Variant report

Variant	rs3825068
Chromosome Location	chr11:65768093-65768094
allele	A/G
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	MAFK	chr11:65767972-65768234	IMR90	lung:	n/a	chr11:65768094-65768114 chr11:65768099-65768114 chr11:65768096-65768112 chr11:65768097-65768111
2	MAFK	chr11:65768065-65768223	HepG2	liver:	n/a	chr11:65768094-65768114 chr11:65768099-65768114 chr11:65768096-65768112 chr11:65768097-65768111
3	POLR2A	chr11:65767510-65768182	SK-N-MC	brain:	n/a	n/a
4	MAFK	chr11:65767979-65768245	HepG2	liver:	n/a	chr11:65768094-65768114 chr11:65768099-65768114 chr11:65768096-65768112 chr11:65768097-65768111

No.	Distal block	Cell Line	Cell type
1	chr11:65629227..65631870-chr11:65766567..65769342,2	MCF-7	breast:
2	chr11:65636578..65639381-chr11:65766938..65769474,2	MCF-7	breast:
3	chr11:65727706..65730705-chr11:65767958..65771448,5	K562	blood:
4	chr11:65767772..65771693-chr11:65812597..65815090,3	MCF-7	breast:
5	chr11:65767679..65771369-chr11:65818165..65822112,6	MCF-7	breast:
6	chr11:65766270..65769793-chr11:65817988..65822487,7	MCF-7	breast:
7	chr11:65485229..65488136-chr11:65767888..65770369,2	MCF-7	breast:
8	chr11:65624197..65625879-chr11:65767979..65770257,2	MCF-7	breast:
9	chr11:65546195..65548031-chr11:65766372..65768235,2	K562	blood:
10	chr11:65386057..65388791-chr11:65767890..65770632,2	K562	blood:

Variant related genes	Relation type
EIF1AD	TF binding region
BANF1	TF binding region
ENSG00000175827	Chromatin interaction
ENSG00000172922	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000238752	Chromatin interaction
ENSG00000175229	Chromatin interaction
ENSG00000172977	Chromatin interaction
ENSG00000087365	Chromatin interaction
ENSG00000175467	Chromatin interaction
ENSG00000172638	Chromatin interaction
ENSG00000197136	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10896065	0.89[CHD][hapmap];1.00[JPT][hapmap]
rs11545221	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12099359	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12574568	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12575004	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12575514	0.91[ASN][1000 genomes]
rs12575735	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12576095	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12576287	0.99[ASN][1000 genomes]
rs12576319	0.89[CHD][hapmap];1.00[JPT][hapmap]
rs12577165	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12577625	0.91[ASN][1000 genomes]
rs2241304	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs2276015	0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2276017	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2277305	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28372938	0.92[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4930169	0.92[CHB][hapmap];0.89[JPT][hapmap]
rs565921	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs57968007	0.90[ASN][1000 genomes]
rs58905199	0.91[ASN][1000 genomes]
rs59156593	0.90[EUR][1000 genomes]
rs61515492	0.86[ASN][1000 genomes]
rs653955	1.00[JPT][hapmap]
rs6591205	1.00[CEU][hapmap]
rs67232706	0.89[ASN][1000 genomes]
rs67530871	0.89[ASN][1000 genomes]
rs72928826	0.90[EUR][1000 genomes]
rs72928828	0.91[ASN][1000 genomes]
rs72928830	0.91[ASN][1000 genomes]
rs72928831	0.84[ASN][1000 genomes]
rs72928860	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72928879	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72928884	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72928892	0.85[EUR][1000 genomes]
rs72928895	0.85[EUR][1000 genomes]
rs72928898	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72928900	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72930912	0.85[EUR][1000 genomes]
rs72930914	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72930933	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72930942	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72930945	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72930951	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72930952	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72930956	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72930958	0.85[EUR][1000 genomes]
rs72930964	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72930967	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72930974	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72930976	0.85[EUR][1000 genomes]
rs72930978	0.85[EUR][1000 genomes]
rs72930984	0.85[EUR][1000 genomes]
rs72930985	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7940700	0.89[CHD][hapmap];1.00[JPT][hapmap]
rs9326362	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs9943575	0.90[ASN][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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65764000-65768600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:65764800-65768200	Strong transcription	Fetal Kidney	kidney
3	chr11:65765000-65768200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:65765600-65768200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr11:65766000-65768400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
6	chr11:65766400-65769000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr11:65766800-65768200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr11:65766800-65768200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
9	chr11:65767000-65768200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr11:65767000-65768200	Genic enhancers	Duodenum Mucosa	Duodenum
11	chr11:65767000-65768200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
12	chr11:65767200-65768200	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
13	chr11:65767200-65768800	Weak transcription	Fetal Heart	heart
14	chr11:65767400-65768200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr11:65767400-65768200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr11:65767400-65768200	Genic enhancers	Liver	Liver
17	chr11:65767400-65768400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr11:65767400-65768400	Genic enhancers	Fetal Muscle Trunk	muscle
19	chr11:65767400-65768400	Genic enhancers	Fetal Thymus	thymus
20	chr11:65767400-65768600	Enhancers	Psoas Muscle	Psoas
21	chr11:65767600-65768200	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:65767600-65768200	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr11:65767600-65768200	Genic enhancers	Primary B cells from cord blood	blood
24	chr11:65767600-65768200	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr11:65767600-65768200	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr11:65767600-65768200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
27	chr11:65767600-65768200	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr11:65767600-65768200	Genic enhancers	Adipose Nuclei	Adipose
29	chr11:65767600-65768200	Genic enhancers	Brain Anterior Caudate	brain
30	chr11:65767600-65768200	Genic enhancers	Brain Substantia Nigra	brain
31	chr11:65767600-65768200	Genic enhancers	Colon Smooth Muscle	Colon
32	chr11:65767600-65768200	Genic enhancers	Fetal Intestine Small	intestine
33	chr11:65767600-65768200	Genic enhancers	Fetal Stomach	stomach
34	chr11:65767600-65768200	Genic enhancers	Gastric	stomach
35	chr11:65767600-65768200	Genic enhancers	Rectal Mucosa Donor 31	rectum
36	chr11:65767600-65768200	Transcr. at gene 5' and 3'	Rectal Smooth Muscle	rectum
37	chr11:65767600-65768200	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
38	chr11:65767600-65768200	Genic enhancers	Thymus	Thymus
39	chr11:65767600-65768200	Genic enhancers	A549	lung
40	chr11:65767600-65768200	Transcr. at gene 5' and 3'	Dnd41	blood
41	chr11:65767600-65768200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
42	chr11:65767600-65768200	Genic enhancers	HSMMtube	muscle
43	chr11:65767600-65768400	Genic enhancers	Primary T cells from cord blood	blood
44	chr11:65767600-65768600	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr11:65767600-65768800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr11:65767800-65768200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr11:65767800-65768200	Genic enhancers	Primary hematopoietic stem cells	blood
48	chr11:65767800-65768200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
49	chr11:65767800-65768200	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr11:65767800-65768200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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