Variant report

Variant	rs12280375
Chromosome Location	chr11:35229856-35229857
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:24 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:35229467-35230057	HCT-116	colon:	n/a	n/a
2	POLR2A	chr11:35229080-35230918	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr11:35228282-35231443	GM12878	blood:	n/a	n/a
4	POLR2A	chr11:35228224-35231799	PANC-1	pancreas:	n/a	n/a
5	POLR2A	chr11:35228172-35230898	GM12891	blood:	n/a	n/a
6	POLR2A	chr11:35229576-35230039	GM12878	blood:	n/a	n/a
7	POLR2A	chr11:35227002-35231718	GM18505	blood:	n/a	n/a
8	POLR2A	chr11:35220350-35237256	U87	brain:	n/a	n/a
9	POLR2A	chr11:35229275-35231031	GM12892	blood:	n/a	n/a
10	NFATC1	chr11:35229154-35230048	GM12878	blood:	n/a	n/a
11	POLR2A	chr11:35228321-35231788	IMR90	lung:	n/a	n/a
12	POLR2A	chr11:35227925-35231830	GM12891	blood:	n/a	n/a
13	POLR2A	chr11:35229172-35229943	GM12891	blood:	n/a	n/a
14	POLR2A	chr11:35220356-35243977	U87	brain:	n/a	n/a
15	POLR2A	chr11:35229625-35229898	ProgFib	skin:	n/a	n/a
16	POLR2A	chr11:35228208-35231843	GM12892	blood:	n/a	n/a
17	POLR2A	chr11:35221514-35231912	PANC-1	pancreas:	n/a	n/a
18	POLR2A	chr11:35225807-35231873	GM12892	blood:	n/a	n/a
19	POLR2A	chr11:35228059-35231671	GM12891	blood:	n/a	n/a
20	POLR2A	chr11:35225287-35231831	GM12892	blood:	n/a	n/a
21	POLR2A	chr11:35225125-35231811	GM12891	blood:	n/a	n/a
22	NFATC1	chr11:35229237-35229886	GM12878	blood:	n/a	n/a
23	POLR2A	chr11:35228210-35231834	GM12892	blood:	n/a	n/a
24	POLR2A	chr11:35228191-35231929	U87	brain:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:35227871..35230257-chr11:35238452..35241345,2	MCF-7	breast:
2	chr11:35160475..35162175-chr11:35227278..35229969,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000251194	TF binding region
ENSG00000026508	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10488811	0.92[ASW][hapmap];0.92[LWK][hapmap];1.00[MKK][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16927100	0.92[ASW][hapmap];0.92[LWK][hapmap];1.00[MKK][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3847610	1.00[AMR][1000 genomes]
rs3847611	1.00[AMR][1000 genomes]
rs57427719	1.00[AMR][1000 genomes]
rs61045842	1.00[AMR][1000 genomes]
rs61142335	1.00[AMR][1000 genomes]
rs6484779	1.00[AMR][1000 genomes]
rs6484780	1.00[AMR][1000 genomes]
rs6484782	1.00[AMR][1000 genomes]
rs6484783	1.00[AMR][1000 genomes]
rs7102654	1.00[AMR][1000 genomes]
rs7103913	1.00[AMR][1000 genomes]
rs7114260	1.00[AMR][1000 genomes]
rs7121622	1.00[AMR][1000 genomes]
rs7130549	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7131062	1.00[AMR][1000 genomes]
rs724474	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73436972	1.00[AMR][1000 genomes]
rs73436976	1.00[AMR][1000 genomes]
rs73439121	1.00[AMR][1000 genomes]
rs73439149	1.00[AMR][1000 genomes]
rs7926777	1.00[AMR][1000 genomes]
rs7926910	1.00[AMR][1000 genomes]
rs7927023	1.00[AMR][1000 genomes]
rs7927263	1.00[AMR][1000 genomes]
rs7934506	1.00[AMR][1000 genomes]
rs7936164	1.00[AMR][1000 genomes]
rs7939095	1.00[AMR][1000 genomes]
rs7939877	1.00[AMR][1000 genomes]
rs7939959	1.00[AMR][1000 genomes]
rs7940317	1.00[AMR][1000 genomes]
rs7945276	1.00[AMR][1000 genomes]
rs7949171	1.00[AMR][1000 genomes]
rs7952042	1.00[AMR][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	nsv1045837	chr11:34893992-35395190	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	esv2759818	chr11:35029933-35238578	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	esv2757437	chr11:35067482-35238578	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv2752912	chr11:35074167-35238578	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv541003	chr11:35122694-35261451	Genic enhancers Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv541004	chr11:35122694-35297414	Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:35198000-35232800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
2	chr11:35200600-35244800	Weak transcription	Fetal Brain Male	brain
3	chr11:35200800-35230000	Strong transcription	Primary hematopoietic stem cells	blood
4	chr11:35200800-35230400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:35202600-35234000	Strong transcription	HMEC	breast
6	chr11:35202600-35234000	Strong transcription	HSMM	muscle
7	chr11:35202600-35234800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr11:35203000-35231400	Strong transcription	Muscle Satellite Cultured Cells	--
9	chr11:35203000-35231400	Strong transcription	NH-A	brain
10	chr11:35204600-35235200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:35205200-35230600	Strong transcription	Primary B cells from cord blood	blood
12	chr11:35205800-35231400	Weak transcription	Brain Hippocampus Middle	brain
13	chr11:35209000-35234800	Strong transcription	NHEK	skin
14	chr11:35210000-35232600	Strong transcription	Primary B cells from peripheral blood	blood
15	chr11:35212400-35236400	Weak transcription	HSMMtube	muscle
16	chr11:35213200-35234000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr11:35214200-35230600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr11:35214200-35238400	Weak transcription	Gastric	stomach
19	chr11:35214200-35240800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr11:35214400-35230000	Weak transcription	Liver	Liver
21	chr11:35214400-35231400	Strong transcription	Osteobl	bone
22	chr11:35214600-35235200	Weak transcription	HUVEC	blood vessel
23	chr11:35214600-35250600	Weak transcription	Fetal Intestine Large	intestine
24	chr11:35214800-35236000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr11:35215600-35234600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr11:35215600-35241200	Weak transcription	Small Intestine	intestine
27	chr11:35216200-35234000	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr11:35216800-35231400	Strong transcription	NHDF-Ad	bronchial
29	chr11:35219200-35231000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr11:35219200-35231400	Strong transcription	NHLF	lung
31	chr11:35219600-35231400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr11:35222200-35230200	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr11:35222600-35240600	Weak transcription	Spleen	Spleen
34	chr11:35222800-35236400	Weak transcription	Psoas Muscle	Psoas
35	chr11:35223000-35236600	Weak transcription	Placenta	Placenta
36	chr11:35223400-35231000	Weak transcription	Fetal Lung	lung
37	chr11:35223400-35234600	Weak transcription	Fetal Stomach	stomach
38	chr11:35223400-35235000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr11:35223400-35238400	Weak transcription	Esophagus	oesophagus
40	chr11:35224000-35241600	Weak transcription	Left Ventricle	heart
41	chr11:35224600-35230600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr11:35224600-35231000	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr11:35224600-35232800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr11:35225000-35231200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr11:35225000-35231800	Strong transcription	Fetal Thymus	thymus
46	chr11:35225400-35231000	Strong transcription	Fetal Muscle Leg	muscle
47	chr11:35225400-35232400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr11:35225400-35232600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr11:35225400-35234400	Strong transcription	Duodenum Mucosa	Duodenum
50	chr11:35225600-35233000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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