Variant report

Variant	rs12280494
Chromosome Location	chr11:102183382-102183383
allele	A/C
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	TCF7L2	chr11:102183366-102183613	PANC-1	pancreas:	n/a	n/a
2	IRF1	chr11:102182989-102184676	K562	blood:	n/a	chr11:102184334-102184347 chr11:102183652-102183666 chr11:102183650-102183660 chr11:102183646-102183660 chr11:102184335-102184345 chr11:102183642-102183662 chr11:102183648-102183668 chr11:102184329-102184346 chr11:102183649-102183660 chr11:102183649-102183662 chr11:102183654-102183665 chr11:102184334-102184345 chr11:102183649-102183662 chr11:102183644-102183658 chr11:102183644-102183665 chr11:102183648-102183659 chr11:102184331-102184348 chr11:102183649-102183663 chr11:102184334-102184347 chr11:102184334-102184347 chr11:102184335-102184349 chr11:102183644-102183661 chr11:102184334-102184346 chr11:102184331-102184345 chr11:102183656-102183666 chr11:102183644-102183654 chr11:102183648-102183662 chr11:102183649-102183662 chr11:102183650-102183664 chr11:102183638-102183655
3	PRDM1	chr11:102183315-102184064	Hela-S3	cervix:	n/a	chr11:102183648-102183657 chr11:102183648-102183661 chr11:102183646-102183661 chr11:102183647-102183661
4	IRF1	chr11:102183328-102184052	K562	blood:	n/a	chr11:102183652-102183666 chr11:102183650-102183660 chr11:102183646-102183660 chr11:102183642-102183662 chr11:102183648-102183668 chr11:102183649-102183660 chr11:102183649-102183662 chr11:102183654-102183665 chr11:102183649-102183662 chr11:102183644-102183658 chr11:102183644-102183665 chr11:102183648-102183659 chr11:102183649-102183663 chr11:102183644-102183661 chr11:102183656-102183666 chr11:102183644-102183654 chr11:102183648-102183662 chr11:102183649-102183662 chr11:102183650-102183664 chr11:102183638-102183655

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:102183249..102185212-chr11:102186159..102188587,3	K562	blood:

Variant related genes	Relation type
ENSG00000271600	TF binding region
BIRC3	TF binding region
RNU6-952P	TF binding region
ENSG00000023445	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11225205	0.92[AFR][1000 genomes]
rs12272189	1.00[AFR][1000 genomes]
rs12273914	1.00[AFR][1000 genomes]
rs12277114	1.00[AFR][1000 genomes]
rs12278448	1.00[AFR][1000 genomes]
rs12278890	1.00[AFR][1000 genomes]
rs12278932	1.00[AFR][1000 genomes]
rs12278978	1.00[AFR][1000 genomes]
rs12279465	0.84[AFR][1000 genomes]
rs12280399	1.00[AFR][1000 genomes]
rs12280669	1.00[AFR][1000 genomes]
rs12284756	1.00[AFR][1000 genomes]
rs12286239	0.81[AFR][1000 genomes]
rs17097635	0.96[AFR][1000 genomes]
rs28393872	1.00[AFR][1000 genomes]
rs7121665	0.92[AFR][1000 genomes]
rs9971623	1.00[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	nsv1052348	chr11:101987090-102255753	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv556141	chr11:101988061-102207851	Weak transcription Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1050961	chr11:101993880-102253717	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv1051735	chr11:101993880-102255753	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv530646	chr11:102000840-102238992	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	esv3514195	chr11:102118479-102348362	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	esv3514197	chr11:102118479-102348362	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102173600-102183800	Weak transcription	Lung	lung
2	chr11:102176800-102187800	Weak transcription	Pancreas	Pancrea
3	chr11:102177000-102187800	Weak transcription	Spleen	Spleen
4	chr11:102177200-102187000	Weak transcription	Colonic Mucosa	Colon
5	chr11:102177600-102183400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr11:102177600-102183800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr11:102178000-102184000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr11:102178200-102183400	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr11:102178200-102183400	Weak transcription	Fetal Lung	lung
10	chr11:102178200-102183600	Weak transcription	NH-A	brain
11	chr11:102178200-102183800	Weak transcription	Fetal Intestine Large	intestine
12	chr11:102178200-102183800	Weak transcription	Left Ventricle	heart
13	chr11:102178200-102183800	Weak transcription	Psoas Muscle	Psoas
14	chr11:102178200-102188000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr11:102178400-102183400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr11:102178400-102183400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr11:102178400-102183600	Weak transcription	Placenta	Placenta
18	chr11:102178400-102183800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr11:102178400-102183800	Weak transcription	Stomach Mucosa	stomach
20	chr11:102178400-102187200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr11:102178400-102187800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr11:102178600-102183400	Weak transcription	Primary hematopoietic stem cells	blood
23	chr11:102178600-102183800	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr11:102179600-102183400	Weak transcription	Primary T cells from cord blood	blood
25	chr11:102179600-102183400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr11:102179600-102183400	Weak transcription	A549	lung
27	chr11:102181000-102183400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr11:102181400-102183400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr11:102181600-102183400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr11:102181800-102183400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr11:102181800-102183600	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr11:102181800-102187200	Enhancers	Primary B cells from peripheral blood	blood
33	chr11:102181800-102187200	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr11:102182000-102185600	Enhancers	Small Intestine	intestine
35	chr11:102182000-102187200	Enhancers	Primary B cells from cord blood	blood
36	chr11:102182200-102183400	Enhancers	Primary T cells fromperipheralblood	blood
37	chr11:102182400-102183800	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr11:102182400-102183800	Enhancers	Rectal Smooth Muscle	rectum
39	chr11:102182800-102184000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr11:102182800-102184000	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr11:102183000-102183400	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr11:102183000-102183400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
43	chr11:102183000-102183400	Enhancers	Muscle Satellite Cultured Cells	--
44	chr11:102183000-102183400	Enhancers	HepG2	liver
45	chr11:102183000-102183400	Enhancers	HMEC	breast
46	chr11:102183000-102183800	Enhancers	Hela-S3	cervix
47	chr11:102183000-102184600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr11:102183000-102185000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr11:102183200-102183400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr11:102183200-102183400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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