Variant report

Variant	rs11231140
Chromosome Location	chr11:62325829-62325830
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:62325823-62326969	HL-60	blood:	n/a	n/a
2	POLR2A	chr11:62325793-62325997	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr11:62320125-62325862	PANC-1	pancreas:	n/a	n/a
4	IKZF1	chr11:62325681-62325994	GM12878	blood:	n/a	n/a
5	ZNF384	chr11:62325484-62326690	GM12878	blood:	n/a	n/a
6	PML	chr11:62325661-62326463	GM12878	blood:	n/a	n/a
7	POLR2A	chr11:62323618-62327355	HepG2	liver:	n/a	n/a
8	PAX5	chr11:62325715-62326038	GM12878	blood:	n/a	n/a
9	YY1	chr11:62325764-62325926	K562	blood:	n/a	n/a
10	YY1	chr11:62325676-62326008	GM12878	blood:	n/a	n/a
11	YY1	chr11:62325715-62326044	GM12878	blood:	n/a	n/a
12	POLR2A	chr11:62325774-62326474	PANC-1	pancreas:	n/a	n/a
13	PAX5	chr11:62325787-62326050	GM12878	blood:	n/a	n/a
14	MTA3	chr11:62325781-62326507	GM12878	blood:	n/a	n/a
15	POLR2A	chr11:62322648-62329156	PFSK-1	brain:	n/a	n/a
16	POLR2A	chr11:62325653-62328531	K562	blood:	n/a	n/a
17	POLR2A	chr11:62325159-62326777	GM12892	blood:	n/a	n/a
18	POLR2A	chr11:62322635-62329744	SK-N-MC	brain:	n/a	n/a
19	POLR2A	chr11:62325465-62326644	K562	blood:	n/a	n/a
20	POLR2A	chr11:62323391-62326700	PFSK-1	brain:	n/a	n/a
21	POLR2A	chr11:62323448-62326435	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:62322974..62325879-chr11:62339928..62341595,4	MCF-7	breast:
2	chr11:62195164..62198839-chr11:62323869..62326200,3	MCF-7	breast:
3	chr11:62325310..62327831-chr11:62339551..62341590,4	K562	blood:
4	chr11:62323837..62326900-chr11:62339205..62341755,6	K562	blood:

No data

Variant related genes	Relation type
AHNAK	TF binding region
ENSG00000254772	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11231105	1.00[AMR][1000 genomes]
rs12279778	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12280776	1.00[AMR][1000 genomes]
rs12283164	1.00[AMR][1000 genomes]
rs12287248	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17157361	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34709729	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55774907	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57293370	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57575327	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58479396	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59314885	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60928821	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61524789	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7118805	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7126915	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73498073	1.00[AMR][1000 genomes]
rs73502133	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915636	chr11:62016992-62713565	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1441 gene(s)	inside rSNPs	diseases
2	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1433 gene(s)	inside rSNPs	diseases
3	nsv832180	chr11:62201605-62364828	Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv532284	chr11:62220043-62630253	Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong 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	1401 gene(s)	inside rSNPs	diseases
5	esv3584599	chr11:62262742-62398050	Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
6	esv1801128	chr11:62276347-62329897	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
7	esv1831183	chr11:62276347-62329897	Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
8	nsv832182	chr11:62295575-62462848	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' 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	245 gene(s)	inside rSNPs	diseases
9	nsv347	chr11:62297068-62338927	Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 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	chr11:62319000-62326600	Enhancers	Placenta Amnion	Placenta Amnion
2	chr11:62319200-62326000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:62321400-62326200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr11:62322000-62326400	Genic enhancers	Fetal Intestine Small	intestine
5	chr11:62322200-62326200	Weak transcription	Aorta	Aorta
6	chr11:62322400-62328000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:62322400-62328200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr11:62322400-62340000	Strong transcription	Fetal Brain Female	brain
9	chr11:62322600-62331200	Weak transcription	Ovary	ovary
10	chr11:62324200-62326000	Genic enhancers	Fetal Muscle Trunk	muscle
11	chr11:62324200-62326200	Enhancers	K562	blood
12	chr11:62324200-62329000	Genic enhancers	Fetal Muscle Leg	muscle
13	chr11:62324400-62326000	Genic enhancers	HepG2	liver
14	chr11:62324400-62326200	Weak transcription	Brain Angular Gyrus	brain
15	chr11:62324400-62328200	Genic enhancers	HSMM	muscle
16	chr11:62324400-62328600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr11:62324400-62328800	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:62324600-62326000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr11:62324600-62326200	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr11:62324600-62326400	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr11:62324600-62327400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:62324600-62327600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr11:62324600-62327600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
24	chr11:62324600-62327800	Genic enhancers	HUES6 Cell Line	embryonic stem cell
25	chr11:62324600-62327800	Strong transcription	Brain Substantia Nigra	brain
26	chr11:62324600-62328000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
27	chr11:62324600-62331600	Genic enhancers	Placenta	Placenta
28	chr11:62324800-62326000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr11:62324800-62326000	Enhancers	Colonic Mucosa	Colon
30	chr11:62324800-62326200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr11:62324800-62326200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr11:62324800-62326200	Weak transcription	Brain Anterior Caudate	brain
33	chr11:62324800-62326200	Weak transcription	Pancreas	Pancrea
34	chr11:62324800-62326200	Weak transcription	Right Ventricle	heart
35	chr11:62324800-62326400	Genic enhancers	Fetal Thymus	thymus
36	chr11:62324800-62327800	Strong transcription	Liver	Liver
37	chr11:62324800-62328200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:62324800-62329000	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr11:62324800-62329600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr11:62324800-62330000	Genic enhancers	HMEC	breast
41	chr11:62324800-62333600	Weak transcription	Small Intestine	intestine
42	chr11:62324800-62338800	Strong transcription	Brain Germinal Matrix	brain
43	chr11:62324800-62339600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr11:62325000-62326000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr11:62325000-62326200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr11:62325000-62326200	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr11:62325000-62326200	Strong transcription	H9 Cell Line	embryonic stem cell
48	chr11:62325000-62326200	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr11:62325000-62326200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr11:62325000-62326200	Enhancers	Primary T cells fromperipheralblood	blood

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