Variant report

Variant	rs12224999
Chromosome Location	chr11:62326888-62326889
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:62325962-62326959	HL-60	blood:	n/a	n/a
2	POLR2A	chr11:62325823-62326969	HL-60	blood:	n/a	n/a
3	POLR2A	chr11:62326640-62326921	K562	blood:	n/a	n/a
4	POLR2A	chr11:62325927-62327033	PANC-1	pancreas:	n/a	n/a
5	POLR2A	chr11:62326698-62327056	HCT-116	colon:	n/a	n/a
6	POLR2A	chr11:62326857-62328682	GM12892	blood:	n/a	n/a
7	POLR2A	chr11:62326567-62327076	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr11:62326874-62327131	HCT-116	colon:	n/a	n/a
9	POLR2A	chr11:62323618-62327355	HepG2	liver:	n/a	n/a
10	POLR2A	chr11:62326841-62327932	GM12878	blood:	n/a	n/a
11	POLR2A	chr11:62326490-62327160	PANC-1	pancreas:	n/a	n/a
12	POLR2A	chr11:62322648-62329156	PFSK-1	brain:	n/a	n/a
13	POLR2A	chr11:62325653-62328531	K562	blood:	n/a	n/a
14	POLR2A	chr11:62326838-62327082	GM12878	blood:	n/a	n/a
15	POLR2A	chr11:62326730-62328586	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr11:62322635-62329744	SK-N-MC	brain:	n/a	n/a
17	POLR2A	chr11:62326609-62327305	GM12892	blood:	n/a	n/a
18	POLR2A	chr11:62326544-62327159	HepG2	liver:	n/a	n/a
19	POLR2A	chr11:62326626-62328465	GM12892	blood:	n/a	n/a
20	POLR2A	chr11:62326016-62327129	K562	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:62326694..62328330-chr11:62431691..62433227,2	K562	blood:
2	chr11:62320231..62322469-chr11:62326560..62328980,3	MCF-7	breast:
3	chr11:62326694..62329016-chr11:62431691..62434096,3	K562	blood:
4	chr11:62326831..62332617-chr11:62337718..62342722,6	MCF-7	breast:
5	chr11:62319256..62325692-chr11:62326835..62334390,9	K562	blood:
6	chr11:62325930..62327959-chr11:62493506..62496408,2	K562	blood:
7	chr11:62326740..62328480-chr11:62359230..62362126,2	K562	blood:
8	chr11:62325310..62327831-chr11:62339551..62341590,4	K562	blood:
9	chr11:62326681..62329872-chr11:62430433..62433667,3	MCF-7	breast:
10	chr11:62323837..62326900-chr11:62339205..62341755,6	K562	blood:

No data

Variant related genes	Relation type
AHNAK	TF binding region
ENSG00000214753	Chromatin interaction
ENSG00000206597	Chromatin interaction
ENSG00000234857	Chromatin interaction
ENSG00000162194	Chromatin interaction
ENSG00000149016	Chromatin interaction
ENSG00000124942	Chromatin interaction
ENSG00000214756	Chromatin interaction
ENSG00000255432	Chromatin interaction
ENSG00000254772	Chromatin interaction
ENSG00000162222	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs2276296	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 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
10	nsv825939	chr11:62326083-62410577	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	122 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	chr11:62322400-62328000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:62322400-62328200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr11:62322400-62340000	Strong transcription	Fetal Brain Female	brain
4	chr11:62322600-62331200	Weak transcription	Ovary	ovary
5	chr11:62324200-62329000	Genic enhancers	Fetal Muscle Leg	muscle
6	chr11:62324400-62328200	Genic enhancers	HSMM	muscle
7	chr11:62324400-62328600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr11:62324400-62328800	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:62324600-62327400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr11:62324600-62327600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr11:62324600-62327600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
12	chr11:62324600-62327800	Genic enhancers	HUES6 Cell Line	embryonic stem cell
13	chr11:62324600-62327800	Strong transcription	Brain Substantia Nigra	brain
14	chr11:62324600-62328000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
15	chr11:62324600-62331600	Genic enhancers	Placenta	Placenta
16	chr11:62324800-62327800	Strong transcription	Liver	Liver
17	chr11:62324800-62328200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:62324800-62329000	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr11:62324800-62329600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr11:62324800-62330000	Genic enhancers	HMEC	breast
21	chr11:62324800-62333600	Weak transcription	Small Intestine	intestine
22	chr11:62324800-62338800	Strong transcription	Brain Germinal Matrix	brain
23	chr11:62324800-62339600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr11:62325000-62327200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr11:62325000-62327200	Weak transcription	Right Atrium	heart
26	chr11:62325000-62327400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr11:62325000-62327600	Strong transcription	Rectal Smooth Muscle	rectum
28	chr11:62325000-62327800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr11:62325000-62327800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr11:62325000-62327800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr11:62325000-62327800	Strong transcription	Brain Hippocampus Middle	brain
32	chr11:62325000-62328000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr11:62325000-62328400	Genic enhancers	Hela-S3	cervix
34	chr11:62325000-62329000	Strong transcription	Fetal Stomach	stomach
35	chr11:62325000-62331200	Weak transcription	Psoas Muscle	Psoas
36	chr11:62325000-62331800	Genic enhancers	A549	lung
37	chr11:62325000-62338600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:62325000-62338800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr11:62325200-62327000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr11:62325200-62327400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr11:62325200-62327400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr11:62325200-62328000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr11:62325200-62329800	Strong transcription	Thymus	Thymus
44	chr11:62325200-62339600	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr11:62325400-62327000	Genic enhancers	NHEK	skin
46	chr11:62325400-62327400	Strong transcription	Colon Smooth Muscle	Colon
47	chr11:62325400-62327400	Strong transcription	Osteobl	bone
48	chr11:62325400-62327800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr11:62325400-62328800	Strong transcription	Spleen	Spleen
50	chr11:62325600-62327000	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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