Variant report

Variant	rs67232706
Chromosome Location	chr11:65727607-65727608
allele	G/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:12)
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	chr11:65727565-65727930	GM12878	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65626619..65631270-chr11:65726316..65731782,7	MCF-7	breast:
2	chr11:65639574..65641528-chr11:65727414..65728994,2	MCF-7	breast:
3	chr11:65707684..65710207-chr11:65726207..65729046,2	MCF-7	breast:
4	chr11:65683165..65691632-chr11:65723620..65730701,28	MCF-7	breast:
5	chr11:65727573..65729443-chr11:65745539..65747244,2	MCF-7	breast:
6	chr11:65711820..65714224-chr11:65726908..65729048,2	MCF-7	breast:
7	chr11:65665429..65670947-chr11:65725068..65731705,14	MCF-7	breast:
8	chr11:65654573..65660022-chr11:65726606..65732418,16	MCF-7	breast:
9	chr11:65479277..65482595-chr11:65725720..65729556,3	MCF-7	breast:
10	chr11:65684149..65688321-chr11:65727274..65731998,8	MCF-7	breast:
11	chr11:65650800..65661192-chr11:65726307..65736419,31	MCF-7	breast:
12	chr11:65312318..65314153-chr11:65727479..65730326,3	MCF-7	breast:

No data

Variant related genes	Relation type
SART1	TF binding region
ENSG00000172638	Chromatin interaction
ENSG00000175602	Chromatin interaction
ENSG00000175467	Chromatin interaction
ENSG00000175573	Chromatin interaction
ENSG00000175550	Chromatin interaction
ENSG00000172500	Chromatin interaction
ENSG00000175592	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000172977	Chromatin interaction
ENSG00000175513	Chromatin interaction
ENSG00000168056	Chromatin interaction
ENSG00000172732	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10791831	0.83[ASN][1000 genomes]
rs10896065	0.81[ASN][1000 genomes]
rs11542177	0.83[ASN][1000 genomes]
rs11545221	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12099125	0.83[ASN][1000 genomes]
rs12099359	0.83[ASN][1000 genomes]
rs12574568	0.89[ASN][1000 genomes]
rs12575004	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12575514	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12575735	0.96[ASN][1000 genomes]
rs12576095	0.86[ASN][1000 genomes]
rs12576287	0.90[ASN][1000 genomes]
rs12576319	0.83[ASN][1000 genomes]
rs12577165	0.86[ASN][1000 genomes]
rs12577625	0.97[ASN][1000 genomes]
rs2276015	0.94[ASN][1000 genomes]
rs2276017	0.89[ASN][1000 genomes]
rs2277305	0.89[ASN][1000 genomes]
rs28372938	0.97[ASN][1000 genomes]
rs3825068	0.89[ASN][1000 genomes]
rs565921	1.00[EUR][1000 genomes]
rs57968007	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58192075	0.83[ASN][1000 genomes]
rs58905199	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59156593	0.87[EUR][1000 genomes]
rs59768626	1.00[EUR][1000 genomes]
rs61515492	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs653955	0.83[ASN][1000 genomes]
rs67530871	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72928826	0.87[EUR][1000 genomes]
rs72928828	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72928830	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72928831	0.94[AFR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72928860	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72928879	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72928884	0.90[ASN][1000 genomes]
rs72928898	0.90[ASN][1000 genomes]
rs72928900	0.90[ASN][1000 genomes]
rs72930914	0.89[ASN][1000 genomes]
rs72930933	0.89[ASN][1000 genomes]
rs72930942	0.89[ASN][1000 genomes]
rs72930945	0.89[ASN][1000 genomes]
rs72930951	0.89[ASN][1000 genomes]
rs72930952	0.89[ASN][1000 genomes]
rs72930956	0.89[ASN][1000 genomes]
rs72930964	0.89[ASN][1000 genomes]
rs72930967	0.89[ASN][1000 genomes]
rs72930974	0.89[ASN][1000 genomes]
rs72930985	0.81[ASN][1000 genomes]
rs73496412	0.83[ASN][1000 genomes]
rs73496423	0.81[ASN][1000 genomes]
rs73496424	0.83[ASN][1000 genomes]
rs73496435	0.83[ASN][1000 genomes]
rs7927841	0.89[ASN][1000 genomes]
rs7940700	0.81[ASN][1000 genomes]
rs9326362	0.83[ASN][1000 genomes]
rs9919533	0.81[ASN][1000 genomes]
rs9943575	0.93[ASN][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:51 , 50 per page) page: 1 2

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	chr11:65715400-65728400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:65720200-65728200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:65722800-65728200	Weak transcription	NHEK	skin
6	chr11:65722800-65728400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:65724600-65728200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr11:65724600-65728200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr11:65724600-65728400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr11:65724800-65728200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr11:65724800-65728200	Weak transcription	Hela-S3	cervix
12	chr11:65725000-65728400	Weak transcription	Stomach Mucosa	stomach
13	chr11:65725200-65728200	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr11:65725200-65728200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr11:65725200-65728200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr11:65725200-65728200	Weak transcription	Thymus	Thymus
17	chr11:65725200-65728200	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr11:65725200-65728400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr11:65725200-65728400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr11:65725200-65728600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr11:65725200-65728600	Weak transcription	Spleen	Spleen
22	chr11:65725400-65728200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr11:65725400-65728400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr11:65725400-65728400	Weak transcription	GM12878-XiMat	blood
25	chr11:65725400-65728600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr11:65725600-65728200	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr11:65725600-65728600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr11:65725800-65728400	Weak transcription	Primary T cells from cord blood	blood
29	chr11:65726000-65728200	Weak transcription	Primary B cells from cord blood	blood
30	chr11:65726000-65728200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr11:65726000-65728400	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr11:65726200-65728000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr11:65726200-65728200	Weak transcription	Primary B cells from peripheral blood	blood
34	chr11:65726200-65728200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr11:65726200-65728400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr11:65726200-65728400	Weak transcription	Fetal Thymus	thymus
37	chr11:65726400-65728200	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr11:65726400-65728200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr11:65726400-65728400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr11:65726400-65728400	Weak transcription	Fetal Brain Male	brain
41	chr11:65726600-65728400	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr11:65726600-65730000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr11:65726800-65728200	Enhancers	HepG2	liver
44	chr11:65727000-65728400	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr11:65727000-65728400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr11:65727200-65728400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr11:65727400-65728400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr11:65727600-65727800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr11:65727600-65728200	Enhancers	Dnd41	blood
50	chr11:65727600-65728400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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