Variant report

Variant	rs10791822
Chromosome Location	chr11:65428706-65428707
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:65428366-65431647	GM12878	blood:	n/a	n/a
2	HCFC1	chr11:65428690-65431781	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr11:65428526-65428757	GM12878	blood:	n/a	n/a
4	POLR2A	chr11:65428390-65428766	K562	blood:	n/a	n/a
5	POLR2A	chr11:65428425-65431400	HepG2	liver:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65412642..65414860-chr11:65428206..65431618,3	MCF-7	breast:
2	chr11:65380932..65386957-chr11:65428679..65431812,7	MCF-7	breast:
3	chr11:65428607..65431563-chr11:65477387..65481608,5	MCF-7	breast:
4	chr11:65423887..65432217-chr11:65622069..65628988,12	K562	blood:
5	chr11:65428607..65430796-chr11:65768393..65771088,2	K562	blood:
6	chr11:65336349..65338989-chr11:65428353..65432348,4	MCF-7	breast:
7	chr11:65381571..65386287-chr11:65427993..65433260,8	MCF-7	breast:

No data

Variant related genes	Relation type
RELA	TF binding region
ENSG00000172757	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000175376	Chromatin interaction
ENSG00000213445	Chromatin interaction
ENSG00000260233	Chromatin interaction
ENSG00000175334	Chromatin interaction
ENSG00000172977	Chromatin interaction
ENSG00000173327	Chromatin interaction
ENSG00000173465	Chromatin interaction
ENSG00000197136	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1073602	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1074155	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1074156	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10896025	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10896026	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10896028	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10896032	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10896033	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10896034	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10896035	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10896037	0.83[ASN][1000 genomes]
rs10896038	0.83[ASN][1000 genomes]
rs11227251	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227254	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227279	0.83[ASN][1000 genomes]
rs11227281	0.83[ASN][1000 genomes]
rs11532071	0.83[ASN][1000 genomes]
rs11537193	0.83[ASN][1000 genomes]
rs11568300	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11600918	0.83[ASN][1000 genomes]
rs11601509	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11604568	0.83[ASN][1000 genomes]
rs11606947	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12225620	0.83[ASN][1000 genomes]
rs12289836	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12576766	0.89[ASN][1000 genomes]
rs12802391	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1466462	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2236682	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2306362	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28464085	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4014192	0.83[ASN][1000 genomes]
rs4014195	0.83[ASN][1000 genomes]
rs4645927	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4645933	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4930312	0.83[ASN][1000 genomes]
rs4930313	0.83[ASN][1000 genomes]
rs56686587	0.83[ASN][1000 genomes]
rs60626743	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61893835	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61895665	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6591185	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6591187	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6591188	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7110576	0.83[ASN][1000 genomes]
rs7115734	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7120713	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7123489	0.86[ASN][1000 genomes]
rs746429	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7924510	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7930301	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7947604	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7952133	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9666878	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897716	chr11:65083491-65481166	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS 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	999 gene(s)	inside rSNPs	diseases
2	nsv897718	chr11:65140209-65577516	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1003 gene(s)	inside rSNPs	diseases
3	nsv541071	chr11:65142779-65429352	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	984 gene(s)	inside rSNPs	diseases
4	nsv897720	chr11:65213434-65445950	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	665 gene(s)	inside rSNPs	diseases
5	nsv897722	chr11:65278461-65436888	Genic enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
6	nsv897723	chr11:65294830-65481166	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
7	nsv468600	chr11:65335705-65431360	Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
8	nsv555214	chr11:65335705-65431360	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
9	nsv897733	chr11:65335705-65431360	Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Weak 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	92 gene(s)	inside rSNPs	diseases
10	nsv897734	chr11:65335705-65436888	Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
11	nsv897735	chr11:65335705-65481166	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
12	nsv897736	chr11:65335705-65676516	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
13	nsv897747	chr11:65353906-65481166	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
14	nsv897748	chr11:65392695-65466911	Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
15	nsv897754	chr11:65405300-65436888	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS 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	59 gene(s)	inside rSNPs	diseases
16	nsv897755	chr11:65405300-65481166	Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
17	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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65420800-65429800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:65421200-65428800	Strong transcription	Fetal Brain Female	brain
3	chr11:65421200-65429000	Strong transcription	HUES48 Cell Line	embryonic stem cell
4	chr11:65421200-65429000	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr11:65421200-65429000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
6	chr11:65421200-65429400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr11:65421400-65428800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr11:65421400-65428800	Strong transcription	Placenta Amnion	Placenta Amnion
9	chr11:65421400-65429000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:65421400-65429200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr11:65421600-65428800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr11:65421600-65428800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:65421600-65428800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr11:65421600-65428800	Strong transcription	Rectal Smooth Muscle	rectum
15	chr11:65421600-65428800	Strong transcription	A549	lung
16	chr11:65421600-65428800	Strong transcription	HSMM	muscle
17	chr11:65421600-65428800	Strong transcription	Osteobl	bone
18	chr11:65421600-65429000	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr11:65421600-65429000	Strong transcription	Lung	lung
20	chr11:65421600-65429200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:65421600-65429200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
22	chr11:65421800-65429000	Strong transcription	H1 Cell Line	embryonic stem cell
23	chr11:65421800-65429000	Strong transcription	HSMMtube	muscle
24	chr11:65422000-65428800	Strong transcription	Brain Angular Gyrus	brain
25	chr11:65422000-65428800	Strong transcription	Ovary	ovary
26	chr11:65422000-65428800	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr11:65422200-65428800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr11:65422200-65428800	Strong transcription	Fetal Lung	lung
29	chr11:65422400-65429000	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr11:65422600-65428800	Strong transcription	H9 Cell Line	embryonic stem cell
31	chr11:65422600-65428800	Strong transcription	Fetal Thymus	thymus
32	chr11:65422600-65428800	Strong transcription	NH-A	brain
33	chr11:65422600-65429000	Strong transcription	K562	blood
34	chr11:65422800-65428800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr11:65422800-65428800	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr11:65422800-65428800	Strong transcription	Colonic Mucosa	Colon
37	chr11:65422800-65428800	Strong transcription	Fetal Intestine Small	intestine
38	chr11:65422800-65428800	Strong transcription	Hela-S3	cervix
39	chr11:65422800-65428800	Strong transcription	HUVEC	blood vessel
40	chr11:65422800-65429000	Strong transcription	Fetal Intestine Large	intestine
41	chr11:65422800-65429000	Strong transcription	Fetal Muscle Trunk	muscle
42	chr11:65423000-65428800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr11:65425000-65429800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr11:65425200-65429200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr11:65426200-65429200	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr11:65426600-65428800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
47	chr11:65426600-65429000	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr11:65426600-65429000	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr11:65426600-65429200	Genic enhancers	Primary T cells fromperipheralblood	blood
50	chr11:65426800-65429200	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood

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