Variant report

Variant	rs72930967
Chromosome Location	chr11:65770953-65770954
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:65768961-65771436	PANC-1	pancreas:	n/a	n/a
2	POLR2A	chr11:65768990-65772628	GM12878	blood:	n/a	n/a
3	MXI1	chr11:65768500-65771007	SK-N-SH	brain:	n/a	chr11:65769021-65769036
4	HCFC1	chr11:65768883-65771260	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr11:65770792-65771177	K562	blood:	n/a	n/a
6	POLR2A	chr11:65770786-65772259	GM12892	blood:	n/a	n/a
7	POLR2A	chr11:65770832-65771510	K562	blood:	n/a	n/a
8	POLR2A	chr11:65769061-65771530	HepG2	liver:	n/a	n/a
9	POLR2A	chr11:65770814-65771136	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65769812..65778104-chr11:65786537..65794453,15	K562	blood:
2	chr11:65727706..65730705-chr11:65767958..65771448,5	K562	blood:
3	chr11:65768250..65771590-chr11:65817294..65821421,6	K562	blood:
4	chr11:65768250..65771110-chr11:65819143..65821313,2	K562	blood:
5	chr11:65768121..65772581-chr11:65835630..65838620,4	MCF-7	breast:
6	chr11:65728631..65731213-chr11:65769693..65771448,3	K562	blood:
7	chr11:65767772..65771693-chr11:65812597..65815090,3	MCF-7	breast:
8	chr11:65626233..65629168-chr11:65768411..65771473,3	MCF-7	breast:
9	chr11:65767679..65771369-chr11:65818165..65822112,6	MCF-7	breast:
10	chr11:65768713..65771187-chr11:65815106..65817250,2	MCF-7	breast:
11	chr11:65652640..65657924-chr11:65769844..65772901,4	MCF-7	breast:
12	chr11:65727817..65730505-chr11:65769706..65771571,3	MCF-7	breast:
13	chr11:65727757..65730728-chr11:65768462..65771270,6	MCF-7	breast:
14	chr11:65380602..65383246-chr11:65768678..65771455,2	K562	blood:
15	chr11:65769145..65771135-chr11:65826724..65830064,3	MCF-7	breast:
16	chr11:65631727..65633927-chr11:65768782..65771616,2	MCF-7	breast:
17	chr11:65428607..65430796-chr11:65768393..65771088,2	K562	blood:
18	chr11:65623413..65628719-chr11:65768360..65773657,11	MCF-7	breast:

No data

Variant related genes	Relation type
EIF1AD	TF binding region
ENSG00000255038	Chromatin interaction
ENSG00000172500	Chromatin interaction
ENSG00000238752	Chromatin interaction
ENSG00000173327	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000197136	Chromatin interaction
ENSG00000175294	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000175467	Chromatin interaction
ENSG00000087365	Chromatin interaction
ENSG00000175602	Chromatin interaction
ENSG00000173039	Chromatin interaction
ENSG00000175229	Chromatin interaction
ENSG00000175115	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11545221	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12574568	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	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]
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]
rs2276015	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	0.91[ASN][1000 genomes]
rs3825068	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57968007	0.90[ASN][1000 genomes]
rs58905199	0.91[ASN][1000 genomes]
rs59156593	0.90[EUR][1000 genomes]
rs61515492	0.86[ASN][1000 genomes]
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]
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]
rs9943575	0.90[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	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
7	esv3347668	chr11:65770742-65771367	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65768000-65771200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:65768400-65771000	Active TSS	H1 Cell Line	embryonic stem cell
3	chr11:65768400-65771000	Active TSS	H9 Cell Line	embryonic stem cell
4	chr11:65768400-65771200	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr11:65768400-65771200	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr11:65768600-65771000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr11:65768600-65771000	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr11:65768600-65771000	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr11:65768600-65771000	Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr11:65768600-65771000	Active TSS	A549	lung
11	chr11:65768600-65771200	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr11:65768600-65771200	Active TSS	NHDF-Ad	bronchial
13	chr11:65768800-65771000	Active TSS	Fetal Kidney	kidney
14	chr11:65770200-65771000	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:65770400-65771000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr11:65770400-65771000	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr11:65770400-65771000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
18	chr11:65770400-65771000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr11:65770400-65771000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr11:65770400-65771000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr11:65770400-65771000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr11:65770400-65771000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr11:65770400-65771000	Flanking Active TSS	Brain Cingulate Gyrus	brain
24	chr11:65770400-65771000	Flanking Active TSS	Brain Hippocampus Middle	brain
25	chr11:65770400-65771000	Flanking Active TSS	Colonic Mucosa	Colon
26	chr11:65770400-65771000	Flanking Active TSS	Duodenum Mucosa	Duodenum
27	chr11:65770400-65771000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr11:65770400-65771000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
29	chr11:65770400-65771000	Flanking Active TSS	Fetal Intestine Large	intestine
30	chr11:65770400-65771000	Flanking Active TSS	Fetal Muscle Leg	muscle
31	chr11:65770400-65771000	Flanking Active TSS	Fetal Thymus	thymus
32	chr11:65770400-65771000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
33	chr11:65770400-65771000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
34	chr11:65770400-65771000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr11:65770400-65771000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr11:65770400-65771000	Flanking Active TSS	Stomach Mucosa	stomach
37	chr11:65770400-65771000	Flanking Active TSS	Hela-S3	cervix
38	chr11:65770400-65771000	Flanking Active TSS	HUVEC	blood vessel
39	chr11:65770400-65771000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr11:65770400-65771000	Flanking Active TSS	NH-A	brain
41	chr11:65770400-65771000	Flanking Active TSS	NHEK	skin
42	chr11:65770400-65771000	Flanking Active TSS	Osteobl	bone
43	chr11:65770400-65771200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr11:65770400-65771200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr11:65770400-65771200	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr11:65770400-65771200	Flanking Active TSS	Liver	Liver
47	chr11:65770400-65771200	Flanking Active TSS	Brain Anterior Caudate	brain
48	chr11:65770400-65771200	Flanking Active TSS	Brain Substantia Nigra	brain
49	chr11:65770600-65771000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:65770600-65771000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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