65771200-65773800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr11:65771200-65774000	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr11:65771200-65774000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr11:65771200-65774000	Strong transcription	Fetal Lung	lung
34	chr11:65771200-65774000	Strong transcription	NHEK	skin
35	chr11:65771200-65774200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr11:65771200-65774200	Strong transcription	Primary T cells from cord blood	blood
37	chr11:65771200-65774200	Strong transcription	Brain Germinal Matrix	brain
38	chr11:65771200-65774200	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr11:65771200-65774400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr11:65771200-65774400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr11:65771200-65774400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr11:65771200-65774400	Strong transcription	Fetal Brain Female	brain
43	chr11:65771200-65774400	Strong transcription	Placenta	Placenta
44	chr11:65771200-65774400	Strong transcription	Lung	lung
45	chr11:65771200-65774400	Strong transcription	NHLF	lung
46	chr11:65771200-65774800	Strong transcription	Fetal Stomach	stomach
47	chr11:65771200-65775400	Weak transcription	HUVEC	blood vessel
48	chr11:65771200-65779000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr11:65771200-65779200	Weak transcription	Right Atrium	heart
50	chr11:65771400-65772200	Strong transcription	H9 Cell Line	embryonic stem cell

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